Denoument and Discussion
Major manifestations include neonatal intrahepatic cholestasis, hypoplasia and stenosis of the pulmonary arteries, distinctive facies, skeletal anomalies, and growth retardation.The onset of cholestasis occurs in the first three months of life. The clinical picture varies and may resemble neonatal hepatitis, biliary atresia, or mild chronic impairment of liver function. Hepatomegaly with or without splenomegaly is found. Liver function tests are often moderately abnormal and serum phospholipids and cholesterol may rise to extreme levels. Liver biopsy specimen usually shows hypoplasia of intrahepatic bile ducts with minimal fibrosis. The extrahepatic bile ducts are patent.The principle cardiovascular lesion is peripheral pulmonic stenosis. Cardiac angiography demonstrates hypoplasia and single or multiple stenoses of the pulmonary arterial tree. Additional cardiovascular malformations, including pulmonary valvular stenosis, atrial and ventricular septal defects, patent ductus arteriosus, coarctation of the aorta, small left common carotid artery, and truncus arteriosis, have been
Gellis SS, Feingold M, Dubner DW, Kreidberg MB, Allport RB. Picture of the Month. Am J Dis Child. 1979;133(2):205–206. doi:10.1001/archpedi.1979.02130020097020
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