Disorder Descriptions

D|sorder Descr|pt|ons
1he ulsorder uescrlpLlons conLaln messages abouL cerLaln condlLlons ldenLlfled Lhrough newborn
screenlng ulsorders plcked up vla Landem mass specLromeLry have been comblned lnLo Lhe followlng
Lhree caLegorles Amlno Acld ulsorders laLLy Acld CxldaLlon ulsorders and Crganlc Acld ulsorders lor
descrlpLlons of speclflc dlsorders ldenLlfled Lhrough Landem mass specLromeLry refer Lo our parenL facL
sheeLs
1o selecL a message for use cllck on Lhe approprlaLe caLegory hlghllghL Lhe message copy lL by presslng
CLrlC on your keyboard or selecLlng copy from Lhe LdlL menu pasLe lL lnLo your documenL by presslng
C#AAuLrlv on your keyboard or selecLlng pasLe from Lhe LdlL menu
lor more general newborn screenlng messages refer Lo our Message Llbrary
CaLegory
Amlno Acld ulsorders
laLLy Acld CxldaLlon ulsorders
Crganlc Acld ulsorders
8loLlnldase ueflclency
CongenlLal Adrenal Pyperplasla
CongenlLal PypoLhyroldlsm
CalacLosemla
Slckle Cell ulsease and CLher PemogloblnopaLhles
Am|no Ac|d D|sorders
Amlno acld dlsorders (AAs) are a group of rare lnherlLed condlLlons 1hey are caused by enzymes LhaL do
noL work properly
roLeln ls made up of smaller bulldlng blocks called amlno aclds A number of dlfferenL enzymes are
needed Lo process Lhese amlno aclds for use by Lhe body 8ecause of mlsslng or nonworklng enzymes
people wlLh amlno acld dlsorders cannoL process cerLaln amlno aclds 1hese amlno aclds along wlLh
oLher Loxlc subsLances Lhen bulld up ln Lhe body and cause problems
1he sympLoms and LreaLmenL vary beLween dlfferenL amlno acld dlsorders 1hey can also vary from
person Lo person wlLh Lhe same amlno acld dlsorder
Iatty Ac|d Cx|dat|on D|sorders
laLLy acld oxldaLlon dlsorders (lACus) are a group of rare lnherlLed condlLlons 1hey are caused by
enzymes LhaL do noL work properly
A number of enzymes are needed Lo break down faLs ln Lhe body (a process called faLLy acld oxldaLlon)
roblems wlLh any of Lhese enzymes can cause a faLLy acld oxldaLlon dlsorder eople wlLh lACus
cannoL properly break down faL from elLher Lhe food Lhey eaL or from faL sLored ln Lhelr bodles
1he sympLoms and LreaLmenL vary beLween dlfferenL lACus 1hey can also vary from person Lo person
wlLh Lhe same lACu
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Crgan|c Ac|d D|sorders
Crganlc acld dlsorders (CAs) are a group of rare lnherlLed condlLlons 1hey are caused by enzymes LhaL
do noL work properly A number of enzymes are needed Lo process proLeln from Lhe food we eaL for use
by Lhe body roblems wlLh one or more of Lhese enzymes can cause an organlc acld dlsorder
eople wlLh organlc acld dlsorders cannoL break down proLeln properly 1hls causes harmful subsLances
Lo bulld up ln Lhelr blood and urlne 1hese subsLances can affecL healLh growLh and learnlng
1he sympLoms and LreaLmenL vary beLween dlfferenL organlc acld dlsorders 1hey can also vary from
person Lo person wlLh Lhe same organlc acld dlsorder
8|ot|n|dase Def|c|ency
ln people wlLh bloLlnldase deflclency Lhe body ls unable Lo use a Lype of vlLamln called bloLln
Congen|ta| Adrena| nyperp|as|a
1he adrenal glands ln people wlLh congenlLal adrenal hyperplasla do noL work properly 1hese people
cannoL make normal amounLs of cerLaln hormones
Congen|ta| nypothyro|d|sm
ln people wlLh congenlLal hypoLhyroldlsm Lhe Lhyrold gland cannoL make enough Lhyrold hormone for
normal body and braln growLh
Ga|actosem|a
eople wlLh galacLosemla cannoL break down a sugar found ln mllk
S|ck|e Ce|| D|sease and Cther nemog|ob|nopath|es
Slckle cell dlsease or oLher hemogloblnopaLhles affecLs Lhe red blood cells and may cause anemla

