DIFFUSE GLOBOID BODY SCLEROSIS
\dɪfjˈuːz ɡlˈɒbɔ͡ɪd bˈɒdi skləɹˈə͡ʊsɪs], \dɪfjˈuːz ɡlˈɒbɔɪd bˈɒdi skləɹˈəʊsɪs], \d_ɪ_f_j_ˈuː_z ɡ_l_ˈɒ_b_ɔɪ_d b_ˈɒ_d_i s_k_l_ə_ɹ_ˈəʊ_s_ɪ_s]\
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An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous sytem there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation, MUSCLE SPASTICITY, and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes, Textbook of Child Neurology, 5th ed, pp195-7)
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Word of the day
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].
Nearby Words
- diffuse disease
- diffuse epithelioma
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- Diffuse Globoid Body Sclerosis
- diffuse histiocytic lymphoma
- diffuse histiocytic lymphomas
- diffuse idiopathic skeletal hyperostosis
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