Hurler's syndrome is one of the genetic mucopolysaccharidosis. It is also known as MPS 1H, gargoylism, dysostosis multiplex, lipochondrodystrophy and Hurler-Pfaundler syndrome. Manifestations of Hurler's comprise a wide range of skeletal deformities, clouding of the cornea, hepatosplenomegaly, and mental retardation. The incidence is one in one thousand births. Clinical findings become evident by one to two years of age with skull changes being the earliest manifestations.
Death occurs by age ten to fifteen years of age.
Radiologic findings include a large skull with frontal and occipital hyperostosis, hypertelorism, long shallow sella turcica with anterior pocketing demonstrating the J sign, and facial bone deformities. The ribs are often broad and canoe paddle shaped. Terminal phalanges of the hands can be broad and short. The long bones may show swollen shafts secondary to medullary cavity expansion. There is often cardiomegaly and pulmonary edema.