《英文msh詞典》Krabbe Leukodystrophy
[入口詞] Krabbe Leukodystrophy
[主題詞] Leukodystrophy,Globoid Cell
[英文釋義] 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)