Cochius J, Carpenter S, Andermann E, Rouleau G, Nousiainen U, Kalviainen R, Farrell K, Andermann F
Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Neurology. 1994 Dec;44(12):2372-5. doi: 10.1212/wnl.44.12.2372.
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.
在Unverricht-Lundborg病（ULD）患者中，尚未有中枢神经系统以外的病理异常报告。我们报告了7例ULD患者中的5例以及1名临床未受影响的同胞的外分泌透明细胞和暗细胞中存在内容物清晰的膜结合空泡。在2例患者以及8例拉福拉病对照者的活检组织中未发现空泡。这些发现虽然并非完全特异，但表明皮肤活检可能有助于为ULD提供支持性诊断证据。
