Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on...

Multidisciplinary studies were conducted on the brain and other tissues of patients who died with the antemortem diagnosis of mucopolysaccharidosis (MPS) of one of the following types; type V, Scheie disease (MPS-V); type I, Hurler disease (MPS-I): and type II, Hunter disease (MPS-II). The principal new finding in the brain of the patient with MPS-V is the presence of lesions in the periadventitial mesenchymal tissue of the white matter, similar to those of MPS-I, while the nerve cells in MPS-V are histologically normal, in contradistinction to MPS-I, in which the neuronal abnormality is severe. Electron microscopical studies of the brain in MPS-I demonstrated numerous complex membranous inclusions in the neurons, whereas the neurons in MPS-V contained only a small number of lipofuscin-like inclusions and typical lipofuscin granules. There was a threefold increase of glycosaminoglycans (GAG) in the brain of MPS-I, but only a slight increase in the MPS-V; GAG in the liver and spleen of all patients was noticeably increased. alpha-L-iduronidase activity was not detectable in the brain and liver of patients with MPS-I and MPS-V, thus suggesting a similar enzymatic defect.