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July 1982

Cerebral Edema in Maple Syrup Urine Disease

Author Affiliations

Clinica Pediatrica di Perugia Perugia, Italy; Ospedale di Perugia Perugia, Italy; Istituto Gaslini Genoa, Italy

Am J Dis Child. 1982;136(7):648. doi:10.1001/archpedi.1982.03970430080027

Mantovani et al1 have recently reported the occurrence of pseudotumor cerebri and computed tomographic (CT) abnormalities in two patients with classic maple syrup urine disease (MSUD). We have observed the same CT abnormalities and clinical evidence of cerebral edema in a 12-day-old boy with MSUD, and suggest that this complication may in fact be more common than usually believed.

Report of a Case.—A boy was born following an uncomplicated pregnancy and delivery, weighing 3,200 g; head circumference (HC) was 35 cm at birth. He was well until the fifth day of life when lethargy, poor feeding, and vomiting appeared. Despite progression of the symptoms, he cranial pressure may partially be compensated for by the distensible skull of the neonate and thus be overlooked on clinical examination alone; only recently have CT-scan facilities become available; and the disease is so rare that it is only sporadically observed in most