DOI: 10.1373/clinchem.2015.251231


A male neonate was born to a 35-year-old mother at an outside hospital at 39 1/7 weeks gestation via emergency cesarean section due to decreased fetal movements. The infant had respiratory distress secondary to meconium aspiration and was noted to have a large, distended abdomen at birth. Subsequent ultrasound confirmed hepatosplenomegaly with no evidence of liver mass or ascites. By report, alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase were initially within the reference intervals, but the patient had a prolonged INR (international normalized ratio) and hypoalbuminemia, supporting liver dysfunction. The infant was transferred to our institution for specialized care owing to hepatosplenomegaly, hypoglycemia, and coagulopathy of unknown etiology. On admission, the infant was additionally noted to be mildly pancytopenic, with increased lactate and ammonia. Initially, infectious etiologies were of primary concern given the history of meconium aspiration and the history of hepatosplenomegaly, which may be a presenting feature in patients with congenital infection. However, an extensive infectious disease workup was negative and included screens for hepatitis A, B, and C, HIV, herpes simplex virus, cytomegalovirus, Epstein–Barr virus, parvovirus, enterovirus, toxoplasmosis, and blood, urine, and stool cultures.