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June 1982

Acute Hydrocephalus in Hurler's Syndrome

Author Affiliations

Johns Hopkins University School of Medicine Baltimore

Am J Dis Child. 1982;136(6):556-557. doi:10.1001/archpedi.1982.03970420080021

Hurler's syndrome (mucopolysaccharidosis type 1H) is an inherited metabolic disorder associated with a deficiency of α-L-iduronidase. Affected patients have a characteristic appearance and progressive multisystem deterioration, with death usually occurring before age 10.1,2 In this report, we describe two boys with the clinical features of Hurler's syndrome and less than 1% normal α-L-iduronidase activity in their cultured fibroblasts. Both had rapidly increasing head circumferences and acute neurological deterioration secondary to severe hydrocephalus, and were successfully treated by placement of a ventriculoperitoneal shunt.

Report of Cases.Case 1.—A boy was first seen at the Johns Hopkins Hospital, Baltimore, at 2 years of age for evaluation of developmental delay. He was a macrocephalic child with a head circumference of 56 cm (> 98th percentile) and the typical features of Hurler's syndrome. Neurological findings were normal except for impaired congnitive skills. Bailey IQ at age 3 was 59. At age 4½