Index of Suspicion in the Nursery

Abstract

An 8-day-old girl was referred to the hospital for acute respiratory insufficiency and multiorgan failure. A few hours before admission, her parents noticed poor feeding, deteriorating general condition, and severe abdominal enlargement. The infant was the second child of young healthy parents, born vaginally at 39 weeks’ gestation. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. At birth no abdominal enlargement or skin lesions were observed. On admission the skin was pale and the abdomen distended. Laboratory results revealed the following: thrombocytopenia (platelet count, 29 × 103/μL [29 × 109/L]), coagulation disorders (D-dimer, 11.22 μg/mL [61.44 nmol/L]; fibrinogen, 80 mg/dL [2.35 mmol/L]), and high levels of alanine aminotransferase (543 U/L [9.07 μkat/L]) and aspartate aminotransferase (2,263 U/L [37.79 μkat/L]). Ultrasonography revealed hepatomegaly. The next day the child's condition continued to deteriorate. She presented with signs of severe circulatory and respiratory insufficiency, followed by cardiac arrest and shock. She was admitted to the pediatric intensive care unit, where cardiopulmonary resuscitation was performed. She was intubated and administered mechanical ventilation, analgesia, neuroprotection, aggressive fluid therapy, and catecholamine infusion. Computed tomography confirmed hepatomegaly with reduced …