PRUNE BELLY SINDROM

DOUGLAS W STORM, MD
Departemen Urologi
San Diego Naval Medical Center
34.800 Bob Wilson drive
San Diego, CA 92134
douglas.storm@med.navy.mil
Ashay PATEL, DO
Divisi Pediatric Urology
Rumah Sakit Anak Nationwide
Columbus, OH 43205
ashay.patel@nationwidechildrens.org

PENGANTAR
Sindrom Belly Prune terdiri dari konstelasi cacat bawaan, dengan tiga kelainan utama
adalah kelemahan dari dinding perut, testis yang tidak turun bilateral dan kelainan
pada saluran genitourinari. Sementara yang tidak biasa "prune-seperti" penampilan
perut (Gambar 1) adalah ciri khas yang biasanya mengidentifikasi pasien-pasien ini,
fungsi ginjal yang mendasarinya adalah faktor yang paling penting dalam menentukan
kelangsungan hidup mereka secara keseluruhan. Kelainan kemih yang telah dikaitkan
dengan Sindrom Prune Belly termasuk hidronefrosis, ureter melebar berliku-liku,
derajat variabel displasia ginjal dan kandung kemih yang membesar. Pernapasan,
muskuloskeletal, gastrointestinal, sistem ortopedi dan jantung juga mungkin
terlibat.Tampaknya ada spektrum yang luas dari keparahan dalam sindrom ini karena
beberapa anak-anak dengan gangguan paru dan ginjal yang parah tidak akan bertahan
periode neonatal, sementara yang lain dengan keterlibatan minimal hanya akan
terpengaruh sedikit.
The dinding abdomen cacat pertama kali dijelaskan oleh FROLICH pada tahun 1839
dan kemudian itu grafis direkam oleh Platt.1 Parker adalah orang pertama yang
melaporkan bayi laki-laki dengan ketiga komponen klasik perut prune syndrome.2

Osler pada tahun 1901 adalah yang pertama untuk memanfaatkan nama "perut
memangkas" dan diakui kandung kemih distensi terkait dengan syndrome.1,3
Sementara ini, judul "Sindrom Prune Belly" telah berlangsung selama bertahun-tahun,
orang lain telah menemukan sebutan ini tidak menyenangkan dan dimanfaatkan nama
seperti "sindrom triad," "mesenchymal dysplasia" dan "sindrom Elang-Barrett." 4-6
Sindrom Prune Belly mempengaruhi antara 1 di 30.000 sampai 1 di 50.000 kelahiran,
dengan 95% terjadi pada laki-laki infants.7-9 A Anak baru-baru ini 'Rawat Inap ulasan
database mengungkapkan 133 bayi laki-laki yang baru lahir dengan PBS dari 1 420
991 kelahiran, dengan perkiraan kejadian 3,8 kasus / 100 000 births.10 Terlibat betina
hidup hadir dengan otot perut absen serta kelainan genital dan systems.11 kemih juga
Tampaknya ada insiden yang lebih tinggi pada kehamilan kembar serta anak-anak
yang lahir mothers.8 muda

GENETIKA
Tidak ada pola genetik yang jelas untuk sindrom prune belly ada, meskipun ada pola
warisan keluarga hipotesis dalam beberapa kasus yang terisolasi.Sindrom Prune Belly
dilaporkan terjadi pada anak kembar, sepupu dan kedua saudara laki-laki dan
perempuan, menunjukkan inheritance.12-23 familial Ramasamy et al Ulasan
mayoritas kasus-kasus familial di 2.004,12 Mereka menduga bahwa mungkin ada seks
dipengaruhi, resesif autosomal pola pewarisan yang dapat menjelaskan laporan
tersebut terisolasi. Seperti penyakit diwariskan dalam pola autosomal resesif
tampaknya terjadi pada frekuensi yang lebih tinggi di pernikahan kerabat, bukti
tambahan untuk pola warisan ini disarankan oleh laporan oleh Frydman dan
Adeyokunnu.13,24 Frydman melaporkan kasus Sindrom Prune Belly dalam laki-laki
yang lahir beberapa dalam hubungan kerabat; sementara Adeyokunnu melaporkan
insiden yang lebih tinggi dari sindrom ini di Nigeria, daerah dengan tingkat yang lebih
besar dikenal dari consanguinity.13,24 Riccardi dan Grum juga telah menyarankan
dua langkah autosomal dominan mutasi dengan ekspresi seks terbatas yang dapat
menjelaskan dominasi laki-laki sindrom ini, serta jumlah jarang dari terkena
members.18 keluarga Sementara laporan ini membuat argumen untuk pola warisan
keluarga, sebagian besar kasus tampaknya terjadi dalam alam sporadis. Ives et al
dalam review mereka anak-anak yang terkena dampak dengan sindrom prune belly
mencatat sebelas pasang kembar sumbang untuk sindrom yang berbicara terhadap
akuntansi dasar sepenuhnya genetik untuk occurrence.5 sindrom ini
Selain itu, kelainan kromosom tertentu juga langka. Sindrom Prune Belly telah
dikaitkan dengan trisomi 13, trisomi 18, trisomi 21 dan sindrom Turner, tapi hubungan
tertentu belum Translokasi demonstrated.25-27 dan inversi pericentric kromosom 9
juga telah dilaporkan pada janin yang menunjukkan sindrom ini. Namun, temuan

kromosom tidak spesifik, karena tidak semua anak-anak dengan sindrom ini memiliki
kelainan kromosom ini, juga tidak semua anak dengan inversi pericentric kromosom 9
pameran syndrome.28 prune belly
Asosiasi antara katup uretra posterior, sindrom Perlman, sindrom BeckwithWiedemann, asosiasi VACTERL dan sindrom hypoperistalsis megacystis-microcolon
usus telah reported.29-32 asosiasi ini menyarankan patogenesis umum antara sindrom
prune belly dan kondisi lainnya.

EMBRIOLOGI
Ada tiga teori utama yang ada untuk menjelaskan Sindrom Prune Belly: obstruksi
janin, penangkapan mesoderm dan teori yolk sac.
Janin Outlet Obstruction Pada tahun 1903, Stumme menyarankan bahwa sindrom
prune belly terjadi sekunder outlet kandung kemih obstruction.33 Dia menduga bahwa
obstruksi infra-vesikalis ini mengakibatkan distensi kandung kemih, uretra pelebaran
dan hidronefrosis karakteristik sindrom ini.Pelebaran kandung kemih juga dirasakan
mengakibatkan atrofi dinding perut melalui infark vena dan juga menghambat
perbedaan pendapat normal dari testicles.34 Teori ini kemudian dibuktikan oleh
Gonzalez dkk yang diciptakan temuan fenotip ditemukan di Sindrom Prune Belly oleh
menghalangi uretra domba janin di 43-45 hari gestation.35 Jika obstruksi infravesikalis adalah untuk menghasilkan temuan yang terkait dengan sindrom prune perut,
itu akan muncul bahwa waktu dan tingkat keparahan obstruksi ini harus kritis sejak
temuan terkait ini sindrom yang berbeda dari uropathies obstruktif
lainnya.Berdasarkan timeline perkembangan janin, akan terlihat bahwa obstruksi perlu
terjadi antara minggu 13 dan 15 kehamilan. Obstruksi pada saat ini dapat menjelaskan
kelainan yang ditemukan pada sindrom prune belly sejak saat ini urachus sudah mulai
menutup, produksi urin janin yang signifikan telah terjadi dan pengembangan prostat
juga hanya beginning.9
Pada manusia, obstruksi uretra sebenarnya hanya diidentifikasi di sekitar 10-20% dari
cases.36 Beberapa telah mendalilkan bahwa obstruksi mungkin sementara, sementara
yang lain telah berspekulasi bahwa mereka dengan lesi obstruktif hanya dapat
mewakili bentuk yang paling parah dari sindrom prune belly . Sebagian besar bayi ini
yang benar-benar menunjukkan obstruksi uretra berasal dari studi otopsi, oleh karena
itu beberapa merasa bahwa model obstruksi uretra mungkin benar-benar
memperhitungkan "varian mematikan" dan mungkin tidak memperhitungkan anak
yang survive.37 Untuk mengatasi argumen ini, beberapa telah menduga bahwa uretra
prostat hipoplasia benar-benar bisa berfungsi sebagai katup yang menghambat
tutup. Dalam seri otopsi, Moerman et al menemukan bahwa prostat anak perut prune

itu tanpa serat otot polos dan kelenjar yang tuboalveolar berkurang di number.38
Mereka mendalilkan bahwa prostat hipoplasia mengakibatkan kelemahan dinding
prostat dan sacculation dari prostat yang uretra. Mereka mencatat menggembung ini
paling ditandai di sepanjang aspek dorsal dan ekor dan merasa bahwa ini
mengakibatkan uretra membran memasukkan lebih bagian punggung, dengan cara
miring, ke dalam uretra prostat. Ia merasa bahwa penyisipan normal ini ke dalam
uretra prostat hipoplasia bisa menghasilkan mekanisme katup flap, menyebabkan
obstruksi fungsional. Dengan cara ini, hipoplasia prostat bisa menjadi penyebab dan
belum tentu efek sindrom prune perut. Lainnya telah memperkirakan bahwa menunda
kanalisasi uretra distal bisa menjadi penyebab obstruction.39 keterlambatan ini dapat
menjelaskan ketidakmampuan untuk mengidentifikasi obstruksi benar pada saat
kelahiran, serta pengembangan megalourethra yang mungkin terjadi pada sindrom
ini .
Teori obstruktif berpendapat bahwa temuan dinding perut yang sekunder untuk
menekan efek dari kandung kemih pada otot perut berkembang.Mendukung teori ini,
otot-otot langsung di atas kandung kemih tampaknya menjadi orang-orang yang
terkena dampak paling parah. Selain itu, Moerman et al juga mengidentifikasi
perubahan otot distrofik pada analisis histologis di study.38 otopsi mereka Mereka
merasa bahwa temuan histologis bisa kompatibel dengan deskripsi Pinto infark vena
otot, yang ia rasakan, adalah sekunder untuk tekanan dari urin buncit kandung
kemih. Namun, penelitian histologis dan mikroskop elektron lain dari dinding perut
yang lebih konsisten dengan penangkapan perkembangan, bukan atrofi itu, dan gagal
untuk mendukung obstruksi sebagai penyebab dinding perut abnormalities.40,41
Sementara obstruksi infra-vesikalis janin tampaknya masuk akal, gagal untuk
memperhitungkan semua temuan terkait dengan sindrom prune perut. Tentu saja ada
inkonsistensi dengan teori ini dan tidak semua faktor umum pada anak-anak perut
prune dapat dijelaskan oleh model ini.
Teori mesoderm Penangkapan Teori ini menunjukkan bahwa etiologi sindrom prune
belly adalah sekunder untuk penghinaan berbahaya ke mesoderm embrionik. Selama
perkembangan janin normal, mesoderm mengalir keluar antara ektoderm dan
endoderm. Mesoderm kemudian membagi menjadi segmen medial dan lateral, yang
membentuk somit dan lempeng lateral, masing-masing. Piring lateral yang kemudian
lebih lanjut terbagi menjadi lapisan viseral dan somatik. Lapisan somatik antara somit
dan lempeng lateral yang membentuk mesoderm nefrogenik, yang merupakan
pendahulu dari mesonefros, saluran wolffii dan metanephros. Lapisan somatik dari
pelat mesoderm lateral sumber dinding abdomen otot, sedangkan lapisan visceral dari
pelat mesoderm lateral yang menimbulkan otot polos dari tracts.9 kemih dan
gastrointestinal Banyak yang percaya bahwa kelainan mesoderm dapat menjelaskan
Sindrom ini dinding perut dan temuan genitourinari.

