Neonatal Hemochromatosis: Evaluation of the Neonate with Hepatic Failure

Abstract

1. Hepatic failure in a newborn infant should raise the suspicion of neonatal hemochromatosis. 2. The diagnosis of neonatal hemochromatosis has implications for future pregnancies. After completing this article, readers should be able to: 1. Describe the pathophysiology underlying neonatal hemochromatosis. 2. Identify the characteristic presentation of neonates with neonatal hemochromatosis. 3. Understand the diagnostic evaluation of neonates presenting with acute liver failure. 4. Outline general pre- and postnatal management strategies for infants with or at high risk for neonatal hemochromatosis. An 1,870-g female infant is delivered at 32 6/7 weeks’ gestational age by a 25-year-old gravida 3, para 3 mother by emergency cesarean section for nonreassuring fetal status, anhydramnios, and a biophysical profile score of 2/10. The infant has Apgar scores of 7 and 8 at 1 and 5 minutes, respectively. She is transported back to the neonatal intensive care unit (NICU) while receiving 4 L/min of high-flow nasal cannula, at a fraction of inspired oxygen of 0.30. On admission, blood-tinged secretions are noted after placement of the nasogastric tube, along with oozing from the umbilical lines, which had been placed. Chest and abdominal radiographs are obtained and dilated bowel loops are noted, so a Replogle tube is placed and copious bloody secretions are removed. The infant becomes hypotensive (mean arterial pressure, 20 mm Hg), so normal saline bolus is given (×3) and blood products are empirically ordered for concerns about coagulopathy. Admission laboratory studies are notable for a hematocrit of 27%, international normalized ratio (INR) more than 10, partial thromboplastin time (PTT) greater than 100 seconds, fibrinogen less than 25 mg/dL (0.74 μmol/L), total protein 2.4 g/dL (24 g/L), albumin 1.7 g/dL (17 g/L), aspartate aminotransferease (AST) 40 IU/L (0.68 μkat/L), alanine aminotransferase (ALT) 10 IU/L (0.17 μkat/L), total bilirubin 3.5 mg/dL (60 μmol/L, and conjugated bilirubin 0.7 mg/dL [12 μmol/L]). The infant is …