Lafora disease: a report of five cases diagnosed by skin biopsy
- VernacularTitle:经皮肤活体组织检查确诊的Lafora病五例
- Author:
Yuwei DA
;
Yan LU
;
Yueshan PIAO
;
Aihua LIU
;
Dehong LU
;
Yuping WANG
;
Min WANG
;
Min XU
;
Lu LIU
;
Jianping JIA
- Publication Type:Journal Article
- Keywords:
Lafora disease;
Biopsy
- From:
Chinese Journal of Neurology
2008;41(7):468-470
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestions, pathological features and diagnosing methods of Lafora disease. Methods The chnical and pathological features of 5 patients with Lafora disease who were diagnosed by axillary biopsies were systemically studied. The specimen were stained by HE, PAS and AB-PAS methods. Results Four of 5 cases had an onset during adolescence and 1 during adulthood. All cases presented with progressive generalized tonic-clonic seizure, myoclonus and dementia. Emotional disturbance, dysarthria and ataxia appeared in the early course of the disease. Lafora bodys were identified in myoepithelial cells and duct cells of both eccrine sweat glands and apecrine sweat glands in the biopsies of axillary skin. Conclusions Lafora disease could be confirmed by round and oval periodic acid-Schiff- positive inclusions in skin biopsy specimen combined with the proper clinical settings. Both axillary and other skins can be chosen as the sites of biopsy.