Stephens dan Gupta mengusulkan bahwa kelainan pada saluran kemih dapat
dijelaskan oleh perkembangan abnormal dari Mesonefros antara 6 dan 10
minggu. Biasanya, saluran Wolffii, yang merupakan turunan dari mesoderm, berakhir
caudally ke dalam sinus urogenital dan menjadi dimasukkan ke dalam uretra membran
masa depan dan demarcates verumontanum tersebut. Saluran wolffii dan tunas ureter
selanjutnya dimasukkan ke dalam trigonum, dengan tunas ureter tumbuh ke dalam
protoplasma nefrogenik. Abnormal penggabungan saluran wolffii terminal bisa
menghasilkan hipoplasia prostat, pelebaran uretra prostat dan penghalang bahkan
katup-seperti. Selain itu, keterlibatan tunas ureter bisa menyebabkan perkembangan
ureter normal dan pengembangan ginjal bahkan displastik jika interaksi dengan
protoplasma nefrogenik adalah abnormal.42 kegagalan simultan dari lapisan somatik
dari pelat mesoderm lateral yang kemudian dapat menjelaskan cacat dinding perut.
Ives mengusulkan bahwa cacat mesoderm bisa terjadi pada awal minggu ke-3
kehamilan. Dia merasa bahwa pada pembagian disk embrio, yang biasanya terjadi
pada minggu ke-3, dapat menjelaskan terjadinya sumbang dilihat dengan Lainnya
twins.5 monozigot mendalilkan bahwa kelainan mesoderm juga dapat menjelaskan
kesulitan dalam penurunan testis. Mereka merasa bahwa kelainan pada testis
gubernaculums, juga turunan dari mesoderm, dapat mengakibatkan unresponsiveness
dari jaringan ini pengaruh hormonal dan dengan demikian tidak memungkinkan testis
untuk turun normally.43-46
Namun, bahkan teori penangkapan mesoderm gagal untuk menjelaskan semua faktor
yang terkait dengan sindrom prune perut. Bukti lebih lanjut dan penjelasan yang
diperlukan untuk sepenuhnya mendukung teori ini sebagai penyebab sindrom ini.
The Yolk Sac Teori Stephens telah mengusulkan teori tambahan untuk menjelaskan
fitur yang berhubungan dengan sindrom prune perut. Dia hipotesis bahwa pada anakanak dengan Sindrom Prune Belly, kandung kemih dan uretra posterior yang berasal
dari porsi yang lebih besar dari allantois dari biasanya diterima dan bahwa jumlah
abnormal kantung kuning telur dipertahankan juga. Ini jumlah abnormal yolk sac
dapat mempengaruhi perkembangan dinding perut dan mengakibatkan "prune-seperti"
penampilan. Selain itu, divertikulum allantoic, dapat dimasukkan ke dalam saluran
kemih dan account untuk urachus membesar, kandung kemih dan uretra prostat jelas
di syndrome.42 prune belly Namun, teori ini gagal untuk menjelaskan semua kelainan
terlihat di ginjal dan saluran kelamin.
KLINIS
Kelainan Genitourinary

Ginjal Ada variasi yang luas dalam presentasi ginjal, mulai dari normal ke parah
displastik, kidneys.47 nonfungsional Ini adalah tingkat displasia ginjal dan
keseluruhan fungsi ginjal anak yang biasanya menentukan prognosis mereka. Isu-isu
ginjal dan akun hipoplasia yang dihasilkan paru untuk kesempatan 20% dari lahir mati
atau kematian pada periode neonatal, dengan tambahan 30% maju ke gagal ginjal
dalam dua tahun pertama life.33,48 Secara histologis, ginjal paling displastik adalah
mirip dengan yang dijelaskan oleh Potter menunjukkan beberapa nefron dan
features.9 terorganisir lainnya
Hidronefrosis juga merupakan temuan umum (Gambar 2A, B) dan saat ini biasanya
terdeteksi pada ultrasounds.49 prenatal Satu harus ingat bahwa tingkat hidronefrosis
tidak selalu berkorelasi dengan fungsi ginjal, tingkat ureter pelebaran atau dinding
perut laxity.50 Selain itu, tidak biasa untuk mengidentifikasi keterlibatan ginjal
asimetris, dengan satu ginjal menunjukkan hidronefrosis berat dan / atau displasia
dibandingkan dengan kontralateral side.51 ureteropelvic junction obstruksi yang
normal juga telah dilaporkan, namun hidronefrosis non-obstruktif adalah aturan
umum. 52 Pada pasien dengan diawetkan fungsi ginjal, tampak bahwa infeksi saluran
kemih dapat menimbulkan risiko terbesar untuk merusak kidneys.53 mereka
Ureter Ureter yang memanjang, melebar dan berliku-liku (Gambar 3), dengan rendah
sepertiga yang lebih mendalam terpengaruh dibandingkan dengan portion.33
proksimal vesicoureteral refluks terjadi pada sampai dengan 75% dari pasien dan
lubang ureter mungkin lebar dan patulous 0,9 gambar fluoroscopic dari ureter dapat
menunjukkan gerak peristaltik tidak efektif, namun biasanya mereka terhalang dan
tiriskan adequately.33 Meskipun jarang, ada laporan dari obstruksi pada kedua
persimpangan ureteropelvic dan ureterovesical junction.38,43,54
Pemeriksaan histologis dari ureter mengungkapkan perubahan dalam arsitektur
dinding ureter. Hipertrofi dan hiperplasia otot polos, yang dapat dilihat pada pasien
dengan katup uretra posterior dan vesicoureteral reflux, biasanya tidak ada dalam
sindrom prune perut. Sebaliknya, otot polos jarang atau bahkan tidak ada dan dapat
digantikan dengan tissue.4,38 berserat selular Ada juga tampaknya peningkatan rasio
kolagen untuk kelancaran otot di ureter lapisan otot, terutama jika vesiko-ureter
refluks hadir 0,55 Meskipun hadir di seluruh ureter, bagian proksimal ureter
tampaknya memiliki sel-sel otot lebih halus dibandingkan dengan portion.4,56 distal
Ada juga tampaknya penurunan jumlah pleksus saraf dan serat Schwann dalam ureter
demikian juga. Fitur-fitur histologis dapat mengganggu propagasi impuls dari sel ke
sel dan mengakibatkan miskin ureter peristaltik. Fitur-fitur ini juga harus
dipertimbangkan jika operasi ureter dilakukan pada pasien ini.
Kandung kemih Kandung kemih pada pasien dengan sindrom prune belly biasanya
membesar dan menebal (Gambar 4), tapi trabeculations biasanya absent.9 ini kontras

ke kandung dari pasien dengan katup uretra posterior, yang biasanya nyata
trabeculated. Selama cystogram sebuah, kandung kemih karena itu biasanya halus
berdinding dan mungkin menunjukkan sebuah sisa urachal atau divertikulum. Sisasisa Urachal mungkin menipiskan kandung kemih ke dinding perut. Kista Urachal
atau urachus sepenuhnya paten yang hadir dalam 25-50% dari cases.36,42,43
trigonum ini biasanya diperbesar dengan lateral ditempatkan, lubang ureter patulous,
yang menyumbang asosiasi umum dengan reflux.9 vesicoureteral trigonum juga
biasanya corong menjadi buruk didefinisikan, terbuka lebar kandung kemih neck.39
Secara histologis, kandung kemih muncul untuk menunjukkan dua pola pada pasien
dengan sindrom prune perut. Pada pasien dengan pasti obstruksi saluran kemih bawah
kandung kemih menebal menunjukkan kuantitas otot meningkat dan kolagen normal
rasio otot. Kandung kemih tanpa halangan menunjukkan dinding kandung kemih lebih
tipis dengan peningkatan kolagen untuk otot ratio.57 The kandung kemih persarafan
meskipun tampaknya menjadi normal dengan distribusi normal ganglion cells.4
Evaluasi urodinamik dari kandung kemih prune perut biasanya mengungkapkan
kapasitas kandung kemih besar dengan istirahat normal pressures.4 pasien ini
biasanya juga menunjukkan sensasi pertama tertunda kenyang dengan miskin
ketidakstabilan kandung kemih contractility.58,59 kandung kemih dengan kontraksi
detrusor tanpa hambatan mungkin terjadi, tetapi biasanya rare.58-60 Kinahan dkk
melaporkan dalam seri mereka bahwa 44% dari pasien mereka mampu membatalkan
secara spontan, dengan tekanan berkemih normal dan volume residu
rendah; sementara yang lain diperlukan catheterization.59 intermiten bersih Tentu
kontraktilitas ini miskin serta refluks vesicoureteral besar terlihat pada pasien-pasien
ini akan menjelaskan tingkat tinggi residu urine yang dapat dilihat pada individuindividu.
Prostat dan posterior Uretra Uretra prostat biasanya memanjang dan mengecil di
uretra membran (Gambar 5). Selain leher kandung kemih biasanya paten secara luas
dan melebar. Karakteristik ini memberikan uretra prostat khas "bentuk segitiga" di
radiographs.33 Dinding prostat anterior biasanya lebih pendek dari dinding
posterior. Verumontanum biasanya kecil atau tidak ada dan divertikulum utricular
dapat present.33 A obstruksi benar pada tingkat prostat atau membran uretra yang
langka, hanya terjadi pada 10-20% dari cases.33 Seperti dibahas sebelumnya, pasien
yang menunjukkan penghalang uretra benar umumnya dianggap bentuk yang paling
parah dari sindrom prune belly. Tanpa obstruksi uretra benar, Stephens telah
mendalilkan bahwa mungkin ada pengkusutan dari uretra prostat sekunder untuk
perbedaan panjang antara anterior dan posterior prostat. Kinking ini maka mungkin
account untuk obstruksi fungsional dengan menciptakan katup penutup dari urethra.42
yang

Analisis histologis dari prostat pada pasien perut prune telah mengungkapkan
hipoplasia berat, dengan otot polos minimal dan glands.38 tubuloalveolar Sebagai
perbandingan, prostat dari pasien dengan katup uretra posterior mengungkapkan
jumlah normal otot polos dan parenkim kelenjar yang dikompresi tapi dinyatakan
normal . Hal ini menyebabkan Moerman berspekulasi bahwa melebar, prostat
hipoplasia adalah penyebabnya, bukan efek, dari syndrome.38 prune belly
Anterior Uretra Biasanya uretra anterior pada pasien ini adalah normal, meskipun
ada laporan dari kedua atresia uretra dan microurethras, serta pengembangan
megalourethra pada pasien ini. Pasien dengan baik uretra atresia atau microurethra
sebuah biasanya hanya bertahan sekunder untuk urachus paten. Beberapa telah
menyarankan bahwa urethras sempit biasanya dikembangkan, tetapi kurang
dimanfaatkan dan karenanya dapat dikelola dengan dilation.61 progresif
Kedua jenis megalourethra, skafoid dan fusiform, dapat berhubungan dengan sindrom
ini. Dalam berbagai fusiform, corpora cavernosa kekurangan serta spongiosum
tersebut. Formulir ini lebih parah dan mungkin terkait dengan displasia ginjal dan
mematikan abnormalities.62 skafoid megalourethra lainnya, yang merupakan bentuk
yang lebih umum dan kurang parah, ditandai dengan hanya kekurangan spongiosum,
dengan pelestarian corpora cavernosa, glans dan fossa navicularis.33 Hal ini diyakini
bahwa cacat mesoderm bisa menjelaskan ini uretra maldevelopments.63
Aksesori Pria Organ Seks Kelainan vas deferens, epididimis dan vesikula seminalis
telah dicatat. Mengingat derivasi mesoderm umum organ-organ ini, temuan ini tidak
mengejutkan. Epididimis umumnya terpisah dari testis dan vas yang telah ditemukan
untuk mengeringkan ectopically.64 Selain itu, vesikula seminalis dapat melebar atau
bahkan atresia atau absent.42 Semua temuan ini, bersama dengan histologi testis yang
abnormal yang signifikan dalam hal kesuburan masa depan pasien '.
Testis kriptorkismus bilateral dianggap sebagai ciri dari sindrom ini, dengan
mayoritas testis ini menjadi intra-abdominal atas tingkat iliac yang vessels.33 The
gubernaculums awalnya diusulkan untuk menjadi normal, meskipun memanjang dan
melekat pada cincin inguinal internal, Namun Elder et al telah menyarankan bahwa
gubernaculum yang sebenarnya bisa normal dan mungkin bahkan absent.4,45
Penjelasan ini juga dapat menjelaskan maldescent dari testis ini, selain teori obstruksi
dari kandung kemih buncit.
Secara histologi testis ini juga menunjukkan berbagai kelainan. Orvis et al telah
melaporkan penurunan jumlah spermatogonium, serta sel Leydig hyperplasia.65
Selain itu, Massad et al telah menunjukkan sel germinal atipikal dengan nuclei.66
yang abnormal sel-sel ini kuman normal menyerupai neoplasma testis intratubular dan
dengan demikian anak-anak dengan prune sindrom perut harus diawasi secara ketat