Ior further exp|anat|ons
Ga|actosem|a
Def|n|t|on
CalacLosemla ls a condlLlon ln whlch Lhe body ls unable Lo use (meLabollze) Lhe slmple sugar galacLose
A|ternat|ve Names
CalacLose1phosphaLe urldyl Lransferase deflclency CalacLoklnase deflclency CalacLose6phosphaLe
eplmerase deflclency
Causes
CalacLosemla ls an lnherlLed dlsorder 1hls means lL ls passed down Lhrough famllles
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lL occurs ln approxlmaLely 1 ouL of every 60000 blrLhs among Caucaslans 1he raLe ls dlfferenL for oLher
groups
1here are Lhree forms of Lhe dlsease
O CalacLose1 phosphaLe urldyl Lransferase deflclency (classlc galacLosemla Lhe mosL common
and mosL severe form)
O ueflclency of galacLose klnase
O ueflclency of galacLose6phosphaLe eplmerase
eople wlLh galacLosemla are unable Lo fully break down Lhe slmple sugar galacLose CalacLose makes
up half of lacLose Lhe sugar found ln mllk 1he oLher sugar ls glucose
lf an lnfanL wlLh galacLosemla ls glven mllk subsLances made from galacLose bulld up ln Lhe lnfanLs
sysLem 1hese subsLances damage Lhe llver braln kldneys and eyes
ersons wlLh galacLosemla cannoL LoleraLe any form of mllk (human or anlmal) 1hey musL be careful
abouL eaLlng oLher foods conLalnlng galacLose
Symptoms
lnfanLs wlLh galacLosemla can develop sympLoms ln Lhe flrsL few days of llfe lf Lhey eaL formula or breasL
mllk LhaL conLalns lacLose 1he sympLoms may be due Lo a serlous blood lnfecLlon wlLh Lhe bacLerla
coll
O Convulslons
O lrrlLablllLy
O LeLhargy
O oor feedlng (baby refuses Lo eaL formula conLalnlng mllk)
O oor welghL galn
O ellow skln and whlLes of Lhe eyes ([aundlce)
O vomlLlng
xams and 1ests
Slgns lnclude
O Amlno aclds ln Lhe urlne and/or blood plasma (amlnoacldurla)
O Lnlarged llver (hepaLomegaly)
O lluld ln Lhe abdomen (asclLes)
O Low blood sugar (hypoglycemla)
newborn screenlng ln many sLaLes wlll LesL for Lhls condlLlon
1esLs lnclude
O 8lood culLure for bacLerla lnfecLlon ( coll sepsls)
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O Lnzyme acLlvlLy ln Lhe red blood cells
O eLones ln Lhe urlne
O renaLal dlagnosls by dlrecLly measurlng Lhe enzyme galacLose1phosphaLe urldyl Lransferase
O 8educlng subsLances ln Lhe lnfanLs urlne and normal or low blood sugar whlle Lhe lnfanL ls
belng fed breasL mllk or a formula conLalnlng lacLose
1reatment
eople wlLh Lhls condlLlon musL avold all mllk mllkconLalnlng producLs (lncludlng dry mllk) and oLher
foods LhaL conLaln galacLose for llfe lL ls essenLlal Lo read producL labels and be an lnformed consumer
lnfanLs can be fed wlLh
O Soy formula
O MeaLbased formula or nuLramlgen (a proLeln hydrolysaLe formula)
O AnoLher lacLosefree formula
Calclum supplemenLs are recommended
Support Groups
arenLs of CalacLosemlc Chlldren lnc
wwwgalacLosemlaorg
Cut|ook (rognos|s)
eople who geL an early dlagnosls and sLrlcLly avold mllk producLs can llve a relaLlvely normal llfe
Powever mlld lnLellecLual lmpalrmenL may develop even ln people who avold galacLose
oss|b|e Comp||cat|ons
O CaLaracLs
O Clrrhosls of Lhe llver
O ueaLh (lf Lhere ls galacLose ln Lhe dleL)
O uelayed speech developmenL
O lrregular mensLrual perlods reduced funcLlon of ovarles leadlng Lo ovarlan fallure
O MenLal reLardaLlon
O Severe lnfecLlon wlLh bacLerla ( coll sepsls)
O 1remors and unconLrollable moLor funcLlons
Jhen to Contact a Med|ca| rofess|ona|
Call your healLh care provlder lf
O our lnfanL has a comblnaLlon of galacLosemla sympLoms
O ou have a famlly hlsLory of galacLosemla and are conslderlng havlng chlldren
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revent|on
lL ls helpful Lo know your famlly hlsLory lf you have a famlly hlsLory of galacLosemla and wanL Lo have
chlldren geneLlc counsellng wlll help you make declslons abouL pregnancy and prenaLal LesLlng Cnce
Lhe dlagnosls of galacLosemla ls made geneLlc counsellng ls recommended for oLher members of Lhe
famlly
Many sLaLes screen all newborns for galacLosemla lf parenLs learn LhaL Lhe LesL lndlcaLes posslble
galacLosemla Lhey should prompLly sLop glvlng Lhelr lnfanL mllk producLs and ask Lhelr healLh care
provlder abouL havlng a blood LesL done for galacLosemla
keferences
8erry C1 Segal S ClLzelmann 8 ulsorders of CalacLose MeLabollsm ln lernandes ! Saudubray !M van
den 8erghe C WalLer !P eds ot Metoollc ulseoses uloqosls o 1teotmet 4Lh ed new ork
n Sprlnger2006chap 7

