Neonatal Presentation of Alagille Syndrome

Alagille syndrome is a rare genetic disorder that is defined by several findings, including opthalmologic, vertebral, renal, cardiovascular, and hepatic abnormalities, as well as characteristic faces. While it is commonly thought that all of these abnormalities are necessary for diagnosis, some patients with Alagille syndrome have only a few of these abnormalities. While the literature shows that not all characteristics must be present for a diagnosis, there are few reports of incomplete Alagille syndrome in premature infants. A 31-week Hispanic female presented with some, but not all, of the classic findings of Alagille syndrome. The initial clues to her underlying condition were acholic stools and direct hyperbilirubinemia. An extensive evaluation, while ruling out many diagnoses, revealed a small patent ductus arteriosus by echocardiogram, paucity of bile ducts determined by liver biopsy, and bilateral posterior embryotoxon. This constellation of findings led to a clinical diagnosis of Alagille syndrome, though no renal or vertebral anomalies were present. Characteristic facial features were also absent, but developed over time. The patient's cholestasis resolved over time without intervention. This case demonstrates the need for clinicians to have a low threshold for considering Alagille syndrome in premature infants who present with some, but not all, of the classic phenotypic features.