| 单词 | Leukodystrophy,Metachromatic |
| 释义 | Leukodystrophy,Metachromatic《英文msh词典》Leukodystrophy,Metachromatic [主题词] Leukodystrophy,Metachromatic [同义词] Arylsulfatase A Deficiency Disease [同义词] Cerebroside Sulphatase Deficiency Disease [同义词] Sulfatidosis [入口词] Deficiency Disease,Arylsulfatase A [入口词] Deficiency Disease,Cerebroside Sulphatase [入口词] Greenfield Disease [入口词] Greenfield's Disease [入口词] Leukodystrophy,Metachromatic,Adult [入口词] Leukodystrophy,Metachromatic,Juvenile [入口词] Leukodystrophy,Metachromatic,Late Infantile [入口词] Leukodystrophy,Metachromatic,Type I [入口词] Leukodystrophy,Metachromatic,Type III [入口词] Sulfatide Lipidosis [入口词] Leukodystrophies,Metachromatic [入口词] Lipidosis,Sulfatide [入口词] Metachromatic Leukodystrophies [入口词] Metachromatic Leukodystrophy [入口词] Sulfatidoses [中文释义] 脑白质营养不良,异染性 [英文释义] 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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