untuk perkembangan tumor testis.Memang, ada telah didokumentasikan kasus tumor

testis berkembang pada pasien ini, tapi secara keseluruhan risiko tidak muncul untuk
menjadi lebih besar dari pasien lain dengan testes.67-69 tidak turun
Fungsi seksual dan kesuburan fungsi seksual pada pasien dengan sindrom prune
perut tampaknya menjadi utuh. Asalkan cavernosum corpora normal, pasien-pasien
ini mungkin mengalami ereksi normal dan orgasme dan dapat mempertahankan
relationships.70 seksual yang memuaskan Namun, mengingat leher kandung kemih
terbuka, pasien ini mengalami ejakulasi retrograde dan cenderung azoospermic.70,71
Tidak ada laporan ayah dengan sindrom prune perut mereproduksi secara
alami. Sampai saat ini hanya melaporkan kasus ayah pada pasien dengan Sindrom
Prune Belly terlibat intracytoplasmic injection.72 sperma Jelas, infertilitas terkait
dengan sindrom ini adalah multifaktorial karena ada kelainan histologis testis dan
prostat, serta kelainan anatomi prostat , leher kandung kemih, vas deferens, vesikula
seminalis dan testis.
Extragenitourinary Kelainan
Perut Dinding Karakteristik keriput, "prune-seperti" kulit bayi baru lahir adalah salah
satu temuan karakteristik pada anak-anak dengan Sindrom Prune Belly (Gambar
1). Penampilan ini adalah sekunder untuk hipoplasia otot rangka yang terjadi di semua
tiga lapisan otot perut Otot-otot rektus wall.40 atas dan otot miring luar biasanya
berkembang lebih baik dan tingkat hipoplasia mungkin variabel dan asimetris 9, 33.
Urutan Keterlibatan dari sebagian ke setidaknya yang terlibat adalah: transversus
abdominis, rektus abdominis bawah umbilikus, miring internal miring eksternal dan
rektus abdominis atas umbilicus.6 Hasil atas otot rektus abdominis lebih berkembang
di perpindahan cephalic dari umbilikus. Memang, massa otot berkurang mungkin
memungkinkan seseorang untuk melihat peristaltik usus melalui kulit.
Gangguan dinding perut dapat menghambat kemampuan bayi yang baru lahir untuk
duduk dari posisi terlentang dan dapat menunda kemampuan anak untuk walk.33 Jika
tidak, ada tampaknya tidak ada halangan lain untuk aktivitas fisik normal. Kurangnya
otot perut juga dapat mengakibatkan kemampuan batuk buruk dan dapat
menyebabkan peningkatan insiden Lainnya infections.73 pernapasan menduga bahwa
otot perut kekurangan, juga dapat berkontribusi untuk constipation.39 Secara
keseluruhan Namun, tampak bahwa meskipun dinding perut kelemahan mungkin
tampak mendalam, keterbatasan fisik dari kekurangan ini sebenarnya cukup minim.
Evaluasi dinding perut telah mengungkapkan distribusi saraf normal dan pasokan
darah ke muscles.40,74 The serat otot terjadi sembarangan dan dalam kasus yang
paling parah adalah seluruhnya absen. Mikroskopis, serat dapat diganti oleh layer.9

kolagen tebal Selain itu, Mininberg et al dimanfaatkan mikroskop elektron untuk

memvisualisasikan Z-band disorganisasi dan glikogen aggregates.40
Kelainan ortopedi Kelainan ortopedi terjadi pada 45-63% dari perut prune
patients.75 Anomali yang paling sering adalah dislokasi pinggul dan talipes
equinovarus.51 cacat yang lebih parah seperti cacat anggota tubuh dan arthrogryposis
tampak sekunder untuk oligohydroamnios menyebabkan kompresi janin yang sedang
berkembang. 51,76 Selain pectus carinatum dan pectus excavatum cacat biasa hadir,
sementara scoliosis adalah Pertumbuhan abnormality.76,77 tulang belakang yang
paling umum telah ditemukan terganggu pada 32% pasien perut prune dan telah
berkorelasi dengan function.78 ginjal miskin The retardasi pertumbuhan tampaknya
paling besar dalam tahun pertama kehidupan, tapi catch-up pertumbuhan tampaknya
tetap tidak lengkap seluruh life.78
Pencernaan Kelainan gastrointestinal anomali muncul terjadi pada 30% dari anakanak yang terkena dampak prune belly. Kelainan seperti malrotasi, atresia, stenosis
dan volvulus muncul untuk menghasilkan sekunder untuk kegigihan dari mesentery.79
embrio Cacat yang sama di suspensi juga mungkin mengizinkan limpa untuk
berkeliaran bebas dan torsi limpa telah reported.80 Gastroskisis, anus imperforata dan
omphaloceles telah all been reported to occur in prune belly patients.79,81-83
Constipation may also occur and may be the result of absent abdominal muscular
tone.Selain itu, penyakit Hirshsprung telah dilaporkan terjadi pada pasien ini dan juga
dapat menyebabkan sembelit. Karena asosiasi gastrointestinal ini dilaporkan, telah
direkomendasikan bahwa semua pasien perut prune menjalani evaluasi radiografi
tract.79 GI mereka
Jantung Kelainan kelainan jantung telah dilaporkan terjadi di 10% dari patients.51
Terkait temuan jantung perut Pangkas termasuk ventrikel dan cacat septum atrium,
ductus arteriosus paten dan tetralogi Fallot.51 Mengingat asosiasi ini,
direkomendasikan bahwa semua pasien perut prune menjalani evaluasi
kardiovaskular.
Kelainan paru Seperti pembangunan paru di dalam rahim tergantung pada jumlah
yang cukup cairan ketuban, janin dengan gagal ginjal dan insufisiensi ginjal berat juga
dapat mengembangkan hipoplasia paru. Dalam kasus terburuk, hipoplasia paru yang
parah tidak sesuai dengan kehidupan dan dapat mengakibatkan kematian dalam
period.51 perinatal Tampaknya bahwa 20% dari bayi yang baru lahir akan mati pada
periode perinatal sekunder issues.71,84 paru Dari mereka yang bertahan, 55 % pasien
akan menderita berkepanjangan, paru signifikan problems.78 The dinding perut
longgar dapat mengganggu ventilasi mekanis dan dapat meningkatkan kejadian
pneumonia.85,86 ini masalah yang sama juga dapat berkontribusi untuk

pengembangan bronkitis dan gangguan pernapasan yang mungkin terjadi setelah

anestesi dan saluran pernapasan infections.78,86
Ada juga bagian dari pasien dengan fitur lengkap dari sindrom ini dan telah dijuluki
"pseudoprune". Seringkali orang-orang ini tidak akan memiliki karakteristik temuan
dinding perut, tetapi akan menderita kriptorkismus bilateral dan juga menunjukkan
saluran kemih terkait findings.87 Pasien-pasien ini masih beresiko terkena gagal
ginjal dan karena itu harus diikuti closely.87
PBS di Gadis Lima persen anak perut prune adalah perempuan. Kelainan terkait pada
anak ini termasuk penampilan dinding perut yang khas dan kelainan saluran kemih
(Gambar 6) 0,11 temuan tambahan pada wanita ini termasuk tingkat tinggi atresia
vagina, rahim dan duplikasi anus imperforata. Reinberg et al, dalam seri mereka
perempuan dengan Sindrom Prune Belly juga menunjukkan tingkat tinggi hipoplasia
ginjal dan displasia, mirip dengan laki-laki atresia counterparts.11 uretra mereka,
duplikasi rahim, dan anomali anorektal sering terjadi pada anak perempuan
tersebut. Angka kematian perinatal tinggi; dari empat pasien yang masih hidup, gagal
ginjal dikembangkan dalam dua dan transplantasi ginjal adalah required.11
PRESENTASI DAN EVALUASI
Prenatal Diagnosis dan Intervensi
Diagnosis Sindrom Prune Belly dapat diduga sedini 11 minggu kehamilan melalui
ultrasound.88 prenatal Terkait temuan sonografi termasuk oligohydroamnios atau
anhydramnios, hidroureter, kandung kemih distensi dan tipis, dilemahkan wall.89
perut Megacystis sindrom megaureter atau posterior katup uretra , mungkin memiliki
temuan serupa di ultrasonogram janin. Meskipun kemampuan ultrasonik modern dan
visualisasi telah membaik, masih bisa sulit untuk menetapkan diagnosis prenatal yang
pasti. Laporan sebelumnya telah menunjukkan bahwa akurasi diagnostik prenatal
untuk memastikan etiologi hidronefrosis bervariasi antara 30-85% .90
Identifikasi temuan prenatal atas telah mendorong beberapa baik merekomendasikan
penempatan di-rahim dari shunt vesicoamniotic untuk dekompresi saluran kemih dan
membentuk jumlah normal cairan ketuban atau menyarankan penghentian
pregnancy.91-94 Derajat sistem pengumpulan dilatasi, bagaimanapun, tidak mewakili
keparahan obstruksi juga tidak mencerminkan fungsi ginjal pasca-persalinan. Jadi
mungkin sulit untuk membenarkan kebutuhan untuk intervensi atau penghentian
menggunakan tingkat Kriteria hidronefrosis alone.95 digunakan untuk di-rahim
shunting mencakup kariotipe normal, oligohydroamnios parah dan normal janin
function.94 ginjal Keputusan untuk campur tangan didasarkan pada evaluasi seri dari
kimia urin janin seperti natrium, klorida, osmolaritas, mikroglobulin, dan jumlah Janin

protein.96 dengan urin tinggi natrium dan osmolaritas nilai memiliki prognosis
termiskin. Dalam contoh langka oligohidramnion progresif dengan uretra atresia97
atau obstruksi potensial selama persalinan karena intervensi besar-besaran kandung
kemih distensi dapat beneficial.91 Meskipun beberapa laporan kasus
mendokumentasikan kemampuan untuk melakukan prosedur ini, ulasan telah gagal
untuk menunjukkan perbaikan yang berkelanjutan di ginjal dan paru function.90,98,99
Selain itu, komplikasi penempatan shunt telah terjadi termasuk gastroschisis traumatis
sekunder untuk dinding perut cacat dari shunt.100 salah Freedman et al juga
menunjukkan tingkat kematian 38% dan 29% tingkat kegagalan ginjal pada anak-anak
yang menjalani intrauterine interventions.97 Akan terlihat bahwa di-rahim intervensi
memiliki potensi tertentu, tetapi belum mencapai ginjal yang diinginkan atau manfaat
perbaikan paru. Mengingat keadaan ini, intervensi janin membutuhkan penilaian
risiko / manfaat-hati dan diskusi dengan orang tua anak.
Peripartum Perawatan Sejak bayi baru lahir mungkin memerlukan dukungan dan
perawatan neonatal ventillatory canggih, adalah bijaksana untuk memiliki pengiriman
mana fasilitas perawatan neonatal yang tersedia. Pengiriman mungkin rumit oleh
persalinan prematur, korioamnionitis atau jebakan janin karena kandung kemih yang
membesar. Hipoplasia paru yang terkait pada bayi dengan sindrom prune perut dapat
menyebabkan pneumotoraks.Untuk neonatus yang memiliki hipoplasia paru,
dukungan canggih seperti ventilasi frekuensi tinggi dan mungkin dihirup nitrat oksida
(iNO) akan required.101 Sebuah tim obstetri dan neonatal berpengalaman harus hadir
pada saat persalinan.
Periode neonatal penampilan prune-seperti Karakteristik dari perut biasanya
menyarankan diagnosis (Gambar 1). Sebuah pendekatan multi-disiplin diperlukan
untuk evaluasi awal, khususnya keterlibatan neonatologist, nephrologist dan
urolog. Keterlibatan disiplin lain akan tergantung pada profil klinis.Jika ada
keterlibatan jantung atau paru, evaluasi dan pengobatan ini diutamakan selama segera
pemeriksaan post natal. Keterlibatan genitourinari dapat dinilai setelah anak stabil.
Evaluasi ginjal Fungsi Sebuah kreatinin awal berfungsi sebagai dasar tetapi nilai
mungkin terkait dengan kreatinin ibu. Serial pengukuran kreatinin serum sangat
penting untuk menentukan fungsi ginjal neonatal serta untuk memantau
tren. Kenaikan kreatinin selama beberapa minggu pertama menandakan prognosis
buruk. Jika kreatinin yang tercatat Nadir kurang dari 0,7 ng / dl, telah mencatat bahwa
gagal ginjal berikutnya kurang likely.102 Selain itu, elektrolit serum juga harus
dipantau dan dapat membantu dalam menilai fungsi ginjal secara keseluruhan.
Pencitraan evaluasi radiografi dari bayi yang baru lahir harus dimulai dengan
radiografi dada. Ini akan membantu menyingkirkan komplikasi paru terkait sebagai
akibat dari oligohidramnion yang dapat dilihat dengan PBS, khususnya pneumotoraks,

