Acute Hydrocephalus in Hurler's Syndrome

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