Newton G A, Sanchez R L, Swedo J, Smith E B
Department of Pathology, University of Texas Medical Branch, Galveston 77550.
Arch Dermatol. 1987 Dec;123(12):1667-9. doi: 10.1001/archderm.123.12.1667.
Lafora's disease is a neurometabolic disease characterized by progressive myoclonus epilepsy. It is thought to be transmitted by autosomal recessive inheritance. The diagnosis of Lafora's disease is based on both clinical symptomatology and histologic detection of intracytoplasmic periodic acid-Schiff-positive inclusions, termed Lafora bodies. Despite the absence of cutaneous clinical findings, typical inclusions are present in eccrine duct cells and peripheral nerve of skin biopsies. By electron microscopy, the inclusions are electron-lucent and contain glycogenlike granules and filamentous material. Skin biopsy is a convenient and the least invasive method of establishing the diagnosis of Lafora's disease.
拉福拉病是一种以进行性肌阵挛癫痫为特征的神经代谢疾病。它被认为是通过常染色体隐性遗传传播的。拉福拉病的诊断基于临床症状以及对胞质内过碘酸希夫阳性包涵体（即拉福拉小体）的组织学检测。尽管没有皮肤临床表现，但在皮肤活检的外分泌导管细胞和外周神经中存在典型的包涵体。通过电子显微镜观察，这些包涵体电子密度低，含有类糖原颗粒和丝状物质。皮肤活检是诊断拉福拉病的一种方便且侵入性最小的方法。
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