Neonata| hypothyro|d|sm
Def|n|t|on
neonaLal hypoLhyroldlsm ls decreased Lhyrold hormone producLlon ln a newborn ln very rare cases no
Lhyrold hormone ls produced
lf Lhe baby was born wlLh Lhe condlLlon lL ls called congenlLal hypoLhyroldlsm lf lL develops soon afLer
blrLh lL ls referred Lo as hypoLhyroldlsm acqulred ln Lhe newborn perlod
A|ternat|ve Names
CreLlnlsm CongenlLal hypoLhyroldlsm PypoLhyroldlsm lnfanLs
Causes
PypoLhyroldlsm ln Lhe newborn may be caused by
O A mlsslng or abnormally developed Lhyrold gland
O lLulLary glands fallure Lo sLlmulaLe Lhe Lhyrold
O uefecLlve or abnormal formaLlon of Lhyrold hormones
lncompleLe developmenL of Lhe Lhyrold ls Lhe mosL common defecL and occurs ln abouL 1 ouL of every
3000 blrLhs Clrls are affecLed Lwlce as ofLen Lhan boys
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Symptoms
MosL affecLed lnfanLs have few or no sympLoms because Lhey only have a mlld decrease ln Lhyrold
hormone producLlon Powever lnfanLs wlLh severe hypoLhyroldlsm ofLen have a dlsLlncLlve appearance
SympLoms may lnclude
O uffyappearlng face
O uull look
O 1hlck proLrudlng Longue
1hls appearance usually develops as Lhe dlsease geLs worse 1he chlld may also have
O ury brlLLle halr
O Low halrllne
O !aundlce
O oor feedlng
O Choklng eplsodes
O Lack of muscle Lone (floppy lnfanL)
O ConsLlpaLlon
O Sleeplness
O Slugglshness
O ShorL sLaLure
xams and 1ests
A physlcal exam may reveal
O Abnormally large fonLanelles (sofL spoLs of Lhe skull)
O 8road hands wlLh shorL flngers
O uecreased muscle Lone
O CrowLh fallure
O Poarsesoundlng cry or volce
O ShorL arms and legs
O Wldely separaLed skull bones
8lood LesLs wlll be done Lo check Lhyrold funcLlon CLher LesLs LhaL may be done lnclude
O 1hyrold scan
O Oray of Lhe long bones
1reatment
Larly dlagnosls ls very lmporLanL MosL of Lhe effecLs of hypoLhyroldlsm are easlly reverslble
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8eplacemenL Lherapy wlLh Lhyroxlne ls Lhe sLandard LreaLmenL of hypoLhyroldlsm Cnce medlcaLlon
sLarLs Lhyrold blood LesLs are regularly done Lo make sure levels are wlLhln a normal range
Cut|ook (rognos|s)
very early dlagnosls generally resulLs ln a good ouLcome newborns dlagnosed and LreaLed ln Lhe flrsL
monLh or so generally develop normal lnLelllgence
unLreaLed mlld hypoLhyroldlsm can lead Lo severe menLal reLardaLlon and growLh reLardaLlon CrlLlcal
developmenL of Lhe nervous sysLem Lakes place ln Lhe flrsL few monLhs afLer blrLh 1hyrold hormone
deflclency may cause lrreverslble damage
O CrowLh reLardaLlon
O PearL problems
Call your healLh care provlder lf
O ou feel your lnfanL shows slgns or sympLoms of hypoLhyroldlsm
O ou are pregnanL and have been exposed Lo anLlLhyrold drugs or procedures
revent|on
lf a pregnanL women Lakes radloacLlve lodlne for Lhyrold cancer Lhe Lhyrold gland may be desLroyed ln
Lhe developlng feLus lnfanLs whose moLhers have Laken such medlclnes should be observed carefully
afLer blrLh for slgns of hypoLhyroldlsm
MosL sLaLes requlre a rouLlne screenlng LesL Lo check all newborns for hypoLhyroldlsm See also
newborn screenlng LesLs
keferences
Parrls 8 ass A lncrease ln congenlLal hypoLhyroldlsm ln new ork SLaLe and ln Lhe unlLed SLaLes
Mol Ceet Meto 2007 91(3)268277

