Marinho Jaqueline Luvisotto, Alonso Nieto José Luis, Calore Edenilson Eduardo
Laboratory of Surgical and Experimental Pathology, Faculdade de Medicina, Universidade de Mogi das Cruzes, São Paulo, Brazil.
Sao Paulo Med J. 2003 Sep 1;121(5):207-9. doi: 10.1590/s1516-31802003000500006. Epub 2003 Nov 5.
Hereditary peripheral neuropathies (hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies) are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy.
The objective of the present work was to describe a case of Dejerine-Sottas disease.
A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed.
遗传性周围神经病（遗传性运动感觉神经病或遗传性脱髓鞘性神经病）是施万细胞及其髓鞘的异常，伴有周围神经功能障碍。它们包括夏科-马里-图斯病、德热里纳-索塔斯病、先天性髓鞘形成不足神经病和易受压性麻痹的遗传性神经病。
本研究的目的是描述1例德热里纳-索塔斯病病例。
一名9岁男孩出现下肢进行性轻度运动功能障碍，尤其是足部，以及全身性反射减退。肌电图显示运动和感觉神经传导速度显著降低。腓肠神经活检显示轴突被薄髓鞘包围，施万细胞的胞质突起呈同心圆排列形成洋葱球。未观察到轴突损伤。
