Okuma Y, Tanaka S, Nomura Y, Mori H, Yan H, Shirai T, Kondo T, Segawa M, Mizuno Y
Department of Internal Medicine, Juntendo University Urayasu Hospital, Tokyo.
No To Shinkei. 1996 Mar;48(3):287-97.
We report a 63-year-old woman who presented myotonia and parkinsonism. The patient was well until 15 years of the age when she noted that the ring finger of her left hand at times flexed when she did not intend to do so. She noted weakness in her left upper extremity at the age of 40, and difficulty in relaxing her hand grip at 45. She had an onset of tremor in her right foot at age 50, which was followed by difficulty in gait and hand writing. She was admitted to Juntendo University Urayasu Hospital when she was 63-year-old. Her mother, two sisters, and a son were affected with similar muscle weakness and myotonia. Although some of them developed stooped posture in the late stage of the disease, none of them had overt parkinsonism. General physical examination was unremarkable. Neurologic examination revealed an alert and oriented woman with some recent memory loss. She had bilateral ptosis, facial weakness, and a masked face. Myerson's sign was present. Her speech was small and monotonous. The sternocleidomastoid muscles were markedly atrophic and weak. The remaining of the cranial nerves were intact. She walked in small steps with freezing with support. She showed bradykinesia, retropulsion, and resting tremor in her right leg. Slight distal dominant weakness was noted in both upper and lower extremities more on the left. No cerebellar signs were noted. Muscle stretch reflexes were within normal limits in the upper extremities and diminished in the lower limbs. Sensation was intact. Routine laboratory findings were unremarkable. Cranial CT scan and MRI revealed slight cortical atrophy and leukoaraiosis. She responded to levodopa and she became able to walk by herself. She was transferred to another hospital one month after her admission. She had several bouts of airway obstruction with one episode of respiratory arrest. She expired six month after the transfer. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that this patient suffered from myotonic dystrophy and Parkinson's disease which set in later years. Postmortem examination on the iliopsoas muscle revealed uneven muscle fiber diameters, central nuclei, and type 1 fiber predominance; the pathologic finding was consistent with myotonic dystrophy. The substantia nigra showed marked cell loss and Lewy bodies in the remaining neurons. The finding was consistent with Parkinson's disease. In myelin stain, diffuse myelin pallor was noted in the cerebral white matter which was the pathologic substrate of leukoaraiosis in this patient. Combination of these two disorders have never been reported in the literature to our knowledge. It appears to be that the coincidence is just a by-chance phenomenon, but it seems interesting to note that accelerated aging process appears to be present in both myotonic dystrophy and Parkinson's disease.
我们报告了一名出现肌强直和帕金森综合征的63岁女性。该患者在15岁之前情况良好，当时她注意到自己左手的无名指有时会在她并无此意时弯曲。她在40岁时注意到左上肢无力，45岁时出现手部抓握放松困难。她在50岁时右脚开始出现震颤，随后出现步态和书写困难。她63岁时入住顺天堂大学浦安医院。她的母亲、两个姐妹和一个儿子都患有类似的肌肉无力和肌强直。尽管他们中的一些人在疾病后期出现了驼背姿势，但他们都没有明显的帕金森综合征。全身体格检查无异常。神经系统检查发现该女性警觉且定向力正常，但近期有一些记忆力减退。她有双侧上睑下垂、面部无力和面具脸。存在Myerson征。她的言语微弱且单调。胸锁乳突肌明显萎缩且无力。其余颅神经均完整。她小步走路并有冻结现象，需要支撑。她表现出右下肢运动迟缓、后冲和静止性震颤。双上肢和双下肢均有轻度远端为主的无力，左侧更明显。未发现小脑体征。上肢肌肉牵张反射在正常范围内，下肢则减弱。感觉正常。常规实验室检查结果无异常。头颅CT扫描和MRI显示轻度皮质萎缩和脑白质疏松。她对左旋多巴有反应，并且能够自行行走。入院一个月后她转至另一家医院。她有几次气道阻塞发作，其中一次呼吸骤停。转院六个月后她去世。该病例在一次神经科临床病理讨论会上进行了讨论，主要讨论者得出结论，该患者患有强直性肌营养不良和晚年出现的帕金森病。对髂腰肌进行尸检发现肌纤维直径不均、中央核以及1型纤维占优势；病理结果与强直性肌营养不良一致。黑质显示明显的细胞丢失，剩余神经元中有路易小体。这一发现与帕金森病一致。在髓鞘染色中，在脑白质中发现弥漫性髓鞘苍白，这是该患者脑白质疏松的病理基础。据我们所知，这两种疾病的组合在文献中从未有过报道。这似乎只是一种偶然巧合的现象，但值得注意的是，强直性肌营养不良和帕金森病似乎都存在加速衰老的过程，这一点似乎很有趣。