8evlew uaLe 3/12/2009
8evlewed 8y 8oberL Cooper Mu Lndoclnology SpeclallsL and Chlef of Medlclne Polyoke Medlcal
CenLer AsslsLanL rofessor of Medlclne 1ufLs unlverslLy School of Medlclne 8osLon MA 8evlew
provlded by verlMed PealLhcare neLwork Also revlewed by Also revlewed by uavld Zleve Mu MPA
Medlcal ulrecLor AuAM lnc revlously revlewed by Alan Creene Mu lAA ueparLmenL of
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edlaLrlcs SLanford unlverslLy School of Medlclne Luclle ackard Chlldrens PosplLal Chlef Medlcal
Cfflcer AuAM lnc

AuAM lnc ls accredlLed by u8AC also known as Lhe Amerlcan AccredlLaLlon PealLhCare
Commlsslon (wwwuracorg) u8ACs accredlLaLlon program ls an lndependenL audlL Lo
verlfy LhaL AuAM follows rlgorous sLandards of quallLy and accounLablllLy AuAM ls
among Lhe flrsL Lo achleve Lhls lmporLanL dlsLlncLlon for onllne healLh lnformaLlon and
servlces Learn more abouL AuAMs edlLorlal pollcy edlLorlal process and prlvacy pollcy
AuAM ls also a foundlng member of PlLLhlcs and subscrlbes Lo Lhe prlnclples of Lhe
PealLh on Lhe neL loundaLlon (wwwhonch)
1he lnformaLlon provlded hereln should noL be used durlng any medlcal emergency or for Lhe dlagnosls
or LreaLmenL of any medlcal condlLlon A llcensed medlcal professlonal should be consulLed for dlagnosls
and LreaLmenL of any and all medlcal condlLlons Call 911 for all medlcal emergencles Llnks Lo oLher
slLes are provlded for lnformaLlon only Lhey do noL consLlLuLe endorsemenLs of Lhose oLher slLes
1997 2011 AuAM lnc Any dupllcaLlon or dlsLrlbuLlon of Lhe lnformaLlon conLalned hereln ls sLrlcLly
prohlblLed

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Cyst|c I|bros|s
D|sorder affects many body systems
lrom Mary ugler 8n former AbouLcom Culde
updaLed lebruary 13 2009
AbouLcom PealLhs ulsease and CondlLlon conLenL ls revlewed by our Medlcal 8evlew 8oard
See More AbouL
O geneLlc dlsorders
O lung dlseases

1he lungs are affecLed ln cysLlc flbrosls
9oto AuAM
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O CysLlc llbrosls
O 8aby lood
O CouL 1reaLmenL
O 1lnnlLus 1reaLmenL
O Skln 1reaLmenL

CysLlc flbrosls ls an lnherlLed geneLlc dlsease ln whlch Lhe body produces abnormally Lhlck sLlcky mucus
All Lhe parLs of Lhe body LhaL have mucousproduclng membranes are affecLed especlally Lhe
resplraLory and dlgesLlve sysLems
CysLlc flbrosls ls lnherlLed ln an auLosomal recesslve paLLern 1hls means LhaL a chlld musL lnherlL Lwo
coples of Lhe defecLlve gene one from each parenL Lo develop Lhe dlsease CysLlc flbrosls affecLs abouL
1 ln 4000 blrLhs for whlLe chlldren AfrlcanAmerlcans LaLlnos and Aslans also lnherlL Lhe dlsease buL aL
much lower raLes AbouL 30000 people ln Lhe unlLed SLaLes have cysLlc flbrosls
kesp|ratory Symptoms
1he resplraLory sysLem ls affecLed by cysLlc flbrosls 1he Lhlck mucus ln Lhe lungs and alrways causes
sympLoms such as
O coughlng
O wheezlng
O shorLness of breaLh wlLh exerclse
O repeaLed lung lnfecLlons such as pneumonla and bronchlLls
Cver Llme repeaLed lnfecLlons ln Lhe lungs causes Llssue damage and loss of lung funcLlon lL becomes
harder for Lhe person wlLh cysLlc flbrosls Lo breaLhe well
D|gest|ve Symptoms
1he Lhlck mucus caused by cysLlc flbrosls lnLerferes wlLh dlgesLlon so sympLoms lnclude
O a person can eaL a loL buL galn llLLle welghL
O bulky faLLy sLools because Lhe food passes Lhrough hardly dlgesLed
O poor nuLrlLlon because vlLamlns arenL absorbed well
D|agnos|s
CysLlc flbrosls ls usually dlagnosed ln chlldren before Lhey reach Lhelr flrsL blrLhday 1he dlsease causes a
hlgh amounL of salL ln Lhe sweaL so a MoLher klsslng her baby may noLlce Lhe babys skln LasLes salLy A
sweaL LesL (called pllocarplne lonLophoresls) ls Lhe sLandard LesL for cysLlc flbrosls lL ls slmple and
palnless and measures Lhe amounL of chlorlde ln Lhe sweaL A hlgh resulL lndlcaLes LhaL Lhe chlld has Lhe
dlsease
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A geneLlc LesL can be done Lo look for Lhe gene for cysLlc flbrosls CeneLlc LesLlng may be done lf Lhe
sweaL LesL resulLs are unclear
1reatment
1here ls no cure for cysLlc flbrosls so LreaLmenL focuses on managlng Lhe sympLoms 1reaLmenL
lncludes
O ually lung LreaLmenLs and medlcaLlons
O AnLlbloLlcs Lo LreaL lung lnfecLlons
O 1aklng vlLamlns and dlgesLlve enzymes Lo help absorb nuLrlenLs ln food
O Clvlng chlldren exLra calorles Lo help Lhem grow
:9:70#080,7.
1he defecLlve gene LhaL causes cysLlc flbrosls was ldenLlfled ln 1989 on chromosome 7 8esearchers are
experlmenLlng wlLh correcLlng Lhls gene ln 1993 a drug Lo Lhln mucus called ulmozyme (dornase alfa)
was lnLroduced and ln 1997 an lnhaled anLlbloLlc called 1obl (Lobramycln) was approved 8oLh have
helped reduce Lhe number of resplraLory lnfecLlons experlenced by people wlLh cysLlc flbrosls
In the 1950s, children with cystic Iibrosis did not live long. These days, aIIected children grow
up to adulthood and oIten live to their mid-30s and beyond. There are many national Ioundations
working to not only extend the lives oI people aIIected by cystic Iibrosis, but to actually cure the
disease and (best oI all) prevent it Irom occurring.
Source:

