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)