Lafora病における生検皮膚の形態学的研究

MORPHOLOGICAL STUDY ON BIOPSIED SKIN MATERIALS OF LAFORA DISEASE

　抄録　Lafora病患者の皮膚汗腺上皮内に特有の構造物が沈着していることが確認され，本症の診断が容易になされる可能性が示されてきた。しかしながら，現在までの報告において，本症のように代謝異常が原因と考えられている疾患ではで重要であるにもかかわらず，その沈着物に対する組織化学的検索はほとんどなされていない。このため，本症患者の皮膚生検組織に対して光顕的および電顕的観察を行うとともに，いくつかの紐織化学的染色を施行し，沈着物の化学的性質に検討を加えた。光顕的に汗腺上皮内に多数の5〜7μmの大きさの円形ないし卵円形のPAS陽性の構造物が見出された。電顕上，その構造物は大部分がグリコーゲン様粒子によって構成され，その中に少数の細線維構造を有していた。組織化学的にその構造物はα—アミラーゼでほとんど消化され，β—アミラーゼに抵抗性を示し，ムコ多糖に対する染色に反応しないなどpolyglucosanを考えさせる所見を示した。皮膚生検は本症の診断に有用な方法であるとともに，病態の解明にも役立つ可能性が考えられた。

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 oval or round PAS-positive materials in most of the glandular cells in eccrine glands. Several histochemical stainings were applied to the spe-cimens so that the storage materials in the glan-dular 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 differenciate from other types of myoclonus epilepsy.