Takeda K, Kawai M, Sakuta M, Takemura T
Rinsho Shinkeigaku. 1989 May;29(5):643-6.
A 41-year-old female of mitochondrial myopathy characterized by recurrent paralytic ileus and atonic bladder with the evidence of peripheral nerve involvement was described. This patient was admitted to our hospital because of the episode of paralytic ileus and atonic bladder at the age of 40 and 41 (1987). She had noticed sporadic headache from 1967, constipation from 1977, tinnitus and hearing disturbance from 1984. One month after her second admission in 1987, her symptoms of paralytic ileus and atonic bladder gradually disappeared. She was then transferred to the department of neurology for the evaluation of underlining neurological disorders. Neurological examination revealed dementia, oro-lingual dyskinesia, and proximal muscular weakness. However, none of the following signs or symptoms were observed; Ophthalmoplegia, blepharoptosis, retinitis pigmentosa, myoclonus, cerebellar ataxia, sensory disturbance, and orthostatic hypotension. Deep tendon reflexes were normal. Planter responses were flexor. Pyruvate and lactate were elevated in both serum and cerebrospinal fluid. Brain CT scan displayed moderate cerebral atrophy and basal ganglia calcifications. EMG was normal except for the external anal sphincter muscles which showed a denervation pattern. Motor nerve conduction velocity was normal in the right median and the right peroneal nerves. Sensory nerve conduction velocity was also normal in the right median and the right sural nerves. However, the amplitude of sensory potential was low in both these nerves. Atonic type of neurogenic bladder was noted on cystometry. There was a lack of voiding desire. The number of active sweat glands iontophoretically stimulated by pilocarpine was reduced. The most prominent feature of the muscle biopsy (the left biceps brachii) was myopathic changes with ragged-red fibers.(ABSTRACT TRUNCATED AT 250 WORDS)
报告了一名41岁线粒体肌病女性患者，其特征为反复出现麻痹性肠梗阻和无张力膀胱，并伴有周围神经受累证据。该患者于1987年40岁和41岁时因麻痹性肠梗阻和无张力膀胱发作入院。她自1967年起出现散发性头痛，1977年起便秘，1984年起耳鸣和听力障碍。1987年第二次入院一个月后，她的麻痹性肠梗阻和无张力膀胱症状逐渐消失。随后她被转至神经科以评估潜在的神经系统疾病。神经检查发现痴呆、口-舌运动障碍和近端肌无力。然而，未观察到以下任何体征或症状：眼肌麻痹、上睑下垂、色素性视网膜炎、肌阵挛、小脑共济失调、感觉障碍和体位性低血压。深腱反射正常。跖反射为屈性。血清和脑脊液中的丙酮酸和乳酸水平升高。脑部CT扫描显示中度脑萎缩和基底节钙化。肌电图除肛门外括约肌显示失神经模式外均正常。右侧正中神经和右侧腓总神经的运动神经传导速度正常。右侧正中神经和右侧腓肠神经的感觉神经传导速度也正常。然而，这两根神经的感觉电位幅度均较低。膀胱测压显示为无张力型神经源性膀胱。缺乏排尿欲望。毛果芸香碱离子电渗刺激的活跃汗腺数量减少。肌肉活检（左肱二头肌）最显著的特征是出现伴有破碎红纤维的肌病改变。（摘要截选于250词）