pneumomediastinum, dan hypoplasia.103 paru ginjal dan kandung kemih USG dapat
menilai parenkim, yang kehadiran kista kortikal dan kandung kemih distensi. Sebuah
voiding cystourethrogram (VCUG) harus diperoleh (Angka 3, 5) di hadapan
insufficiency104 ginjal untuk membedakan antara obstruksi dan stasis. Idealnya,
antibiotik profilaksis harus dimulai sebelum VCUG sebuah diperoleh untuk
meminimalkan risiko infeksi. Pada bayi baru lahir dengan fungsi ginjal normal dan
bukti klinis kandung kemih pengosongan, VCUG dapat ditunda, karena hampir 70%
dari anak-anak memiliki vesicoureteral refluks. 105, 106 kedokteran nuklir memindai
ginjal dengan 99mTcDMSA atau 99mTcMAG3 membantu untuk mengidentifikasi
berfungsi jaringan ginjal. Namun, stasis karena ureter pelebaran dan ketidakjujuran
dapat menghalangi setiap diagnosis obstruksi dengan Lasix washout renography
(Gambar 7). Renography dapat diperoleh setelah 4 minggu untuk memungkinkan
perubahan selama fisiologi neonatal.
PENGELOLAAN
Spektrum PBS
Karena ada spektrum yang luas dari menyajikan karakteristik pada pasien dengan PBS
tiga kategori utama dari presentasi pada periode neonatal digambarkan oleh
Woodard.107 Meskipun tidak ada batas yang jelas antara kategori, klasifikasi ini
membantu perencanaan evaluasi dan pengelolaan neonatus.
Karena kelangkaan sindrom prune perut, sebagian besar literatur dijelaskan
didasarkan pada serangkaian kasus. Hasil dari neonatus dari Kategori I, lahir dengan
displasia paru terus menjadi miskin. Mortalitas di rumah sakit pasien baru lahir
dengan PBS mati selama mereka awal tinggal di rumah sakit adalah 31% .Prematurity
dan gangguan paru yang sangat berhubungan dengan di rumah sakit mortality.10
Dengan perawatan neonatal yang lebih baik dan manajemen yang efisien dari saluran
kemih, kelangsungan hidup telah meningkat selama bertahun-tahun. Dengan rencana
individual pengobatan dan perawatan, prospek keseluruhan untuk pasien PBS, baik
untuk bertahan hidup dan untuk kualitas pelayanan, telah membaik, terutama melalui
kemajuan dalam perawatan neonatal, teknik bedah dan evaluasi diagnostik. Meskipun
pendekatan bedah agresif mungkin tidak diperlukan pada semua pasien, teliti
menindaklanjuti dan manajemen aktif pielonefritis dan obstruksi saluran kemih sangat
penting. Sepertiga dari mereka dengan gangguan fungsi ginjal pada evaluasi awal
mengembangkan insufisiensi ginjal kronis selama masa kanak-kanak atau
remaja. Hasil transplantasi ginjal tampaknya sebanding dengan usia cocok pasien nonPBS. Dinamika kandung kemih dan pola berkemih juga dapat berubah dari waktu ke
waktu. Oleh karena itu, jangka panjang tindak lanjut sangat penting untuk memastikan
kualitas mendekati normal hidup pasien dengan sindrom prune perut.

Gambar Legends
Gambar 1: dinding perut Lax dilihat di Prune Belly Syndrone Gambar 2: ginjal
ultrasonogram dari bayi yang baru lahir dengan PBS dengan hydroureteronephrosis
ditandai (Gambar 2 A: Waktu ginjal; Gambar 2B: ginjal kanan) Gambar 3: VCUG
menunjukkan refluks vesicoureteral bilateral dengan ureter melebar Gambar 4 :
ultrasonogram kandung kemih menunjukkan kandung kemih menebal
dinding Gambar 5: prostat Hypoplastic dengan uretra prostat membesar Gambar 6:
cystogram menunjukkan kandung kemih besar dalam seorang gadis dengan
PBS Gambar 7: MAG 2 renogram dalam anak dengan PBS, buruk berfungsi ginjal
kanan, dilatasi mengumpulkan kiri . Sistem dan stasis dari tracer Gambar 8 A: Insisi
ditandai untuk Montfort Abdominoplasty. Pulau kulit untuk neoumbilicus juga
ditandai. Gambar 8 B: Flap kulit telah dibangkitkan menjaga vaskularisasi ke pulaupulau kulit untuk neoumbilicus tersebut. Gambar 8 C: Scoring peritoneum dengan
diathermy, Gambar 8 D: Mengamankan flap otot pulau pusat ke posterior peritoneum
parietal

J CHANDRA SINGH, MD
Divisi Pediatric Urology
Rumah Sakit Anak Nationwide
Columbus, OH 43205.chandra.singh@nationwidechildrens.org
Venkata RAMA Jayanthi, MD *
Divisi Pediatric Urology
Rumah Sakit Anak Nationwide
Columbus, OH 43205
rama.jayanthi@nationwidechildrens.org
*Penulis yang sesuai
Pengakuan: Kami berterima kasih kepada Dr. Brian VanderBrink untuk foto-foto
operasi.

PRUNE BELLY SYNDROME

DOUGLAS W STORM, MD
Department of Urology
San Diego Naval Medical Center
34800 Bob Wilson Drive
San Diego, CA 92134
douglas.storm@med.navy.mil

ASHAY PATEL, DO
Division of Pediatric Urology
Nationwide Childrens Hospital
Columbus, OH 43205
ashay.patel@nationwidechildrens.org

INTRODUCTION
Prune Belly syndrome consists of a constellation of congenital malformations, with
the three major abnormalities being laxity of the abdominal wall, bilateral
undescended testes and abnormalities of the genitourinary tract. While the unusual
prune-like appearance of the abdomen (Figure 1) is the hallmark that usually
identifies these patients, their underlying renal function is the most important factor in
determining their overall survival. Urinary abnormalities that have been associated
with prune belly syndrome include hydronephrosis, tortuous dilated ureters, variable
degrees of renal dysplasia and an enlarged bladder. The respiratory, musculoskeletal,
gastrointestinal, orthopedic and cardiac systems may also be involved. There seems to
be a broad spectrum of severity within this syndrome as some children with severe

pulmonary and kidney disturbances will not survive the neonatal period, while others
with minimal involvement will only be modestly affected.
The abdominal wall defect was first described by Frlich in 1839 and later was
graphically recorded by Platt.1 Parker was the first to report a male infant with all
three classic components of the prune belly syndrome.2 Osler in 1901 was the first to
utilize the name prune belly and recognized the distended bladder associated with
this syndrome.1,3 While, the title prune belly syndrome has persisted throughout
the years, others have found this designation distasteful and utilized names such as the
triad syndrome, mesenchymal dysplasia and the Eagle-Barrett syndrome.4-6
Prune belly syndrome affects between 1 in 30,000 to 1 in 50,000 births, with 95%
occurring in male infants.7-9 A recent Kids Inpatient Database review revealed 133
newborn male infants with PBS of 1 420 991 births, with an incidence estimate of 3.8
cases/100 000 live births.10 Involved females present with absent abdominal
musculature as well as abnormalities of the genital and urinary systems.11 There also
appears to be a higher incidence in twin pregnancies as well as children born to
younger mothers.8

GENETICS
No clear genetic pattern for prune belly syndrome exists, although there is a
hypothesized familial inheritance pattern in some isolated cases. Prune belly
syndrome been reported to occur in twins, cousins and both male and female siblings,
suggesting a familial inheritance.12-23 Ramasamy et al reviewed the majority of these
familial cases in 2004.12 They surmised that there may be a sex influenced, autosomal
recessive inheritance pattern that may account for these isolated reports. As diseases
inherited in an autosomal recessive pattern appear to occur at a higher frequency in
consanguineous marriages, additional evidence for this inheritance pattern is
suggested by reports by Frydman and Adeyokunnu.13,24 Frydman reported a case of
prune belly syndrome in a male born to a couple in a consanguineous relationship;
while Adeyokunnu reported a higher incidence of this syndrome in Nigeria, an area
with known greater rates of consanguinity.13,24 Riccardi and Grum have also
suggested a two-step autosomal dominant mutation with sex-limited expression that
may account for the male predominance of this syndrome, as well as the infrequent
number of affected family members.18 While these reports make an argument for a
familial inheritance pattern, the majority of the cases appear to occur in a sporadic
nature. Ives et al in their review of children affected with prune belly syndrome noted
eleven pairs of twins discordant for the syndrome which speaks against an entirely
genetic basis accounting for this syndromes occurrence.5

In addition, specific chromosomal abnormalities are also rare. Prune belly syndrome
has been associated with trisomy 13, trisomy 18, trisomy 21 and Turners syndrome,
but a specific relationship has not been demonstrated.25-27 Translocations and
pericentric inversions of chromosome 9 have also been reported in fetuses that exhibit
this syndrome. However, these chromosomal findings are non-specific, as not all
children with this syndrome have these chromosomal abnormalities, nor do all
children with pericentric inversions of chromosome 9 exhibit the prune belly
syndrome.28
Associations between posterior urethral valves, Perlman syndrome, BeckwithWiedemann syndrome, the VACTERL association and the megacystis-microcolonintestinal hypoperistalsis syndrome have been reported.29-32 These associations
suggest a common pathogenesis between prune belly syndrome and these other
conditions.

EMBRYOLOGY
There are three major theories that exist to explain the prune belly syndrome: fetal
outlet obstruction, mesodermal arrest and the yolk sac theory.
Fetal Outlet Obstruction In 1903, Stumme suggested that the prune belly syndrome
occurred secondary to bladder outlet obstruction.33 He surmised that this infravesical obstruction resulted in the bladder distension, urethral dilation and
hydronephrosis characteristic of this syndrome. Dilation of the bladder was also felt to
result in atrophy of the abdominal wall through venous infarction and also obstruct the
normal dissent of the testicles.34 This theory was later substantiated by Gonzalez et
al who recreated the phenotypic findings found in prune belly syndrome by
obstructing the fetal lamb urethra at 43-45 days gestation.35 If infra-vesical
obstruction were to result in the findings associated with the prune belly syndrome, it
would appear that the timing and severity of this obstruction must be critical since the
associated findings of this syndrome are distinct from other obstructive uropathies.
Based on the development timeline of the fetus, it would seem that the obstruction
would need to occur between the 13th and 15th weeks of gestation. Obstruction at this
time could account for the abnormalities found in the prune belly syndrome since by
this time the urachus has begun to close, significant fetal urine production has
occurred and prostatic development is also just beginning.9
In humans, urethral obstruction is actually only identified in about 10-20% of cases.36
Some have postulated that the obstruction may be transient, while others have
speculated that those with obstructive lesions may only represent the most severe form
of the prune belly syndrome. Most of these infants that actually demonstrate urethral

obstruction are from autopsy studies, therefore some feel that the urethral obstruction
model may actually account for the lethal variant and may not account for children
that survive.37 To counteract this argument, some have surmised that the hypoplastic
prostatic urethra could actually function as an obstructing flap valve. In an autopsy
series, Moerman et al found that the prostates of prune belly children were devoid of
smooth muscle fibers and that tuboalveolar glands were reduced in number.38 They
postulated that these hypoplastic prostates resulted in weakness of the prostatic walls
and sacculation of the prostatic urethra. They noted this bulging was most marked
along the dorsal and caudal aspects and felt that this resulted in the membranous
urethra inserting more dorsally, in an oblique manner, into the prostatic urethra. It was
felt that this abnormal insertion into the hypoplastic prostatic urethra could result in a
flap valve mechanism, causing a functional obstruction. In this fashion, prostatic
hypoplasia could be the cause and not necessarily the effect of the prune belly
syndrome. Others have hypothesized that delayed canalization of the distal urethra
could be the cause of obstruction.39 This delay could account for the inability to
identify a true obstruction at the time of birth, as well as the development of the
megalourethra that may occur in this syndrome.
The obstructive theory contends that the abdominal wall findings are secondary to
pressure effects of the bladder on the developing abdominal muscles. Supporting this
theory, the muscles directly over the bladder seem to be the ones that are most
severely affected. In addition, Moerman et al also identified dystrophic muscle
changes upon histologic analysis in their autopsy study.38 They felt that that these
histologic findings could be compatible with Pintos description of muscular venous
infarction, which he felt, was secondary to pressure from the distended urinary
bladder. However, other histologic and electron microscopy studies of the abdominal
wall are more consistent with developmental arrest, rather that atrophy, and fail to
support outlet obstruction as the cause of the abdominal wall abnormalities.40,41
While fetal infra-vesical obstruction seems plausible, it fails to account for all of the
findings associated with prune belly syndrome. Certainly there are inconsistencies
with this theory and not all factors common in prune belly children can be explained
by this model.
Theory of Mesodermal Arrest This theory suggests that the etiology of the prune
belly syndrome is secondary to a noxious insult to the embryonic mesoderm. During
normal fetal development, the mesoderm flows out between the ectoderm and
endoderm. The mesoderm then divides into segments medially and laterally, which
form the somites and the lateral plate, respectively. The lateral plate then further splits
into a visceral and somatic layer. The somatic layer between the somites and the
lateral plate forms the nephrogenic mesoderm, which is the precursor of the
mesonephros, wolffian duct and metanephros. The somatic layer of the lateral plate

