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]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
ferdinand gregorovius
- A German historian and poet; born in Neidenburg, East Prussia, Jan. 19, 1821; died at Munich, May 1, 1891. He studied severely Konigsberg home, wrote essays of deep scholarship; "Socialistic Elements Goethe's Wilhelm Meister"; tragedy, "The Death Tiberius", the ripest historical learning; "Corsica"; other most authoritative books travel description, based on close personal study. also "Euphorion", an epic, poems high repute. But his works, unsurpassed learning vivid realization spirit their times, are commanding monument genius. City Rome Middle Ages", "Lucretia Borgia", "Urban VIII"., Monuments Popes", "Athenais", need be named.
Nearby Words
- diffuse disease
- diffuse epithelioma
- diffuse esophageal spasm
- diffuse esophageal spasms
- diffuse ganglion
- Diffuse Globoid Body Sclerosis
- diffuse histiocytic lymphoma
- diffuse histiocytic lymphomas
- diffuse idiopathic skeletal hyperostosis
- diffuse immunoblastic lymphosarcoma
- diffuse immunoblastic lymphosarcomas