S|ck|e Ce|| Anem|a
Inher|ted b|ood d|sorder causes anem|a and pa|n
lrom Mary ugler 8n former AbouLcom Culde
updaLed !uly 27 2009
AbouLcom PealLhs ulsease and CondlLlon conLenL ls revlewed by our Medlcal 8evlew 8oard
See More AbouL
O blood cell dlsorders
O geneLlc dlsorders
O anemla
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Sickled red blood cells
-otlool stltotes of neolt
V_
Albinism in TanzaniaAlbino Murders, albinos tanzaniawww.underthesamesun.com
GUE/NGL at Durban COP17Climate Justice Now ! For a robust legally binding
dealwww.guengl.eu/cop17
Blood Clot TreatmentsA resource Ior physicians and patients about
thrombosis!www.Thrombosisadviser.com
kare D|seases Ads
O Slde LffecLs
O 8are CeneLlc ulsorder
O 8ody uysmorphlc ulsorder
O ulabeLes LffecLs on 8ody
O 8ody 1reaLmenLs
V_
Human NSC Expansion KitsProven and published STEMEZ Human Progenitors &
Neuronswww.neuromics.com
ataxia treatmentNeural stem cell transplantation works magic in our
hospital!www.nsccenter.com
Slckle cell anemla ls an lnherlLed blood dlsorder lLs maln sympLoms are longLerm (chronlc) anemla and
eplsodes of paln ln Lhe dlsorder hemoglobln molecules ln Lhe red blood cells whlch carry oxygen
LhroughouL Lhe body are defecLlve 1hese defecLlve molecules cause some of Lhe red blood cells Lo
change and form a slckle shape 1hese abnormallyshaped blood cells are Lhe source of Lhe anemla and
paln
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S|ck|e ce|| anem|a occurs wor|dw|de
Slckle cell anemla ls common among people whose ancesLors come from subSaharan Afrlca Spanlsh
speaklng reglons of Lhe world (SouLh Amerlca Cuba and CenLral Amerlca) Saudl Arabla lndla and
MedlLerranean counLrles such as 1urkey Slclly Creece and lLaly
Cnce LhoughL Lo be a rare dlsease research now shows LhaL ln Lhe unlLed SLaLes slckle cell anemla
occurs ln abouL 1 ln every 300 AfrlcanAmerlcan chlldren born and ln 1 ln every 900 Plspanlc Amerlcan
chlldren born
ass|ng on the gene to ch||dren
ApproxlmaLely 2 mllllon Amerlcans carry Lhe defecLlve gene for slckle cell anemla buL do noL Lhemselves
have Lhe dlsease Powever lf Lwo people wlLh Lhe defecLlve gene marry Lhere ls a one ln four chance
LhaL any chlld Lhey have would have slckle cell anemla
D|agnos|s
MosL sLaLes ln Lhe uS perform a slmple blood LesL on all bables born Lo deLecL slckle cell anemla lf Lhe
LesL shows Lhe abnormal hemoglobln ls presenL a second blood LesL ls done Lo conflrm Lhe dlagnosls
Symptoms
O a|n 1he slckleshaped red blood cells are sLlcky and have Lrouble passlng Lhrough small blood
vessels ln Lhe body 1he cells geL sLuck clump LogeLher and block Lhe flow of blood 8locklng off
Lhe blood causes paln 1hls ls called a slckle cell crlsls
O Anem|a 1he slckleshaped red blood cells dle qulckly 1here are Lhen noL enough red blood cells
Lo carry oxygen LhroughouL Lhe body 1he resulL ls faLlgue paleness and shorLness of breaLh
O De|ayed growth Anemla slows Lhe raLe of growLh because Lhe bodys cells donL geL Lhe oxygen
Lhey need Lo grow Chlldren and adulLs wlLh slckle cell anemla ofLen have a smaller bulld Lhan
oLher people of Lhe same age
O ye prob|ems 1he eye can be damaged by Lhe lack of oxygen lL can be serlous enough Lo cause
bllndness
O Infect|ons eople wlLh slckle cell anemla are more vulnerable Lo lnfecLlons because of damage
Lo Lhelr lmmune sysLems from Lhe dlsease
O Stroke lf Lhe blood flow Lo a parL of Lhe braln ls blocked by Lhe slckled cells a sLroke can occur
O Acute chest syndrome ChesL paln and fever caused by slckle cell anemla can become a llfe
LhreaLenlng compllcaLlon
1reatment
aln from slckle cell anemla ls LreaLed wlLh palnkllllng drugs and lnLravenous flulds MosL compllcaLlons
are LreaLed as Lhey occur 1he anLlcancer drug hydroxyurea can reduce Lhe frequency of palnful slckle
cell crlses and of acuLe chesL syndrome
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oung chlldren up Lo age 3 are ofLen glven oral penlclllln Lwlce a day Lo prevenL pneumonla 8lood
Lransfuslons can correcL anemla help prevenL sLrokes and LreaL spleen enlargemenL 1here are
however serlous slde effecLs Lo havlng frequenL Lransfuslons
8egular medlcal care ls lmporLanL for people wlLh slckle cell anemla WlLh good healLh care people wlLh
Lhe dlsease can be ln good healLh and llve lnLo Lhelr mldforLles and beyond