mesoderm is the source of abdominal wall musculature, while the visceral layer of the
lateral plate mesoderm gives rise to the smooth muscle of the urinary and
gastrointestinal tracts.9 Many believe that abnormalities of the mesoderm could
account for the syndromes abdominal wall and genitourinary findings.
Stephens and Gupta proposed that abnormalities of the urinary tract could be
explained by abnormal development of the mesonephros between the 6th and 10th
weeks. Normally, the Wolffian duct, which is a derivative of the mesoderm, terminates
caudally into the urogenital sinus and becomes incorporated into the future
membranous urethra and demarcates the verumontanum. The wolffian ducts and
ureteric buds are further incorporated into the trigone, with the ureteric buds growing
into the nephrogenic blastema. Abnormal incorporation of the terminal wolffian ducts
could produce prostatic hypoplasia, dilation of the prostatic urethra and even valvelike obstructions. In addition, involvement of the ureteric buds could lead to abnormal
ureteral development and even dysplastic renal development if the interaction with the
nephrogenic blastema is abnormal.42 Simultaneous failure of the somatic layer of the
lateral plate mesoderm could then account for the abdominal wall defects.
Ives proposed that the mesodermal defect could occur as early as the 3rd week of
gestation. She felt that at the division of the embryonic disc, which normally occurs at
the 3rd week, could account for the discordant occurrence seen with monozygotic
twins.5 Others postulate that the mesodermal abnormalities could also account for
difficulties in testicular descent. They feel that abnormalities in the testicular
gubernaculums, also derivatives of the mesoderm, could result in unresponsiveness of
these tissues to hormonal influences and thus not allow the testes to descend
normally.43-46
However, even the mesodermal arrest theory fails to explain all of the factors
associated with the prune belly syndrome. Further evidence and explanation is
necessary to fully support this theory as the cause of this syndrome.
The Yolk Sac Theory Stephens has proposed an additional theory to explain the
features associated with the prune belly syndrome. He hypothesizes that in children
with prune belly syndrome, the bladder and posterior urethra are derived from a larger
portion of the allantois than is normally accepted and that an abnormal amount of the
yolk sac is retained as well. This abnormal amount of yolk sac could affect the
abdominal wall development and result in the prune-like appearance. In addition,
the allantoic diverticulum, may be incorporated into the urinary tract and account for
the enlarged urachus, bladder and prostatic urethra apparent in the prune belly
syndrome.42 However, this theory fails to account for all of the abnormalities seen in
the renal and genital tract.

CLINICAL FEATURES
Genitourinary Abnormalities
Kidneys There is a wide variation in renal presentation, ranging from normal to
severely dysplastic, nonfunctional kidneys.47 It is the degree of renal dysplasia and
the childs overall renal function that usually determines their prognosis. These renal
issues and its resultant pulmonary hypoplasia account for a 20% chance of stillbirth or
death in the neonatal period, with an additional 30% progressing to renal failure in the
first two years of life.33,48 Histologically, the most dysplastic kidneys are similar to
those described by Potter demonstrating few nephrons and other disorganized
features.9
Hydronephrosis is also a common finding (Figure 2A, B) and currently is usually
detected on prenatal ultrasounds.49 One must remember that the degree of
hydronephrosis does not necessarily correlate with renal function, the degree of
ureteral dilation or the abdominal wall laxity.50 In addition, it is not unusual to
identify asymmetric renal involvement, with one kidney demonstrating severe
hydronephrosis and/or dysplasia as compared to the normal contralateral side.51
Ureteropelvic junction obstruction has also been reported, however non-obstructive
hydronephrosis is the general rule.52 In those patients with preserved renal function, it
appears that urinary tract infections may pose the greatest risk to damaging their
kidneys.53
Ureters The ureters are elongated, dilated and tortuous (Figure 3), with the lower
one third being more profoundly affected as compared to the proximal portion.33
Vesicoureteral reflux occurs in up to 75% of patients and the ureteric orifices may be
wide and patulous.9 Fluoroscopic images of the ureters may demonstrate ineffective
peristalsis, however typically they are unobstructed and drain adequately.33 Although
rare, there are reports of obstruction at both the ureteropelvic junction and
ureterovesical junction.38,43,54
Histologic examination of the ureters reveals alterations in the ureteral wall
architecture. Hypertrophy and smooth muscle hyperplasia, which may be seen in
patients with posterior urethral valves and vesicoureteral reflux, is typically absent in
the prune belly syndrome. Instead, smooth muscle is sparse or even absent and may be
replaced with cellular fibrous tissue.4,38 There also appears to be an increase in the
ratio of collagen to smooth muscle in the ureteric muscular layer, especially if vesicoureteral reflux is present.55 Although present throughout the ureter, the proximal
portion of the ureter appears to have more smooth muscle cells as compared to the
distal portion.4,56 There also appears to be a decrease in the number of nerve
plexuses and Schwann fibers within the ureter as well. These histologic features may

interfere with cell-to-cell impulse propagation and result in poor ureteral peristalsis.
These features should also be taken into consideration if ureteral surgery is undertaken
in these patients.
Bladder The bladder in patients with the prune belly syndrome is typically enlarged
and thickened (Figure 4), but trabeculations are usually absent.9 This is in sharp
contrast to the bladder of a patient with posterior urethral valves, which is usually
markedly trabeculated. During a cystogram, the bladder therefore is typically smooth
walled and may demonstrate an urachal remnant or diverticulum. Urachal remnants
may attenuate the bladder to the abdominal wall. Urachal cysts or a fully patent
urachus are present in 25-50% of the cases.36,42,43 The trigone is typically enlarged
with laterally placed, patulous ureteral orifices, which accounts for the common
association with vesicoureteral reflux.9 The trigone also typically funnels into a
poorly defined, wide open bladder neck.39
Histologically, the bladder appears to demonstrate two patterns in patients with prune
belly syndrome. In patients with definite lower urinary tract obstruction the thickened
bladders demonstrate an increased muscle quantity and a normal collagen to muscle
ratio. Bladders without obstruction demonstrate a thinner bladder wall with an
increase in the collagen to muscle ratio.57 The bladder innervation though appears to
be normal with a normal distribution of ganglion cells.4
Urodynamic evaluation of the prune belly bladder typically reveals a large capacity
bladder with normal resting pressures.4 These patients usually also demonstrate a
delayed first sensation of fullness with poor bladder contractility.58,59 Bladder
instability with uninhibited detrusor contractions may occur, but usually are rare.58-60
Kinahan et al reported in their series that 44% of their patients were able to void
spontaneously, with normal voiding pressures and low residual volumes; while the
others required clean intermittent catheterization.59 Certainly this poor contractility
as well as the massive vesicoureteral reflux seen in these patients would account for
the high levels of residual urine that may be seen in these individuals.
Prostate and Posterior Urethra The prostatic urethra is typically elongated and
tapers at the membranous urethra (Figure 5). In addition the bladder neck is usually
widely patent and dilated. These characteristics give the prostatic urethra a typical
triangular shape on radiographs.33 The anterior prostatic wall is typically shorter
than the posterior wall. The verumontanum is usually small or absent and a utricular
diverticulum may be present.33 A true obstruction at the level of the prostatic or
membranous urethra is rare, only occurring in 10-20% of cases.33 As discussed
earlier, these patients who demonstrate true urethral obstructions are generally
considered to be the most severe form of prune belly syndrome. Without a true
urethral obstruction, Stephens has postulated that there may be kinking of the prostatic

urethra secondary to the differences in length between the anterior and posterior
prostate. This kinking may then account for a functional obstruction by creating a flap
valve of the urethra.42
Histologic analysis of the prostate in prune belly patients has revealed severe
hypoplasia, with minimal smooth muscle and tubuloalveolar glands.38 In
comparison, the prostates from patients with posterior urethral valves revealed a
normal amount of smooth muscle and glandular parenchyma that was compressed but
otherwise normal. This lead Moerman to speculate that the dilated, hypoplastic
prostate is the cause, rather than the effect, of the prune belly syndrome.38
Anterior Urethra Typically the anterior urethra in these patients is normal, although
there have been reports of both urethral atresia and microurethras, as well as the
development of the megalourethra in these patients. Those patients with either urethral
atresia or a microurethra typically only survive secondary to a patent urachus. Some
have suggested that these narrow urethras are normally developed, but underused and
may therefore be managed with progressive dilation.61
The two types of megalourethra, scaphoid and fusiform, may be associated with this
syndrome. In the fusiform variety, the corpora cavernosa is deficient as well as the
spongiosum. This form is more severe and may be associated with renal dysplasia and
other lethal abnormalities.62 Scaphoid megalourethra, which is the more common and
less severe form, is characterized by only a deficiency of the spongiosum, with
preservation of the corpora cavernosa, glans and fossa navicularis.33 It is believed
that a mesodermal defect could account for these urethral maldevelopments.63
Accessory Male Sex Organs Abnormalities of the vas deferens, epididymis and
seminal vesicles have been noted. Given the common mesodermal derivation of these
organs, these findings are not surprising. The epididymis is commonly detached from
the testes and the vas has been found to drain ectopically.64 In addition, the seminal
vesicles may be dilated or even atretic or absent.42 All of these findings, along with
the abnormal testicular histology are significant in regards to these patients future
fertility.
Testis Bilateral cryptorchidism is considered a hallmark of this syndrome, with the
majority of these testes being intra-abdominal above the level of the iliac vessels.33
The gubernaculums originally were suggested to be normal, although elongated and
attached to the internal inguinal ring; however Elder et al have suggested that the
gubernaculum may actually be abnormal and possibly even absent.4,45 This
explanation may also account for the maldescent of these testes, in addition to the
theory of obstruction from the distended bladder.

Histologically these testes also demonstrate a variety of abnormalities. Orvis et al

have reported a reduction in the number of spermatogonia, as well as Leydig cell
hyperplasia.65 In addition, Massad et al have demonstrated atypical germ cells with
abnormal nuclei.66 These abnormal germ cells resemble intratubular testicular
neoplasms and thus children with prune belly syndrome must be closely monitored for
the development of testicular tumors. Indeed, there have been documented cases of
testicular tumors developing in these patients, but overall the risk does not appear to
be greater than other patients with undescended testes.67-69
Sexual Function and Fertility Sexual function in patients with prune belly
syndrome appears to be intact. Provided that the corpora cavernosum are normal,
these patients may experience normal erections and orgasm and may maintain
satisfying sexual relationships.70 However, given the open bladder neck, these
patients experience retrograde ejaculation and tend to be azoospermic.70,71 There are
no reports of fathers with prune belly syndrome reproducing naturally. To date the
only reported case of paternity in a patient with prune belly syndrome involved
intracytoplasmic sperm injection.72 Clearly, the infertility associated with this
syndrome is multifactorial as there are histologic abnormalities of the testes and
prostate, as well as anatomic abnormalities of the prostate, bladder neck, vas deferens,
seminal vesicles and testicles.
Extragenitourinary Abnormalities
Abdominal Wall The characteristic wrinkled, prune-like skin of the newborn is
one characteristic finding in children with prune belly syndrome (Figure 1). This
appearance is secondary to skeletal muscle hypoplasia that occurs in all three muscle
layers of the abdominal wall.40 The upper rectus muscles and outer oblique muscles
are usually better developed and the degree of hypoplasia may be variable and
asymmetric 9, 33. The order of involvement from most to least involved is:
transversus abdominis, rectus abdominis below the umbilicus, internal oblique,
external oblique and rectus abdominis above the umbilicus.6 The more developed
upper rectus abdominis muscle results in cephalic displacement of the umbilicus.
Indeed, the diminished muscle mass may allow one to see the bowel peristalsis
through the skin.
The impaired abdominal wall may hinder a newborns ability to sit from the supine
position and may delay the childs ability to walk.33 Otherwise, there appears to be no
other hindrance to normal physical activity. The lack of abdominal muscle may also
result in a poor coughing ability and may contribute to an increased incidence of
respiratory infections.73 Others surmise that the deficient abdominal muscles, may
also contribute to constipation.39 Overall however, it appears that although the

