Mucopolysaccharidosis I-H [Hurler's]

ABSTRACT

A 7-year-old girl had large and diffusely cloudy corneas. Course facial [gargoyle-like] features, hypertelorism, large protuberant tongue, dwarfism with skeletal abnormalities, short and stubby hands, thick skin with hypertrichosis, respiratory and cardiac disease, mental retardation, and excessive urinary acid mucopolysaccharides [dermatan sulfate and heparan sulphate] and histopathologic features of tissue biopsy confirmed the diagnosis of classic Hurler's disease