Acute Hydrocephalus in Hurler's Syndrome

摘要: Hurler's syndrome (mucopolysaccharidosis type 1H) is an inherited metabolic disorder associated with a deficiency of α-L-iduronidase. Affected patients have characteristic appearance and progressive multisystem deterioration, death usually occurring before age 10.1,2In this report, we describe two boys the clinical features less than 1% normal α-L-iduronidase activity in their cultured fibroblasts. Both had rapidly increasing head circumferences acute neurological deterioration secondary to severe hydrocephalus, were successfully treated by placement ventriculoperitoneal shunt. Report Cases.—Case1.—A boy was first seen at Johns Hopkins Hospital, Baltimore, 2 years for evaluation developmental delay. He macrocephalic child circumference 56 cm (> 98th percentile) typical syndrome. Neurological findings except impaired congnitive skills. Bailey IQ 3 59. At 4½