SWEAT GLAND VACUOLES IN UNVERRICHT-LUNDBORG DISEASE - A CLUE TO DIAGNOSIS

被引:15
作者
COCHIUS, J
CARPENTER, S
ANDERMANN, E
ROULEAU, G
NOUSIAINEN, U
KALVIAINEN, R
FARRELL, K
ANDERMANN, F
机构
[1] MCGILL UNIV, DEPT NEUROL & NEUROSURG, MONTREAL, PQ, CANADA
[2] MCGILL UNIV, CTR RES NEUROSCI, MONTREAL H3A 2T5, PQ, CANADA
[3] MONTREAL NEUROL INST, MONTREAL, PQ, CANADA
[4] MONTREAL GEN HOSP, MONTREAL H3G 1A4, PQ, CANADA
[5] MCGILL UNIV, DEPT HUMAN GENET, MONTREAL, PQ, CANADA
[6] UNIV KUOPIO, DEPT NEUROL, KUOPIO, FINLAND
[7] UNIV BRITISH COLUMBIA, DEPT PEDIAT, VANCOUVER V6T 1W5, BC, CANADA
关键词
D O I
10.1212/WNL.44.12.2372
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
There has been no reported pathologic abnormality outside the central nervous system in patients with Unverricht-Lundborg disease (ULD). We report membrane-bound vacuoles with clear contents in eccrine clear cells and dark cells in five of seven patients with ULD, as well as in one clinically unaffected sibling. Vacuoles were not seen in the biopsies of two patients and of eight controls with Lafora's disease. These findings, though not entirely specific, suggest that skin biopsy may serve as a diagnostic aid to give supportive evidence for ULD.
引用
收藏
页码:2372 / 2375
页数:4
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