Hurler/Scheie genetic compound (mucopolysaccharidosis IH/IS) in Japanese brothers

Abstract

Two brothers, aged 21 and 18 years, respectively, presented with Hurler‐like clinical features and normal intelligence. Both had severe dwarfism, characteristic facies, corneal opacities, hearing defect, cardiac enlargement, umbilical and inguinal hernias, and multiple skeletal changes. Both were found to excrete an excessive amount of mucopolysaccharide, shown to be dermatan sulfate and heparan sulfate in the proportion of 9:1. Metachromatic granules could not be found in the peripheral blood leukocytes of either patient. Cultured skin fibroblasts from the younger brother exhibited α‐L‐iduronidase deficiency. In view of these findings, they were diagnosed as Hurler/Scheie genetic compound heterozygotes. A lamellar corneal graft in the older brother remained clear for 4 years after operation.