KELAINAN KONGENITAL PD ANAKprint
KELAINAN KONGENITAL PD ANAKprint
PADA ANAK
Dr.GUSTINA LUBIS Sp.A(K)
DEFINISI
• Kelainan Bawaan (Kelainan Kongenital) adalah
suatu kelainan pada struktur, fungsi maupun
metabolisme tubuh yang ditemukan pada bayi
ketika dia dilahirkan.
5. Clubfoot
9. Sindroma Down
10. Fenilketonuria
11. Sindroma X yang rapuh
Sindroma ini ditandai dengan gangguan mental, mulai dari
ketidakmampuan belajar sampai keterbelakangan mental,
perilaku autis dan gangguan pemusatan perhatian serta
hiperaktivitas.
Gambaran fisiknya khas, yaitu wajahnya panjang, telinganya
lebar, kakinya datar dan persendiannya sangat lentur (terutama
sendi pada jari tangan).
Sindroma ini lebih banyak ditemukan pada anak laki-laki.
12. Distrofi otot
Anemia sel sabit
13. Penyakit Tay-Sachs
14. Sindroma alkohol pada janin
Contoh Kelainan Kongenital pd
Anak
• Inborn Errors of Metabolism
Point defects in metabolism
5
Membrane
1 2
Aoutside Ainside B C
Holoenzyme
4
3
Apoenzyme
D + cofactor
E F
6
Lysosomal storage disorders
• Mucopolysaccharidosis
• Oligosaccharidosis
• Sphingolipidosis : NPD type 1
• Mucolipidosis
• Lipid storage diseases: NPD type 2
• GSD type II (Pompe Disease)
• Lysosomal transport defect
Cell & Lysosomes
Lysosomal Storage Diseases:
Clinical features
Changes in the facial
appearance bone
deformities and
joint stiffness
loss of skills, such
as speech and
learning
behaviour problems,
and mental
retardation
Lysosomal storage diseases
(Niemann-Pick Type I)
• Hepatosplenomegaly
• Facial dysmorphism
• Short stature & FTT
• Psychomotor retardation
• Pancytopenia, hyperlipidemia
• CXR: mottled pattern
• BMP: Foam cells (+)
• Liver biopsy : glycogen (+)
• Clinical diagnosis : NP type I
• ASM 0.65 (N:20-100 pmol/min/mg
protein)(Adelaide, Australia)
Lysosomal storage diseases
(MPS Type IV = Morquio)
• Short stature
• Dorsolumbar kyphosis
• Dysmorphic features
• Urine GAG : normal
Lysosomal storage disease
(Mucopolysaccharidosis VII = Sly disease)
• Coarse facies, hepatomegaly
• Dysostosis multiplex (scoliosis)
• Cloudy cornea
• Mental retardation
• Consanguineous parents
• BMP : granular neutrophyl
• Clinical diagnosis : MPS type I or
VII
• ß-glucuronidase: 2.5 mol/L
blood/h (N : 93-226 mol/L
blood/h (via Dr M Duran-
Amsterdam)
Glycogen storage disease type IX
• Hepatosplenomegaly
• Short stature
• “doll-face”
• Hyperlipidemia, hyperuricemia,
normal CK
• Clinical diagnosis : GSD type VI
or IV
• Erythrocytes phosphorylase
kinase : 2.4 (N 8-19 nmol/h/mg
Hb) (Rotterdam, The
Netherlands)
Familial hypercholesterolemia
• A 21-months old boy, mild
malnutrition
• Xanthoma planar & tuberous Xanthoma planar
since 7 months old
• Lipid analysis
– TG 111 mg/dL (N)
– Total cholesterol
402 mg/dL ()
– LDL-C 293 mg/dL () Xanthoma tuberous
– HDL-C 61 mg/dL (N)
• Echocardiography:
atherosclerosis carotis
• Both parents are
hypercholesterolemia
Zellweger syndrome
• Disorders of peroxisome biogenesis
• Neonatal period: severe hypotonia, areactivity,
seizures, cataract, liver dysfunction,
dysmorphic & skeletal abnormalities, FTT
• Deficiencies in multiple peroxisomal enzymes
Organic aciduria
(methyl malonic aciduria)
• 3 days old newborn girl seizures, coma
• metabolic acidosis, hyperammonemia, anion gap ,
ketonuria(-)
• History :
– 1st baby boy † 3 days
– 2nd baby boy reccurent coma † 8 month
• Clinical diagnosis : organic acidemia (MMA ?)
• Dry Urine Sample : methyl-malonic aciduria defect of
methyl malonyl Co-A mutase activity (Lab
Metabolic-AMC-Amsterdam, The Netherlands)
• Prenatal diagnosis or Immediate Newborn screening for
the Next Pregnancy !
HUNTER SYNDROME
Mucopolysaccharidosis type II
Introduction
• Hunter also called Mucopolysaccharidosis type II
• Cause by def. enzyme iduronate sulfatase
to break down glycosaminoglycans
SADAN
gamet/generasi
DAN LAIN-LAIN
AKONDROPLASIA
• Mudah dikenal
• Intelegensi & harapan hidup : normal
MASALAH
PERLU
• Komplikasi
PEMAHAMAN PENYAKIT
• Psikososial AGAR
• Genetik, dll TUMBUH KEMBANG
OPTIMAL
GAMBARAN KLINIK
• Perawakan pendek
• Rhizomelia
• Midfacial hypoplasia, frontal bossing
• Prominent foerhead
• Gibbus torakolumbal
• Megalencepahly, contracted skull base
• Penyempitan ruang interpedikel
• Brachidactily, trident hand
DIAGNOSIS
• Anamnesis
– Riwayat tumbuh kembang
– Anamnesis komplikasi
– Otitis media, ketulian
– Gangguan tidur
– Deteksi keluarga berisiko
• Pemeriksaan fisik
– Antropometri & tanda2 khas
• Pencitraan
PENCITRAAN
• USG kepala usia; 2, 4 6 bulan
• USG jika
– fontanel melebar,
– lingkar kepala meningkat
– Gejala hidrocepalus
• CT scan
• MRI
Morbiditas / mortalitas
• Kematian mendadak (<3%)
• Angular deformitas ekstremitas
• Prematur degeneratif joint
• Kelainan spinal, cervical instability
• Obesitas
• Gangguan pernafasan (<5%)
• OMSK
• Arrested hidrocepalus
TATALAKSANA
• Pemantauan, tiap tahun ;
– Pertumbuhan, U/L ratio
– Berat badan
– Lingkar kepala
• Pemeriksaan neurologik berkala
• Atasi OMSK, pertumbuhan gigi crowded
• Kontrol obesitas
• Jika perlu tindakan bedah
• Konsultasi : bedah saraf, THT, genetik