Matsui M, Shimoizumi H, Kobayashi S
Department of Pediatrics, Tochigi Rehabilitation Center.
No To Hattatsu. 1995 Jul;27(4):303-8.
A 6-year-old boy with hereditary motor and sensory neuropathy (HMSN), congenital cataract and mental retardation was reported. The condition commenced with distal weakness and wasting of lower limbs. Subsequently marked right pes cavus and equinovarus deformity appeared. Motor and sensory conduction velocities in the limbs were slowed. Pathological examination of biopsied sural nerve showed significant loss of large myelinated fibers. Neither demyelination nor onion bulbs were observed. For clinical and neuropathological findings, the present case did not fit in with previously reported cases of HMSN. The case was classified as a new variant of HMSN type II.
报告了一名患有遗传性运动和感觉神经病（HMSN）、先天性白内障及智力发育迟缓的6岁男孩。病情始于下肢远端无力和消瘦。随后出现明显的右足高弓和马蹄内翻畸形。四肢的运动和感觉传导速度减慢。腓肠神经活检的病理检查显示有大量有髓纤维显著丢失。未观察到脱髓鞘和洋葱球样结构。基于临床和神经病理学发现，本病例不符合先前报道的HMSN病例。该病例被归类为II型HMSN的一种新变体。