abdominal wall laxity may be visibly profound, the physical limitations from this
deficiency are actually quite minimal.
Evaluation of the abdominal wall has revealed normal nerve distribution and blood
supply to the muscles.40,74 The muscle fibers occur haphazardly and in the most
severe cases are entirely absent. Microscopically, the fibers may be replaced by a thick
collagenous layer.9 In addition, Mininberg et al utilized electron microscopy to
visualize Z-band disorganization and glycogen aggregates.40
Orthopedic Abnormalities Orthopedic abnormalities occur in 45-63% of prune
belly patients.75 The most frequent anomalies are hip dislocation and talipes
equinovarus.51 More severe deformities such as limb deformities and arthrogryposis
appear to be secondary to oligohydroamnios causing compression of the developing
fetus.51,76 In addition pectus carinatum and pectus excavatum deformities are
commonly present, while scoliosis is the most common spinal abnormality.76,77
Growth has been found to be impaired in 32% of prune belly patients and has
correlated with poor renal function.78 The growth retardation appears to be most
profound in the first year of life, but catch-up growth appears to remain incomplete
throughout life.78
Gastrointestinal Abnormalities Gastrointestinal anomalies appear to occur in up to
30% of affected prune belly children. Abnormalities such as malrotation, atresia,
stenosis and volvulus appear to result secondary to persistence of the embryonic
mesentery.79 The same defects in suspension may also allow the spleen to wander
freely and splenic torsion has been reported.80 Gastroschisis, imperforate anus and
omphaloceles have all been reported to occur in prune belly patients.79,81-83
Constipation may also occur and may be the result of absent abdominal muscular
tone. In addition, Hirshsprungs disease has been reported to occur in these patients
and may also contribute to the constipation. Because of these reported gastrointestinal
associations, it has been recommended that all prune belly patients undergo
radiographic evaluation of their GI tract.79
Cardiac Abnormalities Cardiac abnormalities have been reported to occur in 10%
of prune belly patients.51 Associated cardiac findings include ventricular and atrial
septal defects, patent ductus arteriosus and tetralogy of Fallot.51 Given these
associations, it is recommended that all prune belly patients undergo cardiovascular
evaluation.
Pulmonary Abnormalities As pulmonary development in utero is dependent on
adequate amounts of amniotic fluid, fetuses with renal failure and severe renal
insufficiency may also develop pulmonary hypoplasia. In the worst cases, severe
pulmonary hypoplasia is incompatible with life and may result in death in the

perinatal period.51 It appears that 20% of newborns will die in the perinatal period
secondary to pulmonary issues.71,84 Of those that survive, 55% of patients will suffer
prolonged, significant pulmonary problems.78 The lax abdominal wall may impair
mechanical ventilation and can increase the incidence of pneumonia.85,86 These
same issues may also contribute to the development of bronchitis and respiratory
compromise that may occur after anesthesia and respiratory tract infections.78,86
There are also a subset of patients with incomplete features of this syndrome and have
been dubbed the pseudoprune. Often these individuals will not have the
characteristic abdominal wall findings, but will suffer from bilateral cryptorchidism
and also demonstrate the associated urinary tract findings.87 These patients are still at
risk for developing renal failure and therefore must be followed closely.87
PBS in Girls Five percent of prune belly children are female. Associated
abnormalities in these children include the typical abdominal wall appearance and
urinary tract abnormalities (Figure 6).11 Additional findings in these females included
a high rate of vaginal atresia, uterine duplication and imperforate anus. Reinberg et al,
in their series of females with prune belly syndrome also demonstrated a high rate of
renal hypoplasia and dysplasia, similar to their male counterparts.11 Urethral atresia,
uterine duplication, and anorectal anomalies occurred frequently in these girls. The
perinatal mortality rate was high; of the four surviving patients, renal failure
developed in two and renal transplantation was required.11
PRESENTATION AND EVALUATION
Prenatal Diagnosis and Intervention
The diagnosis of prune belly syndrome may be suspected as early as 11 weeks of
gestation via prenatal ultrasound.88 Associated sonographic findings include
oligohydroamnios or anhydramnios, hydroureter, a distended bladder and a thin,
attenuated abdominal wall.89 Megacystis megaureter syndrome or posterior urethral
valves, may have similar findings in fetal ultrasonogram. Although modern ultrasonic
capabilities and visualization have improved, it can still be difficult to establish a
definite prenatal diagnosis. Previous reports have shown that prenatal diagnostic
accuracy to ascertain the etiology of hydronephrosis varies between 30-85%.90
The identification of the above prenatal findings have prompted some to either
recommend in-utero placement of a vesicoamniotic shunt in order to decompress the
urinary tract and establish a normal amount of amniotic fluid or suggest termination of
pregnancy.91-94 The degree of collecting system dilatation, however, does not
represent the severity of obstruction nor does it reflect the post-natal renal function.
Thus it may be difficult to justify the need for any intervention or termination using

degree of hydronephrosis alone.95 Criteria used for in-utero shunting include a

normal karyotype, severe oligohydroamnios and normal fetal renal function.94
Decision to intervene is based on serial evaluations of fetal urine chemistries such as
sodium, chloride, osmolarity, microglobulin, and total protein.96 Fetuses with high
urine sodium and osmolarity values have the poorest prognosis. In the rare instance
of progressive oligohydramnios with urethral atresia97 or potential obstruction during
labor due to massively distended bladder intervention may be beneficial.91 Despite
several case reports documenting the ability to perform this procedure, reviews have
failed to demonstrate a sustainable improvement in renal and pulmonary
function.90,98,99 In addition, complications of shunt placement have occurred
including traumatic gastroschisis secondary to an abdominal wall defect from a
misplaced shunt.100 Freedman et al also demonstrated a 38% mortality rate and 29%
renal failure rate in children that underwent intrauterine interventions.97 It would
seem that in-utero intervention has certain potential, but does not yet achieve the
desired renal or pulmonary improvement benefit. Given these circumstances, fetal
intervention requires a careful risk/benefit assessment and a thorough discussion with
the childs parents.
Peripartum Care Since the newborn may require ventillatory support and advanced
neonatal care, it is prudent to have the delivery where neonatal care facilities are
available. Delivery may be complicated by preterm labor, chorioamnionitis or fetal
entrapment due to the enlarged bladder. The associated pulmonary hypoplasia in
infants with prune belly syndrome can lead to pneumothoraces. For neonates who
have pulmonary hypoplasia, advanced support such as high-frequency ventilation and
possibly inhaled nitric oxide (iNO) will be required.101 An experienced obstetric and
neonatal team should be present at delivery.
Neonatal Period The characteristic prune-like appearance of the abdomen usually
suggests the diagnosis (Figure 1). A multi-disciplinary approach is required for the
initial evaluation, specifically involvement of the neonatologist, nephrologist and
urologist. Involvement of other disciplines will depend on the clinical profile. If there
is cardiac or pulmonary involvement, evaluation and treatment of these take
precedence during the immediate post natal examination. Genitourinary involvement
may be assessed once the child is stable.
Evaluation of Renal Function An initial creatinine serves as a baseline but the
value may be related to maternal creatinine. Serial serum creatinine measurements are
essential to determine the neonatal renal function as well as to monitor the trend. A
rise in creatinine over the first several weeks portends a poor prognosis. If the
creatinine is noted to nadir at less than 0.7 ng/dl, it has been noted that subsequent
renal failure is less likely.102 In addition, serum electrolytes should also be monitored
and may be helpful in assessing overall renal function.

Imaging Radiographic evaluation of the newborn should begin with chest

radiography. This will help rule out any associated pulmonary complications as a
result of oligohydramnios which can be seen with PBS, specifically pneumothorax,
pneumomediastinum, and pulmonary hypoplasia.103 Renal and bladder ultrasound
can assess parenchyma, the presences of cortical cysts and bladder distension. A
voiding cystourethrogram (VCUG) should be obtained (Figures 3, 5) in the presence
of renal insufficiency104 to differentiate between obstruction and stasis. Ideally,
prophylactic antibiotics should be started before a VCUG is obtained to minimize the
risk of infection. In the newborn with normal renal function and clinical evidence of
bladder emptying, a VCUG can be delayed, since nearly 70% of children have
vesicoureteral reflux. 105, 106 Nuclear medicine renal scan with 99mTcDMSA or
99mTcMAG3 helps to identify functioning renal tissue. However, stasis due to
ureteral dilation and tortuosity may preclude any diagnosis of obstruction with lasix
washout renography (Figure 7). Renography can be obtained after 4 weeks to allow
for changes during neonatal physiology.
MANAGEMENT
Spectrum of PBS
Since there is a wide spectrum of presenting characteristics in patients with PBS three
major categories of presentation in the neonatal period was described by Woodard.107
Though there is no clear delineation among the categories, this classification helps
planning the evaluation and management of the neonate.
Category 1 The renal dysplasia or urethral obstruction secondary to atresia results in
marked oligohydramnios. This in turn results in severe pulmonary hypoplasia. A
constellation of other system involvement may be present. The pulmonary hypoplasia
or renal failure commonly results in death in the neonatal period. Since these neonates
have other life threatening issues, only limited urological intervention is indicated,
often it is limited to bladder catheterization.
Category 2 They have varying degree of renal insufficiency, upper tract dilatation
and vesicoureteral reflux. As they seldom have life threatening early neonatal
pulmonary or renal insufficiency, the evaluation and management of the urinary tract
assumes importance. They require an individualized approach due to varying degrees
of presentation. Specific treatment of the dilated urinary tract in this group has
remained controversial for the past 25 years.108, 109 There is an overlap between the
clinical features of Category II and Category III patients and differing proportions of
these are included in reported series. In addition, the long term follow up is limited.
Hence it is difficult to compare the results of various series that advocate either
aggressive surgical management or a conservative approach. Patients in category 2

require an individualized approach due to varying degrees of presentation. Since

infection and progressive renal insufficiency is the major cause of morbidity and
mortality in this group, aggressive surgical therapies were performed and as a result,
anatomical and functional improvement was noted.84,108,110 Improved renal
outcome and decrease in urinary tract infections was documented with ureteral
tailoring, shortening and reimplantation, thus minimizing stasis and reflux.84,110
Others have advocated close observation of these patients with monitoring for urinary
tract infection and surgical intervention for those with urinary tract obstruction or
ongoing bacterial infection.109 Woodhouse et al, in a series of 47 cases, had 13
neonates who presented with infection and gross urinary tract dilatation. High
diversion was carried out in twelve. Further upper tract reconstruction was attempted
in six of these but normal micturition and stable renal function were achieved only in
three.111 However, due to the wide variation of presenting characteristics in this
patient population and the limited published data, no outright recommendation can be
made regarding patients who fall into this category. The treatment plan should be
tailor made depending upon the co-morbidities, renal function, infections, overall
clinical picture and the preferences of the family.112
Category 3 This group comprises children with incomplete or a mild triad of
features, mild to moderate uropathy, no renal dysplasia, stable renal function and no
pulmonary hypoplasia. Their renal function is usually preserved. They require regular
monitoring with ultrasound and creatinine. Unless there is worsening of the renal
function or recurrent UTI, they do not require any surgery of the urinary tract. In the
absence of indication for urinary tract reconstruction, bilateral orchiopexy is carried
out in infancy. Any deterioration in renal function or new urinary tract infection
requires further evaluation. Urodynamics may be required to assess the bladder and
adequacy of voiding.58
Surgical Treatment
Urinary Diversion Urinary diversion may be required during initial management, in
view of urosepsis, urinary tract obstruction or worsening renal function. If voiding is
inefficient because of urethral stricture, valves or atresia, urinary diversion will be
required. In neonates with bladder outflow obstruction, the urachus is patent but since
it closes in the first few weeks of life, drainage through urachus is unpredictable.
Vesicostomy When indicated, cutaneous vesicostomy is a quick and efficient method
to divert the urine at the level of the bladder and Blocksoms technique is commonly
employed. It is important to construct the stoma using the dome of the bladder. Since
the bladder is large and floppy, if the cystotomy is made lower down in the anterior
bladder wall it is prone to prolapse and obstruction. A larger stoma is recommended in
PBS since stomal stenosis is common. A patent urachus or a large diverticulum at the

