ADULT-ONSET METACHROMATIC LEUKODYSTOPHY PRESENTING AS ISOLATED PERIPHERAL NEUROPATHY

被引:32
作者
FRESSINAUD, C
VALLAT, JM
MASSON, M
JAUBERTEAU, MO
BAUMANN, N
HUGON, J
机构
[1] UNIV HOSP LIMOGES, DEPT NEUROL, 2 AVE ALEXIS CARREL, F-87042 LIMOGES, FRANCE
[2] SALPETRIERE HOSP, INSERM, U134, CELLULAR MOLEC & CLIN NEUROBIOL UNIT, PARIS, FRANCE
关键词
D O I
10.1212/WNL.42.7.1396
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A 38-year-old man presented with weakness of the lower limbs. Electrophysiology revealed a pronounced demyelinating neuropathy. Nerve biopsy disclosed de- and remyelinating lesions and characteristic lamellar inclusions in Schwann cells and macrophages. There was no familial history of neurologic disorder, and impairment of motor evoked potentials was the only sign of CNS involvement. Arylsulfatase A and cerebroside sulfate sulfatase activities in leukocytes and cultures of the patient's fibroblasts were low. The sulfatide loading test also revealed abnormal sulfatide accumulation. This may be the first reported case of adult metachromatic leukodystrophy presenting as peripheral neuropathy.
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页码:1396 / 1398
页数:3
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