METACHROMATIC LEUKODYSTROPHY
\mˌɛtət͡ʃɹə͡ʊmˈatɪk lˈuːkədˌɪstɹəfi], \mˌɛtətʃɹəʊmˈatɪk lˈuːkədˌɪstɹəfi], \m_ˌɛ_t_ə_tʃ_ɹ_əʊ_m_ˈa_t_ɪ_k l_ˈuː_k_ə_d_ˌɪ_s_t_ɹ_ə_f_i]\
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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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