RevPaulPediatr.2016;34(3):384---387
REVISTA
PAULISTA
DE
PEDIATRIA
www.rpped.com.br
CASE
REPORT
Congenital
intrahepatic
portosystemic
shunt
diagnosed
during
intrauterine
life
Camila
Vieira
Bellettini
a,∗,
Rafaela
Wagner
a,
Aleocídio
Sette
Balzanelo
b,
André
Luis
de
Souza
Andretta
b,
Arthur
Nascimento
de
Moura
b,
Catia
Carolina
Fabris
b,
Eduardo
Maranhão
Gubert
baHospitalPequenoPríncipe,Curitiba,PR,Brazil
bPontifíciaUniversidadeCatólicadoParaná,Curitiba,PR,Brazil
Received22November2015;accepted22March2016 Availableonline24April2016
KEYWORDS Prenataldiagnosis; Congenital abnormalities; CTscan;
Dopplerultrasound
Abstract
Objective: Toreportapatientwithprenataldiagnosisofportosystemicshunt;ararecondition inhumans.
Casedescription: 17-Day-old femaleinfant admitted for investigation ofsuspected diagno-sisofportosystemicshunt,presumedinobstetricultrasound.The hypothesiswasconfirmed after abdominal angiography and liver Doppler. Other tests such as echocardiography and electroencephalogram were performed to investigate possibleco-morbidities or associated complications,andwere normal.We choseconservativeshunttreatment,astherewereno disease-relatedcomplicationsandthiswasintrahepaticshunt,whichcouldclosespontaneously bytheageof2years.
Comments: Portosystemicshuntcanleadtovariouscomplicationssuchashepatic encephalo-pathy,hypergalactosemia,livertumors,andhepatopulmonarysyndrome.Mostdiagnosesare doneafteronemonthofage,aftersuchcomplicationsoccur.Theprenataldiagnosis ofthis patientprovidedgreatersecurityfortheclinicalpicturemanagement,aswellasregular mon-itoring, which allowsthe anticipation ofpossiblecomplications andperform interventional procedureswhenneeded.
©2016SociedadedePediatriadeS˜aoPaulo.PublishedbyElsevierEditoraLtda.Thisisanopen accessarticleundertheCCBYlicense(http://creativecommons.org/licenses/by/4.0/).
PALAVRAS-CHAVE Diagnósticopré-natal; Anormalidades congênitas;
Shuntportossistêmicocongênitointra-hepáticodiagnosticadonavidaintrauterina
Resumo
Objetivo: Descrever ahistóriaclínica de paciente comdiagnóstico pré-natal deshunt por-tossistêmico,condic¸ãoraranaespéciehumana.
∗Correspondingauthor.
E-mail:camila.bellettini@gmail.com(C.V.Bellettini). http://dx.doi.org/10.1016/j.rppede.2016.03.016
Congenitalintrahepaticportosystemicshuntdiagnosedduringintrauterinelife 385
Tomografia computadorizada; Ultrassonografia Doppler
Descric¸ãodocaso: Recém-nascidodosexofemininointernadaaos17diasparainvestigac¸ãode suspeitadiagnósticadeshuntportossistêmico,aventadanaecografiaobstétrica.Ahipótesefoi confirmadaapósangiotomografiadoabdomeeecodopplerhepático.Outrosexames,como eco-cardiogramaeeletroencefalograma,foramfeitosparainvestigac¸ãodepossíveiscomorbidades oucomplicac¸õesassociadasetiveramresultadosnormais.Optou-seportratamentoconservador doshunt,jáquenãohaviaquaisquercomplicac¸õesrelacionadasàdoenc¸aetratava-sedeshunt
intra-hepático,quepodefecharespontaneamenteatéosdoisanosdeidade.
Comentários: Oshuntportossistêmicopodelevaradiversascomplicac¸ões,comoencefalopatia hepática, hipergalactosemia,tumores hepáticose síndromehepatopulmonar. A maioriados diagnósticoséfeitaapartirdeummêsdevida,apóstaiscomplicac¸õesocorrerem.Odiagnóstico pré-nataldessapacientepossibilitoumaiorseguranc¸aparaomanejodoquadro,bemcomoum acompanhamento periódicoquepermite anteciparpossíveiscomplicac¸ões eadotar conduta intervencionista,senecessário.
©2016SociedadedePediatriadeS˜aoPaulo. PublicadoporElsevier EditoraLtda.Este ´eum artigoOpenAccesssobumalicenc¸aCCBY(http://creativecommons.org/licenses/by/4.0/).
Introduction
Portosystemic shunt is a rare condition, which was first describedin1793byJohnAbernethy.Itconsistsof congeni-talvascularanomalyinwhichthebloodfromtheportalvein drainsdirectlyintoasystemicvein,deviatingfromtheliver circulation.1,2
Inhumans,theincidenceofportosystemicshuntis esti-matedatoneper30,000birthsandisassociatedwithother conditions,suchas gastrointestinal,genitourinary, cardio-vascular,andbonemalformations.1---3
Case
description
Newbornbabygirltransferredtotheservicewith17daysof lifeforinvestigationofpossiblepresenceofportosystemic shunt. The hypothetical diagnosis wassuggested during a routineobstetricultrasoundinthethirdtrimesterof gesta-tionthat,besidesthesuspectedshunt,showedintrauterine growthrestriction(IUGR),microcephaly,shorteningof the long bones, and increased placental size. Mother had no priororduringpregnancycomorbidities.
