Maple syrup urine disease (MSUD) can have several clinical presentations.1-3 Awareness of these presentations is essential for early diagnosis and institution of dietotherapy. In this article, we describe a patient with MSUD who had the unusual clinical picture of increased intracranial pressure.
Report of a Case.—The patient was a 3.3-kg male newborn, product of an uncomplicated pregnancy and delivery at term to a 24-year-old gravida 4, para 4 mother. He was breast fed and did well until the age of 1 week, when progressive lethargy, irritability, and poor suck developed. The parents were second cousins, and all three other siblings were healthy. On admission to the American University Hospital in Beirut, Lebanon, at the age of 13 days, he was hypotonic with poor reflexes and had shallow rapid respiration, bulging anterior fontanel, and marked separation of sutures. The head circumference was 36 cm (80th percentile) and the length
MIKATI MA, DUDIN GE, DER KALOUSTIAN VM, BENSON PF, FENSOM AH. Maple Syrup Urine Disease With Increased Intracranial Pressure. Am J Dis Child. 1982;136(7):642-643. doi:10.1001/archpedi.1982.03970430074022