kesearch
8esearch conLlnues Lo look for drugs Lo LreaL slckle cell anemla SclenLlsLs have developed laboraLory
mlce LhaL have slckle cell dlsease slmllar Lo humans so new LreaLmenLs can be LesLed 8one marrow
LransplanLaLlon can cure Lhe dlsease buL Lhe marrow musL come from a healLhy maLched slbllng donor
and Lhe procedure has many rlsks
Congen|ta| toxop|asmos|s
Def|n|t|on
CongenlLal Loxoplasmosls ls a group of sympLoms LhaL occur when an unborn baby (feLus) ls lnfecLed
wlLh Lhe paraslLe 1oxoplosmo qoll
Causes
1he feLus can become lnfecLed wlLh Loxoplasmosls lf Lhe moLher becomes lnfecLed wlLh Loxoplasmosls
durlng Lhe pregnancy 1he lnfecLlon may spread Lo Lhe feLus durlng Lhe pregnancy lLself or durlng labor
or dellvery
lor Lhe moLher Lhe Loxoplasmosls lnfecLlon ls generally mlld and she may noL be aware of lL lnfecLlon
of Lhe feLus however can cause severe problems lnfecLlon early ln pregnancy resulLs ln more severe
problems Lhan laLer lnfecLlon
Symptoms
up Lo half of Lhe feLuses who become lnfecLed wlLh Loxoplasmosls durlng Lhe pregnancy ae born early
(premaLurely) CongenlLal Loxoplasmosls can damage Lhe babys eyes nervous sysLem skln and ears
CfLen Lhere are slgns of lnfecLlon ln Lhe baby aL blrLh Powever newborns wlLh mllder lnfecLlons may
noL have sympLoms or problems for monLhs or even years lf Lhey are noL LreaLed almosL all develop
problems (especlally ln Lhe eyes) when Lhey become adolescenLs
SympLoms may lnclude
O Lnlarged llver and spleen
O ularrhea or vomlLlng
O Lye damage from lnflammaLlon of Lhe reLlna or oLher parLs of Lhe eye
O leedlng problems
O Pearlng loss
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O !aundlce
O Low blrLh welghL (lnLrauLerlne growLh resLrlcLlon)
O Skln rash (peLechlae or ecchymosls) aL blrLh
8raln and nervous sysLem damage may be severe or very mlld and may lnclude
O Selzures
O Abnormal braln and nervous sysLem (neurologlc) funcLlon
xams and 1ests
1he physlcal examlnaLlon may show slgns of
O Anemla
O Cerebral calclflcaLlons
O ChorloreLlnlLls
O Larger head slze (hydrocephalus)
O Swollen lymph nodes (lymphadenopaLhy)
O Macrocephaly or mlcrocephaly
Slgns and sympLoms LhaL occur laLe ln Lhe dlsease lnclude
O Pearlng loss
O Selzures
O neurologlcal problems
O vlsual lmpalrmenL
renaLal LesLs lnclude
O AmnloLlc fluld LesLlng and feLal blood LesLlng
O AnLlbody LlLer
O ulLrasound of Lhe abdomen
osLnaLal dlagnosls
O AnLlbody sLudles on cord blood and cerebrosplnal fluld
O C1 scan of Lhe braln
O M8l scan of Lhe braln
O neurologlcal exams
O SLandard eye exam
O 1C8CP screen
1reatment
Splramycln can LreaL lnfecLlon ln Lhe pregnanL moLher
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yrlmeLhamlne and sulfadlazlne can LreaL feLal lnfecLlon (dlagnosed durlng Lhe pregnancy)
1reaLmenL of lnfanLs wlLh congenlLal Loxoplasmosls Lyplcally lncludes pyrlmeLhamlne sulfadlazlne and
leucovorln for one year lnfanLs are also someLlmes glven sLerolds lf Lhelr vlslon ls LhreaLened or lf Lhe
proLeln level ln Lhe splnal fluld ls hlgh
Cut|ook (rognos|s)
1he ouLcome depends on Lhe severlLy of Lhe congenlLal Loxoplasmosls
O Pydrocephalus
O 8llndness or severe vlsual dlsablllLy
O Severe menLal reLardaLlon or oLher neurologlcal problems
Call for an appolnLmenL wlLh your healLh care provlder lf you are pregnanL and Lhlnk you are aL rlsk for
Loxoplasmosls (for example lf you have a caL and are Lhe person who cleans Lhe llLLer box)
Call for an appolnLmenL wlLh your healLh care provlder lf you are pregnanL and have noL recelved any
prenaLal care
revent|on
rospecLlve or expecLanL moLhers can be LesLed Lo flnd ouL lf Lhey are aL rlsk for Loxoplasmosls
regnanL women who have caLs as house peLs may be aL lncreased rlsk of developlng Loxoplasmosls
1hey should avold conLacL wlLh any maLerlals LhaL are poLenLlally lnfecLed wlLh caL feces or LhaL could
be conLamlnaLed by lnsecLs exposed Lo caL feces (cockroaches flles eLc)
Cook meaL unLll lL ls well done and wash your hands afLer handllng raw meaL
keferences
8emlngLon !S McLeod 8 1hulllez uesmonLs C 1oxoplasmosls ln 8emlngLon !S fectloos ulseoses of
te letos o -ewot fot 6Lh ed hlladelphla a Saunders Llsevler 2006 chap 31
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Screening Tests for Newborns