The babywasborn at37 weeksof gestationalage,via cesarean section, with birth weight 1900g, small for the gestationalage,4 andApgar score6and 9at firstand5th
minutes,respectively.Atbirth,shewastransferredtothe neonatal intensive care unit (NICU), where she remained for 11 days to gain weight and get treatment for other complications, such as respiratory distress and neonatal jaundice requiring phototherapy. After stabilization, the patientwastransferred totheHospital PequenoPrincipe, inordertoinvestigatethesuspecteddiagnosisof portosys-temicshunt.
Thenewbornwasadmittedasymptomatic,ingood gen-eral condition, ruddy, hydrated, and vital signs within normal values. Clinical examination showed no evidence of microcephalyor shorteningof thelong bonesobserved in obstetricultrasound. The investigation continuedwith: (1) abdominalultrasound, which showed no change, with insufficient assessment of portal vein; (2) computerized tomography (CT) angiography, which indicated liver with normaldimensions,contours,anddensity,withprominence
Figure 1 Abdominal CT angiography --- venous phase. The arrowpointstodilationoftheintrahepaticportalvein, with portosystemicshunt.
386 BellettiniCVetal.
Figure2 AbdominalultrasoundwithDoppler.Thearrow indi-catestheportosystemicshunt.
Afterdiagnosis,conservativetreatmentwaschosendue tothe optimal clinical outcome, absence of any disease-relatedcomplications,andtypeofshunt,whichcouldclose spontaneously.Thechildremainsinperiodicmonitoringwith clinicalandlaboratoryassessments.
Discussion
Portosystemicshuntisclassifiedintointrahepaticand extra-hepatic.Extrahepaticshuntdirectlyconnectstheportalvein trunk(oroneofitsbranches)withthevenacava(oroneofits branches).Inintrahepaticshuntoccursconnectionbetween
Table1 Laboratorytests.
Testsperformed Valuefound Referencevalue
Albumin 3g/dL 2.8---4.4g/dL
Ammoniaa 55
moL/L 9---33moL/L
Directbilirubin 0.48mg/dL 0.0---0.6mg/dL Indirectbilirubina 2.62mg/dL 0.2---1.0mg/dL
Totalbilirubina 3.1mg/dL 0.6---1.4mg/dL
Ionizedcalcium 1.41mmoL/L 1.15---1.32mmoL/L Serumcreatinine 0.4mg/dL 0.1---0.5mg/dL Alkalinephosphatasea 385U/L 145---320U/L
Phosphorus 6.1mg/dL 3.9---6.5mg/dL Gamma-glutamyl
transferasea
177U/L Even115U/L
Hemoglobin 12.8g/dL 9.0---18.0g/dL Whitebloodcells 12,130L 5000---15,000uL
Magnesium 2mg/dL 1.7---2.3mg/dL Platelets 320,000L 150,000---450,000L
Potassium 5.5mmoL/L 4.1---5.3mmoL/L C-reactiveprotein 6.3mg/dL <10mg/L Sodium 137.2mmoL/L 136---145mmoL/L Prothrombinactivitya 67.9% 70---100%
APTT 39.9seg(1.25) 0.8---1.25 AST 48U/L 20---60U/L ALT 34U/L 6.0---45U/L Urea 8mg/dL 5---40mg/dL
APTT, activated partial thromboplastin time; AST, aspartate
aminotransferase;ALT,alanineaminotransferase.
aAbnormaltests.
