Kusunose Y, Yamada M, Ohta T, Kashiwamura K, Tsutsumi C, Nakamura Y, Ishihara T, Kamei T
No To Shinkei. 1984 Oct;36(10):969-73.
Skin biopsy of a patient with Lafora disease was performed. The specimen showed numerous PAS-positive materials in the eccrine glands as proposed by Carpenter and Karpati. The patient was a 25-year-old man, and his two brothers and sister were diagnosed as Lafora disease by clinical and autopsy findings. The patient has shown typical clinical course of Lafora disease. Light microscopic findings of the skin revealed 5-7 microns oval or round PAS-positive materials in most of the glandular cells in eccrine glands. Several histochemical stainings were applied to the specimens so that the storage materials in the glandular cells were considered as glucose-polymer (polyglucosan). Electronmicroscopic observation showed the materials adjacent to the nucleus without limiting membrane. The materials were composed of numerous glycogen-like particles associated with a small number of fine filaments and vesicles. It have been not clarified why these materials are present in the sweat glands in Lafora disease. Recently skin biopsies have been underwent in patients of storage disease involving the central nervous system. Especially it is much useful for diagnosis of the disease with no reliable enzymatic assays. Pathogenesis of Lafora disease is still unknown. Therefore, skin biopsy might be convenient to differentiate from other types of myoclonus epilepsy.
对一名拉福拉病患者进行了皮肤活检。标本显示，如卡彭特和卡尔帕蒂所指出的，在小汗腺中有大量过碘酸雪夫（PAS）阳性物质。该患者为一名25岁男性，他的两个兄弟和一个姐妹经临床和尸检结果诊断为拉福拉病。该患者呈现出典型的拉福拉病临床病程。皮肤的光镜检查结果显示，在小汗腺的大多数腺细胞中有5 - 7微米的椭圆形或圆形PAS阳性物质。对标本进行了几种组织化学染色，结果表明腺细胞中的储存物质被认为是葡萄糖聚合物（多聚葡萄糖）。电镜观察显示这些物质位于细胞核附近，无界膜。这些物质由大量类似糖原的颗粒组成，并伴有少量细丝和小泡。目前尚不清楚为什么这些物质会出现在拉福拉病患者的汗腺中。最近，对涉及中枢神经系统的储存疾病患者进行了皮肤活检。特别是对于没有可靠酶学检测方法的疾病诊断，皮肤活检非常有用。拉福拉病的发病机制仍然未知。因此，皮肤活检可能便于与其他类型的肌阵挛性癫痫相鉴别。
