马德拉斯运动神经元病的临床特点分析

The Clinical Features of Madras motor neuron disease

目的探讨马德拉斯运动神经元病(Madras motor neuron disease,MMND)患者的诊断要点、鉴别诊断及治疗方法,提高对MMND认识。方法回顾性分析3例MMND患者的临床资料,与国外MMND患者在临床特点上进行比较,并复习相关文献。结果本组3例患者均中青年起病,主要的临床表现为多组脑神经支配肌受损和肢体的无力、萎缩。其中双侧面肌无力和萎缩、构音障碍最为常见,2例出现舌肌萎缩及震颤,1例有吞咽困难。肢体无力和萎缩上肢较下肢常见。所有患者均有上运动神经元损害的体征。血清肌酸激酶增高1例。肌电图均表现为广泛神经源性损害。临床上MMND应与肌萎缩侧索硬化、肯尼迪病、Brown-Vialetto-van Laere综合征等相鉴别。静脉注射丙种球蛋白可能对MMND有一定疗效。与国外患者相比,本组患者以对称的面肌无力起病较常见而无听力损害。结论 MMND通常表现为累及四肢、面部及球部肌肉的无力萎缩、锥体束征和听力损害。我国MMND患者与国外患者在某些临床表现上略有差别。

ObjectiveTo describe the clinical features, differential diagnosis and therapeutic method of Madras motor neuron disease（MMND） to improve the understanding of MMND.MethodsWe retrospectively summarized the clinical data of 3 MMND patients. and conducted the related literature review to compare the similarities and differences on clinical features between our cases and foreign MMND patients.ResultsPatients in the present study were adult-onset without definite family history. The main manifestations were multiple lower cranial nerve palsies along with weakness and wasting of proximal limbs. Bifacial palsy and dysarthria were most presented in patients, while definite hearing impairment was rarely seen. Two patients had fasciculation and atrophy in tongue and one presented with dysphagia. Weakness and atrophy were more frequently presented in upper extremities than in lower limbs. All patients had signs of upper motor neuron damage. The level of creatine kinase（CK） moderately increased in one case. Electromyography（EMG） detected a widespread neuronal damage in all patients. MMND should be differentiated from Amyotrophic Lateral Sclerosis,Kennedy Disease and Brown–Vialetto–van Laere Syndrome. Intravenous immunoglobulin therapy showed effective in some cases to some extent. Compare to foreign MMND patients, bifacial weakness at onset was more frequently presented Conclusion rophy of limbs, involvement of facial and bulbar muscles, pyramidal dysfunction and hearing impairment. Some clinical manifestations of our patients are different from foreign MMND patient.