urachus are encountered frequently. If present, the diverticulum or patent urachus may
be excised at the time of vesicostomy.
Supravesical Diversion In the majority of cases, vesicostomy is adequate for
effective decompression of the urinary system. In the setting of massive reflux, a
single loop ureterostomy may allow for adequate decompression of both kidneys
while simultaneously allowing for normal bladder cycling. However, in the setting of
obstruction at the ureterovesical or ureteropelvic junction, proximal urinary diversion
is recommended. If ureterovesical reconstruction is anticipated, it is preferable to
avoid a high loop ureterostomy, since the upper ureter is utilized for the reconstruction
and the vascularity of this segment may be compromised by the loop
ureterostomy.56,113 A low loop ureterostomy may adequately decompress both the
ipsilateral kidney as well as the bladder without endangering later reconstruction. End
cutaneous ureterostomy may be considered if upper ureteric obstruction is not
suspected. In addition to relieving obstruction, the upper ureteric anatomy is not
disturbed and there is a decrease in the caliber of the severely dilated ureter, which is
desirable for future reconstruction.113 Another alternative for upper tract drainage is
cutaneous pyelostomy. Infants requiring temporary diversion requiring a complete
reconstruction planned at a later date may benefit from initial pyelostomy followed by
bilateral tapered ureteroneocystostomy, reduction cystoplasty, bilateral orchiopexy and
abdominoplasty once they are optimized.114 Since total reconstruction however has
little role in the modern management of prune belly syndrome, rarely will
pyelostomies be indicated. Temporary percutaneous nephrostomy drainage is a safer
option for temporary diversion in an infant who is acidotic and septic, unfit for
anesthesia.
Reconstruction
Reconstruction pertinent to urogenital system may be classified as orchidopexy,
abdominoplasty and urinary tract reconstruction. Undescended testes are a hallmark of
Prune Belly Syndrome and there is universal agreement regarding the need for
orchidopexy. The abdominal wall defect may range from mild divergence of the rectus
muscles to severe deficiency of the abdominal wall and decision for abdominoplasty
depends largely on the extent of deformity and desired cosmesis. Recently,
improvement in bladder emptying is an additional consideration to offer
abdominoplasty in full blown PBS.115 True obstructive uropathy, recurrent urinary
tract infections and chronic renal insufficiency in anticipation of renal replacement
therapy are relative indications for surgical intervention. It is unclear if correction of
high grade reflux and/or restoration of normal caliber and capacity of urinary tract
have any effect on minimizing renal deterioration or reducing the risk for infections
and there is considerable controversy regarding the indications and timing of urinary
tract reconstruction. In order to improve detrusor function, reduction cystoplasty was

suggested116 but it did not seem to decrease bladder capacity or improve voiding
dynamics in the long-term.117 As there are no definite criteria to assign the category
and classification and as the natural history is variable, it is difficult to compare the
outcomes of different series.
Urethra The spectrum of urethral abnormalities includes urethral atresia or
microurethra, megalourethra or obstruction at the prostato-membranous urethra.
Successive urethral dilation as described by Passerini-Glazel et al using the
P.A.D.U.A. technique has been suggested for urethral atresia but the results have not
been uniformly successful.61 If vesicostomy is present, a through and through
dilatation may be possible. Four out of six boys reported by Gonzalez et al required
some form of supravesical diversion after multiple unsuccessful attempts at
dilatation.118 Initial perineal flap urethrostomy followed by reconstruction may be
required.119
As previously mentioned, megalourethra may be either the fusiform or the scaphoid
type. The scaphoid megalourethra is more common. The technique was initially
described by Nesbit in 1955.After a circumcising incision and degloving of the penis
he performed a longitudinal reduction urethroplasty is performed over a catheter. This
technique is straightforward, avoids overlapping suture lines, and its principles remain
in wide use today.120 An alternate technique is urethral placation, as described by
Heaton and colleagues.121 Reconstruction may be technically challenging in the
fusiform variant, since there is no surrounding spongiosum and the urethra is often
massively dilated. The options are limited, due to lack of periurethral tissue. The
phallus is usually greatly enlarged and can be more capacious than the native bladder.
Nevertheless, there have been reports of phallic reconstruction in these patients with
satisfactory cosmetic and functional outcomes.122 The rarity of the defect precludes
any generalizations with regard to surgical management; each case must be considered
individually.120
Since the prostatic urethra is hypoplastic, there is an abrupt change in caliber at the
prostatomembranous junction but true obstruction is rare. Occasionally prostatomembranous urethral obstruction, classified by Stephens as a type IV valve, is present.
It is caused by redundant tissue in the membranous urethra and can be incised
transurethrally.123 Woodhouse et al followed up 29 patients in Category III who were
well at birth, with stable renal function. When there was upper deterioration, the
obstruction was noted to be generally in the urethra, which was relieved
endoscopically either by resection of a narrow ring or by full length urethrotomy.111
In children with PBS with high post-void residuals, increasing hydroureteronephrosis
or VUR, internal urethrotomy may be considered though no long term success has
been demonstrated.124

Bladder Urodynamic evaluation of the bladder is indicated in the setting of urinary

tract infections and large residual volumes.58 Evidence of resistance at the
vesicourethral junction has been postulated to contribute to the large post void
residuals along with poor bladder contractility and high grade vesicoureteral reflux.
In children who are unable to maintain low residual volumes some authors have
proposed internal urethrotomy to lower the sphincter resistance and allow for
improved emptying of the bladder. 58, 109 Additionally, clean intermittent
catheterizations can facilitate improved bladder emptying.59
Reduction Cystoplasty Poor bladder function along with large capacity and massive
vesicoureteral reflux can lead to decreased bladder emptying. In order to enhance
bladder emptying, Perlmutter initially proposed reduction cystoplasty as a means to
reconstruct the shape of the bladder to a more spherical appearance.116 However the
bladder volume returned to baseline or increased when compared to pre-reduction
cystoplasty volumes in long term follow up.117 No difference is noted on
urodynamics to patients with reconstruction versus those without.59 Hence reduction
cystoplasty is reserved for removal of a dilated urachal segment which may be seen
with urethral abnormalities, or to excise a large urachal diverticulum.
Upper Urinary Tract
Ureteral Reconstruction Vesicoureteral reflux occurs in approximately 70% of PBS
children. Conservative approach in these patients consists of antibiotic prophylaxis
and serial monitoring of renal function with goals to maintain renal function and
avoiding any ureteral surgery.113 Initial proximal diversion with later reconstruction
was noted to yield results that are equally successful and comparable with primary
reconstructive surgery carried out in early infancy or later childhood.115 In the
setting of recurrent pyelonephritis or progressive renal decline, ureteric tailoring,
straightening and reimplantation after excising the redundant dilated lower ureter, is
recommended. Ureteral tapering and reimplantation can be performed using
plications or an excisional with equal success.106 Submucosal tunneling may be
challenging if plications are performed due to the bulk of the resultant ureter.
Occasionally the redundant tortuous distal ureter can be excised with standard
reimplantation of a more normal sized proximal ureter.
Orchidopexy Undescended testicles are one of the hallmarks of this syndrome. The
timing of orchidopexy depends on fitness for anesthesia and need for concomitant
abdominoplasty or urinary tract reconstruction. Since the endocrine function is
preserved and there is a malignant potential, earlier orchidopexy is desirable. Most of
these testes are intra-abdominal, high in the posterior pelvic wall overlying the iliac
vessels, and hence spontaneous descent is unlikely. Standard orchidopexy, without
division of the testicular vessels may be more successful if the orchidopexy is done
during early infancy.125 Since the testes are located in the abdomen at the level of

the iliac vessels, adequate proximal mobilization is difficult with the standard inguinal
approach and trans-abdominal approach is preferred. If concomitant urinary
reconstruction or abdominoplasty is being performed, the vessels can be mobilized till
the origin to ensure adequate mobilization for single stage orchidopexy. The primary
objective of orchiopexy is to preserve the hormonal function and to enable easy
examination, since malignant potential has been documented.66 In addition, though
the fertility potential is compromised, assisted reproductive techniques may be
possible. There is a single report of mature spermatozoa in the post-coital urine in a
patient who underwent neonatal orchidopexy.115 Testosterone levels were found to be
higher in boys who underwent orchidopexy in early infancy compared to those who
had staged or Fowler-Stephens orchidopexy at an older age. Hence orchidopexy as
early as six months has been recommended.115 If no additional urological procedure
is indicated and abdominoplasty is not planned, laparoscopic orchidopexy is an option
to be considered. Dissection may be carried out till the origin of the testicular vessels,
thus facilitating single stage orchidopexy. The altered anatomy of these children
presents an unusual landscape to the laparoscopic procedure. Since the ureter and the
kidneys are often grossly dilated, care must be exercised during dissection.126
Laparoscopic Fowler-Stephens technique is executed either as a one stage or staged
approach with reasonable success when a single stage orchidopexy is not
possible.126,127 Microvascular autotransplantation is an alternative for high intraabdominal testes that cannot be brought down to the scrotum despite adequate
mobilization.128
Long-term Follow-up of Orchidopexy Normal erections and orgasm was
experienced by 9 patients between 16 and 28 years of age who underwent
orchidopexies in late childhood or adolescence. Seven of these had retrograde
ejaculation. Two of these were anorchic and of the remaining seven, six had normal
testosterone levels. Though infertile, these men were sexually active.70 Orchidopexy
can be performed using either an open or laparoscopic approach if completed within
the first few years of life. Often, the testicles can be brought down to the scrotum
without a Fowler-Stephens approach.110 Patil and colleagues reviewed the outcome
of orchidopexy in 41 boys 20 underwent bilateral 1-stage orchidopexy, 10 with
unilateral 1-stage and contralateral 2-stage orchidopexy, and 11 underwent. Except for
two who underwent bilateral single stage orchidopexy, others had satisfactory
outcome sufficient to induce puberty and maintain sexual function. Division of
gonadal vessels did not seem to adversely affect the outcome.127 In a series of 32
boys with PBS who underwent bilateral orchidopexy, 26 did not require ligation of
testicular arteries. Unilateral and bilateral ligation of pedicles was performed in 2 and
4, respectively. Five testes had atrophied, for which three underwent ligation of the
artery.112

Abdominal Wall Reconstruction Similar to the urinary tract, the spectrum of

abdominal wall defect extends from mild protuberance to severe laxity and bulge. In
those with minimal deficiency, there may be improvement as they grow up and no
intervention may be required. However, most children with PBS of Category II have
significant abdominal wall defect. The abdominal wall defect may not have life
threatening consequences but the inefficient contraction of the abdominal wall
muscles is believed to affect bladder, bowel, and pulmonary function.129
Consequently, abdominal wall repair might improve coughing and defecation, though
there is no evidence for the same.115 If concomitant urinary tract reconstruction is
anticipated, it is prudent to wait till a clear picture of the urinary tract and voiding
function is obtained and the reconstruction is planned. If no urinary tract
reconstruction is anticipated, it may be combined with orchiopexy during infancy.
Abdominoplasty along with orchidopexy at 6 months enables adequate mobilization
of the testes. Since these infants have underlying pulmonary hypoplasia101 and the
breathing may be further compromised by abdominoplasty, the benefit in terms of
successful orchidopexy and reconstruction should be weighed against the anesthetic
risk, since mortality due to pulmonary issues have been documented following
neonatal reconstruction.115
Randolph Technique Randolph et al 130 initially described abdominal wall
reconstruction based on electromyography data. EMG mapping indicated that the
most severely affected area is the infraumbilical region. Hence they recommended a
transverse incision from the tip of the 12th rib over the anterior superior iliac spine
down to the pubic symphysis and back up to the contralateral anterior superior iliac
spine and tip of the 12th rib. A parallel incision is made with the excess skin pulled
taut. Full thickness removal of the skin, underlying muscle and peritoneum was
performed. Full thickness reapproximation of the healthy inferior margin of the
fascia, including the periosteum is performed at the anterior superior iliac spines and
pubic symphysis using non-absorbable suture. The fascia is closed using interrupted
suture followed b skin reapproximation. One series of 16 patients noted in 7 patients
laterally bulging of the abdominal wall.106
Ehrlich Technique Ehrlich first described his methodology in 1986 and later
modified it in 1993.131, 132 The technique involves a vertical incision with
preservation of the umbilicus. There is extensive mobilization of the lateral muscular
layer from the overlying skin and subcutaneous tissue, followed by a vest over pants
closure. This closure brings the unaffected lateral musculofascial layer into the
midline and allows for removal of excess skin and preservation of the umbilicus.
Monfort Technique The Monfort technique (Figure 8) also utilizes a vertical
incision.133 Using an elliptical incision from the xiphoid to the pubic symphsis and a
second incision around the umbilicus for preservation, the underlying subcutaneous

