Hypotonia, Respiratory Distress, and Cardiomegaly in a 3-month-old Boy

摘要

A 3-month-old boy is brought to the emergency department for a persistent cough and difficulty breathing. He was born at 34 weeks' gestation after preterm labor and a complete course of maternal betamethasone. His mother had diet-controlled gestational diabetes. A maternal first cousin died of an unspecified cause in early infancy. His birthweight was 2,717 g. He required brief continuous positive air pressure therapy, but he weaned to room air within 24 hours. His NICU course was prolonged due to hypotonia and poor oral motor coordination. Results of brain magnetic resonance imaging, 2 metabolic screens, and Prader-WiHi gene testing were normal. His swallow study demonstrated poor coordination, without aspiration. After 7 weeks, he was discharged home on bolus nasogastric feeds. He is tolerating the nasogastric feeds, with normal wet diapers. There are no sick contacts.