Notices

Abstract

A 1940-gram male infant was delivered by emergency Caesarean section because of fetal distress at a Level 1 maternity hospital. The mother had no prenatal care and neither her medical history nor her serology was known. The mother presented in active premature labor, presumably at approximately 34 weeks gestation. After resuscitation requiring intubation and tracheal administration of epinephrine, the baby was referred to the neonatal intensive care unit of Debrousse Hospital with a diagnosis of prematurity, respiratory distress syndrome and abdominal distension, possibly secondary to intestinal obstruction.The chest radiograph was consistent with the diagnosis of hyaline membrane disease. Despite exogenous surfactant instillation and a trial of high frequency oscillation, the infant`s respiratory function failed to improve. The abdominal distension was thought to exacerbate this problem. The abdominal wall was tender, painful and inflamed. The plain film showed limited gas in the intestinal tract ( Fig. 1), and the ultrasound scan showed ascites without dilation of the small bowel.Laboratory findings showed metabolic acidosis (pH = 7.16; base excess = 12), leukocytosis (21,000/mL), thrombocytopenia (18,000/L), hypoglycemia (glucose G1.1 mmol/L) and a coagulation deficit (prothrombin activity G50% despite intravenous vitamin K administration). Antibiotics were started and continued in association with transfusion of platelets and fresh frozen plasma. A laparotomy was performed on the second day of life. No obstruction was obvious at laparotomy. The liver was enlarged and dark in color. Culture of the peritoneal fluid was sterile. In absence of obvious diagnosis we performed infectious and metabolic evaluations and bone radiographs (Fig. 2).What is the likely diagnosis? A. Hirschsprung disease. B. Congenital syphilis. C. Infectious liver failure. D. Inborn errors of metabolism.