Cverv|ew | Jhat are screen|ng tests?
kout|ne 1ests Congen|ta| D|sorders
If at k|sk Inher|ted (Genet|c) D|sorders | Infect|ous D|seases
Infect|ous D|seases
1C8CP anel
Newborns wbo bave certain symptoms or wbo are born to motbers wbo
may bave been exposed to certain pathogens may be screened for toxop|asmos|s
rube||a cytomega|ov|rus and herpes s|mp|ex v|rus 1hese four tests a|so may be run as a pane| known
as a 1CkCn screen Newborns may be screened for other |nfect|ons such as syph|||s hepat|t|s 8
enterov|rus pste|n8arr v|rus var|ce||azoster v|rus and human parvov|rus
Plv 1esLlng
ln Lhe unlLed SLaLes newborns are llkely Lo be screened for nIV |nfect|on |f the|r mothers were not
tested when they were pregnant (see nIV Screen|ng dur|ng regnancy) numan |mmunodef|c|ency
v|rus |s the v|rus that causes AIDS (acqu|red |mmunodef|c|ency syndrome) 1he |nfect|on can pass from
an |nfected mother to her ch||d dur|ng b|rth (when exposed |n the b|rth cana| to the mother's
secret|ons and b|ood) or dur|ng breastfeed|ng (when the |nfant dr|nks breast m||k conta|n|ng the
v|rus)
More than 90 of a|| AIDS cases |n ch||dren |n the Un|ted States came from the mother dur|ng
pregnancy In 200S about 142 ch||dren were |nfected w|th nIV from the|r mothers |n th|s country
reported the US Centers for D|sease Contro| and revent|on If a mother w|th nIV does not rece|ve
treatment dur|ng the pregnancy the ch||d has a 1 |n 4 chance of gett|ng AIDS J|th t|me|y treatment
fewer than 2 of ch||dren of |nfected mothers get the d|sease
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1hanks to aggress|ve screen|ng and ear|y |ntervent|on the Un|ted States has seen a steady dec||ne |n
new AIDS cases |n ch||dren 1he best way to protect the ch||d's hea|th |s to detect the nIV |nfect|on
dur|ng pregnancy treat the mother w|th med|cat|on and make b|rth|ng p|ans to he|p the baby avo|d
|nfect|on If the mother was not tested dur|ng pregnancy or ch||db|rth the newborn can be screened
and treated short|y after b|rth nIV test|ng has become rout|ne prenata| care |n th|s country some
states even requ|re that a|| pregnant women or the|r newborns be tested
O Screen|ng the mother A|| pregnant women |n the Un|ted States shou|d be counse|ed about
nIV ear|y |n the|r pregnancy and rece|ve vo|untary nIV test|ng to protect tbe cbild's bealtb.
Tbis is tbe recommendation of many groups, including tbe U.S. Public
Healtb Service, American Academy of Pediatrics, American College of
Ubstetricians and Cynecologists, and U.S. Preventive Services Task
Force.
O Screening tbe baby: In tbe United States, if tbe motber's HIV status
is not determined before or during pregnancy or during labor and
delivery, bealtb care providers recommend tbat tbe newborn be given
an HIV test {see FAQ here) w|th|n 24 hours of the b|rth (|n a few states th|s |s a
requ|rement) 1reatment begun w|th|n 48 hours of b|rth he|ps prevent a baby who was exposed to the
v|rus from becom|ng |nfected

