Index of Suspicion in the Nursery

Abstract

Five days after birth at a private hospital, an infant is brought to another hospital because he is inactive and limp. The delivery was by outlet forceps after a supervised, normal pregnancy to consanguineous (uncle-niece) parents. His birthweight was 3.25 kg. According to his parents, he did not cry until 1 hour after birth, was limp, fed poorly, and a few hours later, had cyanosis of lips and nails and generalized tonic and clonic convulsions that were unresponsive to anticonvulsants and intravenous glucose. The parents were told that he had hypoxic brain injury and possibly an intracranial hemorrhage. The convulsions became less frequent once expressed human milk was provided through a nasogastric tube. The exact details of management at the private hospital are not available. The infant is the first child of the woman, who is well nourished and does not have diabetes. His weight on admission at 5 days of age is 3.66 kg, length is 49 cm, and head circumference is 33 cm. He is inactive and limp. His temperature is 97.8°F (36.6°C) and heart rate is 170 beats/min. His cry is feeble and response to pain is minimal. His anterior fontanelle is normal, hydration is adequate, Moro reflex is incomplete, and sucking and rooting reflexes are poor. He does not have syndromic features or acidosis. No additional findings are revealed in the remainder of the general and systemic evaluations. The results of a complete blood count; measurement of electrolytes, calcium, and bilirubin; review of the cerebrospinal fluid and urinalysis; electrocardiography and radiography of the chest and skull; and abdominal ultrasonography are normal. Cultures of blood, cerebrospinal fluid, and urine are sterile. Oxygen saturation is 98%. Blood glucose on admission is 41 mg/dL (2.28 mmol/L) and is monitored every 1 to 4 hours. Urine ketones are negative. The …