layers are dissected off the fasica laterally to the anterior axillary line. A vertical
incision is made lateral to the superficial epigastric arteries. The posterior parietal
peritoneum is incised. The central island muscle flap is secured to the posterior
parietal peritoneum. The mobilized lateral muscle flaps are brought over the central
muscle flap and reapproximated in midline, similar to a vest over pants technique.
This technique increases the anterior abdominal wall thickness, creates a waistline and
reduces any bulge. Other authors have reported satisfactory results with good patient
satisfaction using this technique. 134 Since the periumbilical skin in the midline is not
excised in the Montfort technique, the umbilicus often appears too high after the
repair. A neo-umbilical reconstruction along with Montfort abdominoplasty has been
suggested.135 An almond shaped skin island is preserved at the level of the iliac crest
in the midline, attached to the dermis. This is invaginated by placing absorbable
sutures from underneath the fascia. Another modification to this technique has been
described by Furness et al.136 In this approach, the peritoneal cavity is not entered
and the abdominal wall dissection is minimal. If orchidopexy has been performed
earlier, this technique is useful to avoid entry into the peritoneal cavity.
Firlit Technique In this technique, the laxity of the abdominal wall is assessed by
grasping the midline with towel clips and lifting the abdominal wall till it is taut. An
elliptical skin incision is then made around the base of the redundant skin from the
xyphoid to the pubis preserving an island of the umbilical skin. The excess skin is
excised and the fascial plate laxity is corrected with a plicating technique with full
thickness vertical folds. The peritoneal cavity is note entered. Hence this procedure is
an option if no concomitant intraperitoneal procedures are required. Authors have
reported satisfactory outcome in 13 patients who underwent the procedure.136
Laparoscopic Assisted Abdominal Wall Reconstruction Laparoscopic-assisted
repair has been described to minimize violation of the peritoneal cavity.137
Peritoneal cavity was visualized using a telescope introduced through a 5 mm subxiphoid trocar, while vertical abdominal wall plication of the fascia was done by Firlit
technique.136 In addition to visualization of the viscera when the deep plicating
sutures are taken, the pneumoperitoneum gives the surgeon a representative idea of
what the reconstructed abdomen is going to look like when the patient is erect, thus
enabling optimal abdominal wall reduction.
Outcome of Abdominoplasty Smith et all evaluated the voiding changes in twelve
patients who underwent Monfort abdominoplasty. Subjective changes that occurred
after abdominoplasty included resolution of or less double voiding in 9 patients,
improved urinary continence in 7, improved bladder fullness sensation in 11,
improved urinary flow in 10 and improved defecation in 5. They also noted that
incidence of urinary tract infections decreased from a preoperative average of 5.7 per
patient per year to 1.2 per patient per year postoperatively. In addition, post-void

residual volumes significantly decreased from a preoperative average of 40% of

bladder capacity to 13% after abdominoplasty even in those who did not undergo
concomitant urinary reconstruction suggesting the influence of abdominoplasty on
improved micturition.129 In the series by Denes et al, the flaccidity improved in 29
out of 30 patients who underwent comprehensive repair. Abdominoplasty improved
not only the corporal image and self-esteem, but also abdominal strength, with good
results in 93.5% of the patients. Upright body posture also improved in most patients.
Although it is difficult to evaluate the cosmetic improvement objectively, this was
substantiated by patient and parental satisfaction.112
Renal Transplantation Deteriorating renal function from renal dysplasia, recurrent
pyelonephritis or reflux nephropathy are the reasons for renal replacement therapy.
The incidence of renal transplantation in PBS patients is about 30%. 71 Graft survival
after renal transplantation in PBS is similar to age matched controls, with graft
survival of 75% versus 69% in controls. 138 Compared with age matched controls 10
years post transplant, improved survival of the renal graft was associated with pretransplant urinary reconstruction to reduce the chance of urinary stasis and infection,
as well as maintaining low post void residuals with timed voiding or clean intermittent
catheterizations. 139 Most transplants have been carried out without139 prior
abdominoplasty. When large urinary residue and UTI was encountered following
transplantation, voiding efficiency and urinary infection improved following
abdominoplasty.140 Torsion of the graft is a potential complication in PBS possibly
due to lack of abdominal wall tone resulting in graft mobility.141 Prior
abdominoplasty or nephropexy during transplantation have been recommended to
avoid torsion.
Long-term Outlook
Because of the rarity of prune belly syndrome, most of the described literature is
based on case series. Outcome of neonates of Category I, born with pulmonary
dysplasia continues to be poor. In-hospital mortality of new-born patients with PBS
dying during their initial hospital stay is 31%.Prematurity and pulmonary disorders
were highly associated with in hospital mortality.10 With better neonatal care and
efficient management of the urinary tract, survival has improved over the years. With
individualized treatment plan and care, the overall outlook for the PBS patient, both
for survival and for quality of care, has improved considerably, largely through
advancements in neonatal care, surgical techniques and diagnostic evaluation. Though
aggressive surgical approach may not be required in all patients, meticulous follow up
and active management of pyelonephritis and urinary tract obstruction are essential. A
third of those with impaired renal function at initial evaluation develop chronic renal
insufficiency during childhood or adolescence. Outcome of renal transplantation
seems comparable to age matched non-PBS patients. Bladder dynamics and voiding

pattern also may change over time. Hence, long-term follow-up is essential to ensure
near-normal quality of life for patients with prune belly syndrome.
Figure Legends
Figure 1: Lax abdominal wall seen in Prune Belly Syndrone

Figure 2: Renal Ultrasonogram of newborn with PBS with marked

hydroureteronephrosis (Fig 2 A: Left kidney; Fig 2B: Right kidney)

Figure 3: VCUG demonstrating bilateral vesicoureteral reflux with dilated ureters

Figure 4: Ultrasonogram of the bladder demonstrating thickened bladder wall

Figure 5: Hypoplastic prostate with dilated prostatic urethra

Figure 6: Cystogram demonstrating large bladder in a girl with PBS

Figure 7: MAG 2 renogram in a boy with PBS, poorly functioning right kidney,
dilated left collecting system and stasis of tracer.

Figure 8 A: Incision marked for Montfort abdominoplasty. Skin island for

neoumbilicus is also marked.

Figure 8 B: Skin flap has been raised preserving the vascularity to the skin islands for
the neoumbilicus.

Figure 8 C: Scoring the peritoneum with diathermy,

Figure 8 D: Securing the central island muscle flap to the posterior parietal

peritoneum

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J CHANDRA SINGH, MD
Division of Pediatric Urology
Nationwide Childrens Hospital
Columbus, OH 43205.
chandra.singh@nationwidechildrens.org
VENKATA RAMA JAYANTHI, MD*
Division of Pediatric Urology
Nationwide Childrens Hospital
Columbus, OH 43205
rama.jayanthi@nationwidechildrens.org
*Corresponding Author
Acknowledgement: We thank Dr. Brian VanderBrink for the operative photographs.

Overview
Prune belly syndrome typically occurs in boys with a thin or lax abdominal wall; such laxity is variable in
severity. The prostatic urethra is long and dilated as a result of prostatic hypoplasia. Some patients have a
utricle diverticulum from the urethra; a large, vertically oriented, thick-walled bladder; a urachal remnant from
the dome of the bladder; and tortuous and dilated ureters. Varying amounts of hydronephrosis and varying
degrees of renal dysplasia are seen. All have cryptorchidism.
The amniotic fluid volume may be normal or decreased in neonates with prune belly syndrome. The presence
of oligohydramnios may account for some of the accompanying findings of the extremities. [1, 2, 3] See the images
below.

The abdomen of an infant with prune belly

syndrome shows marked distention of the abdomen and bulging flanks secondary to a large urinary system and the absence
of abdominal wall musculature.

Ultrasound examination of the kidneys shows

bilateral hyperechoic kidneys with poor development of the calyces and dilated tortuous ureters.

On CT, the ureter in this patient with prune belly

syndrome fills the entire abdomen.

The etiology of prune belly syndrome is not fully understood. The thinness of the abdominal wall has been
attributed to hydronephrosis. The distended urinary system is thought to interfere with the normal descent of
the testes. However, some patients with severe hydronephrosis do not have the same disorder of the
abdominal wall. Cryptorchidism usually is not seen in patients with distended bladders of other etiology.[4, 5]
Prune belly syndrome is a rare anomaly seen in 1 in 35,000-50,000 live births. The genetic origins remain
unclear.[6, 7, 8]

Preferred examination
To confirm prune belly syndrome, radiography is used to evaluate the abdomen and chest initially. For urinary
tract evaluation, renal US and voiding cystourethrography are performed. For fragile neonates and for infants
with severe reflux and retention, these simple diagnostic studies may be much more threatening than they are

for the normal baby. The use of prophylactic antibiotics and the need to act upon the study results should be
weighed before proceeding indiscriminately.
Some diagnosticians assess renal function by performing a technetium-99m ( 99mTc) dimethylsuccinic acid
(DMSA) renal scan. DMSA is a cortical agent; DMSA renal scans provide information about both the
appearance and function of the kidneys.

Radiographic findings in prune belly syndrome are as follows:

Chest: Hypoplastic lungs, flaring of the lower ribs secondary to the distended abdomen is seen (see
image below).

Note the small lung volumes and constriction

of the upper thorax. Flaring of the lower ribs secondary to distention of the abdomen is seen. Infants with prune belly
syndrome may develop severe respiratory distress secondary to the thoracic limitation.

Abdomen: Diffusely distended flanks are seen. Masslike areas in the abdomen represent a
hydronephrotic urinary tract (see image below).

The abdomen of an infant with prune belly

syndrome shows marked distention of the abdomen and bulging flanks secondary to a large urinary system and the
absence of abdominal wall musculature.

Kidneys: Dilated, clubbed, and dysplastic calyces are seen. Renal parenchyma often is hyperechoic on
US, which shows poor development and differentiation of the calyces. Often, small cysts are seen in the
subcapsular cortex.
Ureters: Ureters are markedly dilated and tortuous, with involvement more severe distally. Usually,
refluxing ureters are seen (see image below).

Infants with prune belly syndrome show early and marked

bilateral vesicoureteral reflux. Significantly more dilatation of the lower ureters exists.

Bladder: The bladder is vertical and trabeculated, with a urachal remnant at the dome. The base of the
bladder is triangular, with a relaxed internal sphincter (see image below).

A characteristic bladder in prune belly

syndrome with vertical orientation, wide trigone, and a urachal remnant. The urethra shows elongation of the posterior
urethra with a triangular deformity of the prostatic urethra related to the absent posterior lobe of the prostate.

Urethra: A wide, long posterior urethra is seen, along with a utricular remnant. The posterior urethra
may be triangular in appearance as a result of the absence of the posterior lobe of the prostate. Corporal
absence may result in megalourethra of the anterior urethra, giving it a fusiform appearance (see image
below).

Typical urethra of prune belly syndrome

Cryptorchidism: The testes are in the abdomen or inguinal canals. Often, the testes appear
hypoplastic, although they may be of normal size.
For those who have access to nuclear radiology, a scan using a cortical agent such as 99m Tc DMSA is useful in
assessing renal function. Radiopharmaceuticals that are excreted by tubular secretion such as 99m Tc
mercaptoacetyltriglycerine (MAG-3) or glomerular filtration such as diethylenetriamine pentaacetic acid (DTPA)
may be helpful in visualizing the kidneys and collecting systems.

Degree of confidence
The radiographic appearance is virtually always characteristic of prune belly syndrome.

Computed Tomography
Findings of prune belly syndrome on CT include a broad flabby-appearing abdomen, absence of the
musculature of the abdomen, hydronephrosis, and tortuous dilated ureters and bladder.[9]
See the image below.

On CT, the ureter in this patient with prune belly

syndrome fills the entire abdomen.

Ultrasonography
Sonography of the kidneys shows diffusely hyperechoic parenchyma, small parenchymal cysts, clubbed
dysplastic calyces, and markedly tortuous ureters; these findings are sufficient to make the diagnosis of prune
belly syndrome. The increased echogenicity of the parenchyma is an indicator of underlying dysplasia of the
renal tissue during early differentiation and maturation. The bladder is usually large and thick-walled. Angled
outlet views may show the dilated prostatic urethra, which is difficult to differentiate from posterior urethral
valves by sonography alone[10, 11, 12, 13, 14]

See the images below.

Ultrasound examination of the kidneys shows

bilateral hyperechoic kidneys with poor development of the calyces and dilated tortuous ureters.

High-detail sonogram of an involved kidney

shows a hyperechoic cortex, a dysplastic collecting system, and cortical cysts.

In prune belly syndrome, an abdominal

sonogram usually shows dilated ureters filling the entire abdomen.

Note the dilated and hypotonic ureters filling the

abdomen in an infant with prune belly syndrome.

Degree of confidence
On US, prune belly syndrome has a characteristic appearance.
Although a firm diagnosis may usually be made on the basis of the combination of the clinical examination and
US findings, in cases in which abdominal thinning is mild, the diagnosis may be less certain. In such cases, a
voiding cystourethrogram may reveal the characteristic urethral appearance.

False positives/negatives
The diagnosis of prune belly syndrome is made in utero using ultrasound (US). In the neonate, the diagnosis is
made on the basis of characteristic clinical findings. The diagnosis should be suspected in the fetus when US
imaging reveals a characteristic enlarged bladder, dilated ureters, and an abnormal abdominal wall. However,

the same constellation of US findings can signal posterior urethral valves with severe hydroureteronephrosis;
thus, as a cautionary measure, the diagnosis should not be declared with certainty for either condition.
Megacystis-microcolon syndrome may have an appearance that is almost identical to that of prune belly
syndrome; however, in megacystis-microcolon syndrome, the bladder is smoother and larger than in prune
belly syndrome. Megacystis-microcolon syndrome has a marked female preponderance.