Llnks
New Mex|co AIDS InfoNet Iact sheet 611 on "regnancy and nIV"
1he Je|| ro[ect (|nformat|on for nIVpos|t|ve women who are pregnant or p|ann|ng a pregnancy)

[a^UW_
uS CenLers for ulsease ConLrol and revenLlon Plv/AluS Loplcs pregnancy and chlldblrLh LasL modlfled
10 CcL 2007 Avallable on Lhe lnLerneL Lhrough http]]wwwcdcgov Accessed 27 Nov 2007
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US Centers for D|sease Contro| and revent|on Cne test two ||ves prenata| nIV screen|ng benef|ts
mom and baby Last mod|f|ed 1 May 2007 Ava||ab|e on the |nternet through http]]wwwcdcgov
Accessed 27 Nov 2007
Jork|ng Group on Ant|retrov|ra| 1herapy and Med|ca| Management of nIVInfected Ch||dren
Nat|ona| Inst|tutes of nea|th Gu|de||nes for the use of ant|retrov|ra| agents |n ped|atr|c nIV Infect|on
2S Cct 2006 DI ava||ab|e for down|oad at http]]wwwa|ds|nfon|hgov Accessed 27 Dec 2007
k|ng SM et a| va|uat|on and treatment of the human |mmunodef|c|ency v|rus1exposed |nfant
Aug 2004 Pediotrics 1142497S0S
New Mex|co AIDS InfoNet New Mex|co AIDS ducat|on and 1ra|n|ng Center Un|vers|ty of New
Mex|co nea|th Sc|ences Iact sheet 611 regnancy and nIV (2 May 2004) and Iact sheet 102 nIV
1est|ng (S Aug 2004) Ava||ab|e on the |nternet through http]]wwwa|ds|nfonetorg Accessed 27 Nov
2007

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lonL +8ody 11 pL

#age 4: |83] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |84] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |86] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |87] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |88] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |83] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |30] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |31] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |32] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |33] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |34] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL


#age 4: |36] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |37] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |38] Formatted #C22 12/3/2011 2:S7:00 #
#age 4: |33] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |100] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |101] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |102] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |103] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |104] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL


#age 4: |106] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |107] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |108] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |103] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |110] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL

#age 4: |111] Formatted #C22 12/3/2011 2:S7:00 #

#age 4: |112] Formatted #C22 12/3/2011 2:S7:00 #
#age 14: |113] Formatted #C22 12/3/2011 2:S7:00 #
lonL +8ody 11 pL no underllne lonL color AuLo

#age 14: |114] Formatted #C22 12/3/2011 2:S7:00 #


#age 14: |116] Formatted #C22 12/3/2011 2:S7:00 #

#age 14: |117] Formatted #C22 12/3/2011 2:S7:00 #

#age 14: |118] Formatted #C22 12/3/2011 2:S7:00 #

#age 14: |113] Formatted #C22 12/3/2011 2:S7:00 #

#age 14: |120] Formatted #C22 12/3/2011 2:S7:00 #

#age 14: |121] Formatted #C22 12/3/2011 2:S7:00 #

#age 1S: |122] Formatted #C22 12/3/2011 2:S7:00 #





#age 1S: |12S] Formatted #C22 12/3/2011 2:S7:00 #















































#age 1S: |1S0] Formatted #C22 12/3/2011 2:S7:00 #









#age 16: |1SS] Formatted #C22 12/3/2011 2:S7:00 #

#age 16: |1S6] Formatted #C22 12/3/2011 2:S7:00 #



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