SULFATIDE LIPIDOSIS
\sˈʌlfɐtˌa͡ɪd lˌɪpɪdˈə͡ʊsɪs], \sˈʌlfɐtˌaɪd lˌɪpɪdˈəʊsɪs], \s_ˈʌ_l_f_ɐ_t_ˌaɪ_d l_ˌɪ_p_ɪ_d_ˈəʊ_s_ɪ_s]\
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An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5)
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