Some helpful features may include dysmorphic faces (Alagille’s syndrome), evidence of congenital heart disease (Alagille’s syndrome, biliary atresia), an abdominal mass (choledochal cyst, tumour), hepatomegaly/splenomegaly (found with obstruction, inflammation, a storage disorder or tumour), failure to thrive and an abnormal respiratory examination (cystic fibrosis). Far less common is the presentation of seizures, either from hypocalcemia secondary to vitamin D deficiency or from hypoglycemia.Ī thorough physical examination may provide evidence of cholestatic liver disease and its underlying etiology. Another presentation of severe liver disease is bleeding and bruising due to vitamin K deficiency. Infants with severe liver disease may also present with encephalopathy, which might be difficult to diagnose in the neonatal period because it may manifest with nonspecific poor feeding and sleep disturbances. The presence of pale stools is a sensitive marker for liver disease, but parental reports of the history of stool colour may be misleading because the stool colour may be influenced by oral intake. Rather, the article will focus on the issue of the jaundiced infant in an outpatient setting, including initial management, interpretation of findings and timing of referral, as well as review some of the more common causes of cholestatic liver disease.Ĭlinically, most patients with cholestatic liver disease have jaundice, dark urine and pale stools, but otherwise look well. The most important predictor of success is early age at operation ( 5), preferably 60 days of age or younger ( 6).Įxploring all causes of the diagnostic and management dilemma of neonatal jaundice is beyond the scope of this article. Survival and outcome are improved with a Kasai portoenterostomy to restore bile drainage. Without therapy, its natural course is very poor, with less than 10% survival by the third year ( 5). It is the single most common cause of neonatal liver disease ( 4). The most compelling evidence for the importance of early detection is the condition of extrahepatic biliary atresia. Early identification of infants with cholestatic liver disease is critical so that a correct diagnosis is made and the appropriate therapy is instituted. The difficult task facing primary care providers is discriminating between serious conjugated hyperbilirubinemia and benign unconjugated jaundice because in the early stage, the infants can look very well except for their jaundice. The vast majority of these neonates have benign unconjugated hyperbilirubinemia but one in 2500 live births has cholestatic liver disease ( 3). It can occur in up to 15% of all newborns ( 2).
Persistent jaundice in the neonate is defined as jaundice that lasts longer than 14 to 21 days ( 1).
0 kommentar(er)
