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目的 报道2例新生儿型神经轴索营养不良(INAD)的神经末梢和骨骼肌的病理改变特点。方法 2例患者均为男性,年龄分别为3岁及2岁,均于1岁左右出现智力和运动发育落后或倒退,头颅磁共振成像(MRI)均示小脑萎缩。肌电图提示骨骼肌神经源性损害。例1进行左侧腓肠神经、肌肉和皮肤活检,例2进行左小腿皮肤和肌肉活检,标本进行光镜和电镜检查。结果 2例患者皮下神经末梢均可见椭圆体状巨大轴索,其内充满空泡或致密物质。例1腓肠神经偶见小的致密轴索。例2的骨骼肌间小神经发现异常巨大轴索。两例骨骼肌均存在神经源性病理改变。电镜发现巨大轴索内存在颗粒样物质或空泡膜管样结构。结论 出现中枢神经系统、周围神经系统以及视神经的广泛受累提示INAD的可能性,而脑外病理检查发现神经末梢出现椭圆体样巨大轴索可以确诊该病。巨大轴索内的成分具有不同的超微结构特点。显著的皮肤神经末梢损害提示此病存在小纤维性周围神经病。
Objective To report the pathological changes of nerve endings and skeletal muscle in 2 cases of neonatal axonal dystrophy (INAD). Methods Two patients were male and their age was 3 years and 2 years respectively. All of them had backward or backward mental and motor development at 1 year old. Cerebellar atrophy was showed on MRI. Electromyography suggests skeletal muscle neurogenic damage. Example 1 The left sural nerve, muscle and skin biopsies were performed. In Example 2, the left calf skin and muscle biopsies were taken and the specimens were examined by light and electron microscopy. Results Both subcutaneous nerve endings in 2 patients showed massive ellipsoidal axons filled with vacuoles or dense substances. Example 1 sural nerve occasionally see a small dense axon. Example 2 of the skeletal small nerves found abnormal giant axons. Two cases of skeletal muscle neuropathic pathological changes exist. Electron microscopy found that there is a giant axon particle-like material or vacuole tube-like structure. Conclusions The wide involvement of the central nervous system, peripheral nervous system and optic nerve suggests the possibility of INAD. However, the pathological examination of extracerebral brain shows that there is a huge axon-like axis in the nerve endings to diagnose the disease. The composition of the giant axons has different ultrastructural features. Significant damage to cutaneous nerve endings suggests the presence of fibrillary peripheral neuropathy.