the portal vein (or one of its branches) with the hepatic vein orinferior vena cava.1,3,5,6 Thus,theintestinalblood
passesstraightintothesystemiccirculationwithoutpassing throughtheliver.7
Possiblefactorsthatinfluence thedevelopmentof this congenital malformation are: (1) genetic component; (2) complexprocess of malformations,withthe shunt associ-atedwithheart,kidney,bone,andothermalformations;(3) liverhemangioma,whichcanconnectthevesselsofportal system with hepatic vessels; and 4) absence of the duc-tusvenosusduringfetallife,whichleadstothegenesis of anomalousvesselstofulfillitsfunction.8
Most portosystemic shunt diagnosis occurs after one month of age due to complications or even,accidentally, duringtheinvestigationofassociateddiseases,suchasheart disease.2,8Inabout10%ofcases,thediagnosisismadeinthe
prenatalperiod,asoccurredinthepatientpresentedhere.8
Prenatalidentificationofshunthasbecomemorefrequent withthetechnicalimprovementofdiagnosticimaging; how-ever, this method haslimitations.9,10 Postnatalultrasound
is importantand usefulin confirming changesdetected in prenataltesting.9
Becausepart of the mesenteric circulation is deviated from its passage through the liver, the metabolism of galactose, ammonia, and other toxic compounds fail to occurnormally,leadingtoincreasedserumconcentrations of these substances.2 The prevailing shunt symptoms are
associatedwithhepaticencephalopathyresultingfromthis toxicity.6---8,11 Drowsiness, confusion, behavioral changes,
irritability, disorientation, school difficulties, inattention and hyperactivity are the manifestations. Mental retar-dation and seizures may also be identified.8,10 Hepatic
encephalopathyismorecommoninolderpatients;itis iden-tifiedin15%ofcasesofportosystemicshuntsinchildren.1
Other serious shunt manifestations are hypergalac-tosemia, neonatal cholestasis, liver tumors, pulmonary arterial hypertension, hepatopulmonary syndrome.6---8,11
It may also be associated with: membranoprolifera-tive glomerulonephritis,hyperinsulinemiawithhyper- and hypoglycemia, hypothyroxinemia,hyperandrogenism, pan-creatitis, and heart failure.8,12 There are reports in the
literaturesuggestingthatIUGR,asseeninourpatient,may alsobeshunt-related.8,9,13 Theexplanationfor IUGRisthe
reductionofliverperfusioncausedbytheshunt.Adequate hepatic infusion appears toinduce cell proliferation with consequentincreaseofinsulin-likegrowthfactor-1(IGF-1) from mRNA expression in the liver, as well as increased peripheral cell proliferation. Given the above,the litera-turesuggeststhatincasesofIUGRwithoutobviousetiology, suchasplacentalinsufficiencyor chromosomal abnormali-ties,thepossiblediagnosisofportosystemicshuntshouldbe consideredandpre-andpostnatalultrasoundperformed.13
Eventually,thereisliveratrophyduetodecreased hep-atotrophicsubstancesenteringtheliverthroughtheportal circulation.1,2Portalhypertensionfeatures,suchasascites,
varices,andsplenomegaly,arerareincongenital portosys-temic shunt. When these signs are present, other causes of spontaneous shunt should be considered.2 Laboratory
testsmayshowincreasedlevelsoftransaminases, gamma-glutamyl transferase, prothrombinactivity,ammonia, and bilirubin.Serumalbuminmaybedecreased.8Intheclinical
Congenitalintrahepaticportosystemicshuntdiagnosedduringintrauterinelife 387
increasedammonia,alkalinephosphatase,gamma-glutamyl transferaseanddecreasedprothrombinactivitywithoutany clinicalconsequences.Thesechangeswerenotconsidered seriousshuntcomplications.
TheimagingtestofchoicefordiagnosisisDoppler ultra-soundoftheportalsystem.1,5,8CTscanisthenextimaging
testtobeperformed tobetterdetail theregionanatomy, contributingtothebesttherapeuticdecision.8
Due to its severe potential complications, surgical or radiological intervention is indicated to correct the por-tosystemicshunt.Reportsintheliteratureshowthebenefit of thisrepair evenin asymptomatic shunts, withthe role ofpreventingfurthersignificantrepercussions.6,8Moreover,
theolderthechildandthelargerthediameteroftheveins involvedinshunt,theharderitbecomestocloseit, empha-sizingtheimportanceof earlyintervention.3 Ontheother
hand, in the specific situation of asymptomatic intrahep-aticshuntinchildrenlessthan2yearsold,watchfulwaiting is indicated,asmostof themcloses spontaneouslybefore 24monthsofage.However,ifitdoesnotcloseuntiltheage of2years,interventionshouldbeconsidered.6,8---10,13Based
onthisknowledge,weoptedforwatchfulwaitinguntilour patientcompleted2yearsofageoruntiltheappearanceof signsofcomplications.
In symptomatic cases requiring therapeutic interven-tion, there are reports that, after the shunt resolution, laboratory abnormalities, neurological manifestations, and liver tumors regress completely or at least improve significantly.8,10 Pulmonary hypertension can be resolved,
provided that the shunt is corrected before the devel-opment of irreversible vascular lesions.8 There is also
improvementofcognitivefunctionandrecoveryofweight andheightinthepresenceofthesechanges.10
Portosystemicshunts arerarediseases withpotentially serious complications. If prenatal diagnosis has not been made, it should be considered in the postnatal period in the presence of encephalopathy, pulmonary hyperten-sion,hepatopulmonarysyndrome,andneonatalcholestasis, particularlywith laboratory abnormalities, suchas hyper-ammonemia,hypergalactosemia,directhyperbilirubinemia, andincreasedtransaminases.Inourexperience,we empha-size the importance of prenatal diagnosis, which allowed greatersecurityfortheclinicalpicturemanagement,aswell asregularmonitoring,whichallowstheanticipationof pos-siblecomplicationsandperforminterventionalprocedures whenneeded.
Funding
Thisstudydidnotreceivefunding.
Conflicts
of
interest
Theauthorsdeclarenoconflictsofinterest.
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