Ikeda S, Ushiyama M, Nakano T, Kikkawa T, Kondo K, Yanagisawa N
Acta Pathol Jpn. 1986 Dec;36(12):1823-31. doi: 10.1111/j.1440-1827.1986.tb02246.x.
We report the ultrastructural findings in rectal and skin biopsies in four cases with adult GM1-gangliosidosis. The rectal specimens taken under endoscopic control contained submucosal plexuses, which were easily identified on light-microscopic and electron-microscopic examination. In all cases the ganglion cells in submucosal plexus contained characteristic osmiophilic lamellar inclusions, some of which were typical membranous cytoplasmic bodies, were commonly observed in the ganglion cells, Schwann's cells, vascular endothelial cells, and perithelial cells in rectal biopsy, and membrane-bound clear vacuoles were occasionally seen in the cytoplasm of rectal and cutaneous fibroblasts. However, the axons of unmyelinated nerves in both biopsies showed a normal appearance, and there was no significant change in the eccrine glands in skin biopsy. Comparing rectal and skin biopsies, the former was found to be more valuable for morphological diagnosis of this disease, and our ultrastructural examination of rectal biopsy revealed that enteric nerve cells were involved even in adult GM1-gangliosidosis with a benign course and restricted cerebral lesions.
我们报告了4例成年GM1神经节苷脂贮积症患者直肠和皮肤活检的超微结构结果。在内镜控制下获取的直肠标本包含黏膜下神经丛，在光学显微镜和电子显微镜检查中很容易识别。在所有病例中，黏膜下神经丛中的神经节细胞含有特征性的嗜锇层状包涵体，其中一些是典型的膜性细胞质体，在直肠活检的神经节细胞、施万细胞、血管内皮细胞和周皮细胞中普遍观察到，并且在直肠和皮肤成纤维细胞的细胞质中偶尔可见膜结合的透明空泡。然而，两种活检中无髓神经的轴突外观正常，皮肤活检中的外分泌腺无明显变化。比较直肠和皮肤活检，发现前者对该疾病的形态学诊断更有价值，我们对直肠活检的超微结构检查显示，即使是病程良性且脑部病变局限的成年GM1神经节苷脂贮积症患者，肠神经细胞也会受累。
