CEREBROSIDE SULPHATASE DEFICIENCY DISEASE
\səɹˈiːbɹəsˌa͡ɪd sˈʌlfɐtˌe͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \səɹˈiːbɹəsˌaɪd sˈʌlfɐtˌeɪs dɪfˈɪʃənsi dɪzˈiːz], \s_ə_ɹ_ˈiː_b_ɹ_ə_s_ˌaɪ_d s_ˈʌ_l_f_ɐ_t_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
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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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Nearby Words
- cerebrose
- cerebroside
- cerebroside lipidosis syndrome
- cerebroside lipidosis syndromes
- cerebroside sulfatase
- Cerebroside Sulphatase Deficiency Disease
- cerebrosides
- cerebrosids
- cerebrosis
- cerebrospinal
- cerebrospinal axis