肌肉、周围神经与皮肤病理检查对儿童神经肌肉病的诊断价值

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。

Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders

Objective To elicit the usefulness of muscle, sural nerve and skin biopsies in neuromuscular disease, including its diagnostic value and indications for biopsy.Method The authors retrospectively evaluated the clinical data of every patient who underwent muscle, sural nerve and/or skin biopsy in the department between January 1999 and December 2004.Result One hundred and two patients with the suspected neuromuscular diseases were included. Muscle disease or hereditary metabolic/degenerative diseases with muscular injury were suspected in 82 patients, specific or typical histological findings confirmed diagnosis in 33 of these patients. The diagnosis included muscular dystrophies in 13 patients; inflammatory myopathies in 4 patients; congenital centronuclear myopathies in 2 patients; vacuole myopathy in 1 patient; mitochondrial myopathies in 8 patients; lipid storage myopathy in 1 patient; glycogenosis in 1 patient; spinal muscular atrophy in 3 patients. Nonspecific changes were seen in 25 patients, and in 24 patients nothing abnormal was revealed. Neuropathy or hereditary metabolic/degenerative diseases with peripheral nerve injury were suspected in 23 patients, specific or typical histological findings confirmed diagnosis in 10 of these patients, including hereditary motor and sensory neuropathy in 9 patients and metachromatic leukodystrophy with peripheral nerve abnormality in 1 patient. Nonspecific changes were seen in 11 patients and 2 patients had normal sural nerve. Skin biopsies were performed in 8 patients, specific or typical histological findings confirmed diagnosis in 4 of these patients. The diagnosis included neuronal ceroid lipofuscinosis in 2 patients, infantile axonal dystrophy in 1 patient, vacuole lysosomal disease in 1 patient, and 4 patients had normal skin biopsy.Conclusion Muscle, sural nerve and skin biopsies play an important role in diagnosis of childhood neuromuscular disease, and should be done only in carefully selected cases after thorough clinical work-up. Muscle biopsy is essential for diagnosis of congenital and metabolic myopathies. Typical pathologic alterations of sural nerve have diagnostic value for hereditary neuropathies. Skin biopsy should be performed to verify neuronal ceroid lipofuscinosis.