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目的探讨肌肉、周围神经与皮肤活检在儿童神经肌肉病诊断中的价值。方法对1999年1月至2004年12月在我科接受肌肉、周围神经与皮肤活检术患儿的临床资料进行回顾性分析。结果102例患儿中82例接受肌肉活检,33例明确诊断,包括肌营养不良13例,炎症性肌肉病4例,先天性中央核肌肉病2例,空泡性肌肉病1例,线粒体肌肉病8例,脂肪累积性肌肉病1例,糖原累积性肌肉病1例,脊肌萎缩症3例。25例为非特异肌肉病理改变。24例肌肉活检未见异常。23例接受腓肠神经活检,9例诊断为遗传性运动感觉神经病,1例为异染性脑白质营养不良伴周围神经受累,11例为非特异性周围神经髓鞘或轴索病变,2例未见异常。8例接受皮肤活检,2例诊断为神经元蜡样质脂褐质沉积症,1例为婴儿神经轴索营养不良,1例为空泡性溶酶体病,4例皮肤活检未见异常。结论肌肉、周围神经与皮肤活检对明确儿童神经肌肉病的诊断具有重要价值。
Objective To investigate the value of muscle, peripheral nerve and skin biopsy in the diagnosis of neuromuscular disease in children. Methods The clinical data of children with muscle, peripheral nerve and skin biopsy in our department from January 1999 to December 2004 were analyzed retrospectively. Results Of 102 children, 82 received muscle biopsy and 33 had definite diagnosis including 13 cases of muscular dystrophy, 4 inflammatory muscle disease, 2 congenital central nuclear muscle disease, 1 vacuolar muscle disease, mitochondrial muscle 8 cases of disease, 1 case of cumulative fat muscle disease, 1 case of glycogen cumulative muscle disease, 3 cases of spinal muscular atrophy. Twenty-five cases were nonspecific muscle pathological changes. 24 cases of muscle biopsy showed no abnormalities. Of the 23 patients who underwent sural nerve biopsy, 9 were diagnosed as hereditary motor-sensory neuropathy, 1 was metachromatic leukodystrophy with peripheral nerve involvement, 11 were nonspecific peripheral myelin sheaths or axonal lesions and 2 did not See abnormalities. Eight patients underwent skin biopsy, two were diagnosed as neuronal waxy lipofuscinosis, one was neurotrophic neurotrophoblastic in infancy, one was vacuolar lysosomal disease and four had no abnormalities in skin biopsies. Conclusion Muscle, peripheral nerve and skin biopsy have important value in the diagnosis of neuromuscular disease in children.