常染色体显性遗传性进行性眼外肌瘫痪一个家系的症状发展规律

Autosomal dominant progressive external ophthalmoplegia,development of clinical symptoms in a Chinese family

目的报道一个常染色体显性遗传性进行性眼外肌瘫痪家系的临床症状发展规律。方法分析了该家系连续5代共20例患者的症状发展过程,并对先证者和其他4例患者分别进行了肌肉病理和肌电图检查。结果先证者为57岁女性,30岁出现双眼睑下垂,35岁出现眼外肌瘫痪,37岁出现四肢力弱,47岁出现延髓部症状,有时出现心悸。20例患者发病年龄在26～33岁之间,男女均累及,均以双眼睑下垂为首发症状;在35～45岁之间15例中12例出现眼球活动障碍,14例出现四肢无力;在44～60岁之间9例全部出现面肌或咀嚼肌无力,其中8例出现吞咽障碍;50岁后7例中4例出现心脏损害并导致死亡。肌电图检查均提示骨骼肌存在肌源性损害。肌肉活检发现不整红边纤维、细胞色素氧化酶阴性肌纤维和琥珀酸脱氢酶染色的不整蓝边纤维。结论常染色体显性遗传性进行性眼外肌瘫痪的临床表现从眼外肌开始,逐渐累及四肢肌肉,而后损害面部和延髓部肌肉,晚期出现心脏损害并导致部分患者死亡。症状的发展规律提示应当在疾病后期关注其心脏损害的表现。

Objective To report the development of clinical symptoms in a Chinese family with autosomal dominant progressive external ophthalmoplegia （adPEO）. Methods Electromyologram and muscle biopsy were performed in the proband and 4 family members with the disease. Results The proband was a 57 year-old woman, who developed bilateral ptosis after the age of 30, external ophthalmoplegia after the age of 35 years old,weakness of extremities at the age of 37 years old and bulb palsy with palmus at the age of 47 years old. In the family there were 20 male and female members from five generations. All of them complained about bilateral ptosis between 26-33 years old, external ophthalmoplegia （12/15） and weakness of all extremities （14/15） between 35-45, facial and masticatory weakness （9/9） as well as dysphagia （8/9） between 44-60, accompanied with heart lesions （4/7） after 50 years old. Some patients died due to cardiac impairment. Electromyologram showed myopathic abnormalities in the examined patients. The main myopathological changes were ragged red fibers, cytochrome c oxidase negative fibers and ragged blue fibers in succinate dehydrogenase staining. Conclusions The adPEO started from extra-ocular muscles to limbs, finally facial and bulbar muscles. Heart lesions were presented in late stage and lead to death in some members. The developing process of symptoms suggested that we should pay more attention to cardiac manifestations in dais disease.