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目的 探讨儿童腓骨肌萎缩症 (CMT)的临床特征 ,分析神经电生理检测和腓肠神经活检在其诊断和分型中的价值。方法 对 15例CMT患儿的临床特征 ,神经电生理及腓肠神经活检结果进行分析。结果 15例中男 8例 ,女 7例。 15例均表现为慢性进行性双下肢或四肢肌无力和肌萎缩 ,有家族史者 3例。全部病例经神经电生理检查 ,其中 9例行腓肠神经活检 ,确诊为Ⅰ型CMT 8例 :平均起病年龄 2 2岁 ,除l例外 7例四肢受累 ,弓形或内翻足畸形 8例 ,3例合并感觉障碍 ;5例运动神经传导速度减慢 (12～ 38m/s) ;6例腓肠神经活检符合慢性脱髓鞘性周围神经病 (中度 5例 ,重度 1例 ) ,2例有剥洋葱样改变。Ⅱ型 7例 ,平均起病年龄 7岁 ,四肢受累 3例 ,双下肢受累 4例 ,弓形或内翻足畸形 5例 ;7例下肢神经传导检查见复合肌动作电位波幅减低 (0 0 1～ 0 80mV) ,3例腓肠神经活检符合慢性轴索神经病。结论 以慢性进行性双下肢或四肢无力和肌萎缩为主要临床特征的儿童腓骨肌萎缩症分为Ⅰ型 (肥大型 )和Ⅱ型 (轴索型 )两个主要亚型。周围神经电生理检查是诊断和区分不同亚型的可靠方法 ,而腓肠神经活检是进一步明确诊断和分型的客观依据。
Objective To investigate the clinical features of children with Charcot-Marie Tooth Syndrome (CMT) and to analyze the value of neural electrophysiological examination and sural nerve biopsy in the diagnosis and classification. Methods The clinical features, neuroelectrophysiology and sural nerve biopsy results of 15 patients with CMT were analyzed. Results In 15 cases, there were 8 males and 7 females. 15 cases showed chronic progressive lower extremity or limb weakness and muscle atrophy, family history in 3 cases. All cases were examined by nerve electrophysiological examination. Among them, 9 cases had sural nerve biopsy and 8 cases were diagnosed as type Ⅰ CMT: the average age of onset was 22 years old. Except for 1 exception, 7 cases had limb involvement, 8 cases had arched or varus deformity, 3 cases had sensory disturbances; 5 cases of motor nerve conduction slowed down (12 ~ 38m / s); 6 cases of sural nerve biopsies were consistent with chronic demyelinating peripheral neuropathy (5 cases in moderate and 1 case of severe), 2 cases had Peeled onions change. Ⅱ type in 7 cases, the average age of onset of 7 years old, limb involvement in 3 cases, double lower limb involvement in 4 cases, arch or varus foot deformity in 5 cases; 7 cases of lower extremity nerve conduction examination showed reduced amplitude of the composite muscle action potential (0 0 1 ~ 0 80mV), 3 cases of sural nerve biopsy consistent with chronic axial neuropathy. CONCLUSIONS: Charcot-Marie-Tooth dysplasia, a chronic progressive lower extremity or limb weakness and muscular atrophy, is divided into two major subtypes, type I (hypertrophic) and type II (axonal). Peripheral electrophysiological examination is a reliable method to diagnose and distinguish different subtypes. Sural nerve biopsy is an objective basis to further confirm the diagnosis and classification.