“Blueberry Muffin” Rash and Neonatal Cholestatic Liver Failure

Excerpt

A 4-week-old ex-33 male infant, born to a 27-year-old G3P3 Ethiopian mother through normal vaginal spontaneous delivery, was transferred to our facility for liver transplant evaluation. His overall birth was unremarkable except for mild transient tachypnea of the newborn and a brief oxygen requirement. Laboratory studies were notable at onset for significant thrombocytopenia (platelets 10 K/µL) requiring ongoing platelet transfusions; hepatitis (AST 500 U/L, ALT 90 U/L); stable coagulopathy (International normalized ratio [INR] 1.9); cholestasis (total bilirubin 24.5 mg/dL, direct bilirubin 12.4 mg/dL); mild hypoalbuminemia (3.2 g/dL); and hyperammonemia (70–100 µmol/L). The infant was otherwise stable and off pressors or antibiotics. Social and family histories were unremarkable except for parental Ethiopian descent, without consanguinity. Ursodiol, lactulose, and multivitamin drops were prescribed for the presumed liver failure. …