Bornemann A, Hansen F J, Schmalbruch H
Institute of Medical Physiology, University of Erlangen, Germany.
Neuropathol Appl Neurobiol. 1996 Feb;22(1):77-81.
A girl presented at age 8 months with generalized hypotonia and areflexia. The parents were unrelated and without symptoms. At the age of 2 years and 10 months she was able to stand and walk with support. Intellectual development was normal. The mean fibre size in the lateral vastus muscle was normal, the variability was slightly increased. Type I and II fibres tended to be aggregated, but there was no type grouping. Motor and sensory nerve conduction velocities were less than 6 m/s. The sural nerve lacked myelin sheaths, and large non-myelinated axons were surrounded by concentric layers ('onion bulbs') of basal lamina material. The disease was classified as 'autosomal recessive hereditary motor and sensory neuropathy type III(HMSN (III) with basal lamina onion bulbs'. The muscle biopsy findings suggest that congenital amyelination or hypomyelination does not necessarily result in neurogenic atrophy.
一名8个月大的女童出现全身肌张力减退和反射消失。其父母无血缘关系且无相关症状。在2岁10个月时，她能够在支撑下站立和行走。智力发育正常。股外侧肌的平均纤维大小正常，变异性略有增加。I型和II型纤维有聚集倾向，但无纤维类型分组。运动和感觉神经传导速度均小于6米/秒。腓肠神经缺乏髓鞘，大的无髓轴突被基底膜物质的同心层（“洋葱球”）包围。该疾病被归类为“常染色体隐性遗传性运动和感觉神经病III型（伴有基底膜洋葱球的HMSN (III)）”。肌肉活检结果表明，先天性无髓鞘形成或髓鞘形成不足不一定会导致神经源性萎缩。
