A 1½-YEAR-OLD with recurrent episodes of jaundice that were associated with intercurrent infections is pictured in Figure 1 and Figure 2. Conjugated hyperbilirubinemia and elevated serum cholesterol and triglyceride levels were present. A roentgenogram of his chest demonstrated abnormal vertebrae (Figure 3). His father has features of the same disorder and manifests an eye abnormality (Figure 4).
Denouement and Discussion
Alagille Syndrome (Arteriohepatic Dysplasia)
Alagille syndrome is characterized by five major features: peculiar facies (95%), chronic cholestasis (91%), posterior embryotoxon of the eye (88%), butterflylike vertebral arch defects (87%), and peripheral pulmonary hypoplasia or stenosis (85%).1,2 The syndrome is one of many causes of intrahepatic cholestasis with paucity of the bile ducts, which include alpha1-antitrypsin deficiency, congenital rubella, and cytomegalovirus infections. The incidence is estimated to be one in 100 000 births.Features of the peculiar facies are a prominent forehead, hypertelorism with deep-set eyes, a
Maródi L, Rigó G, Káposzta R. Picture of the Month. Arch Pediatr Adolesc Med. 1994;148(3):287-288. doi:10.1001/archpedi.1994.02170030057013