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BRAIN and NERVE Volume 61, Issue 3 （March 2009）

BRAIN and NERVE 61巻3号（2009年3月発行）

Japanese English

症例報告

小脳性運動失調と拡張型心筋症とを伴うミトコンドリアDNA11778番塩基対変異を有するLeber遺伝性視神経症の1例 A Case of Leber's Hereditary Optic Neuropathy with Mitochondrial DNA 11778 Mutation Exhibiting Cerebellar Ataxia,Dilated Cardiomyopathy and Peripheral Neuropathy 渡邉由佳 ¹ , 小鷹昌明 ¹ , 平田幸一 ¹ Yuka Watanabe ¹ , Masaaki Odaka ¹ , Koichi Hirata ¹ ¹獨協医科大学神経内科 ¹Department of Neurology,Dokkyo Medical University キーワード： Leber's hereditary optic neuropathy , cerebellar ataxia , dilated cardiomyopathy , peripheral neuropathy , mitochondrial DNA 11778 mutation Keyword: Leber's hereditary optic neuropathy , cerebellar ataxia , dilated cardiomyopathy , peripheral neuropathy , mitochondrial DNA 11778 mutation pp.309-312

発行日 2009年3月1日 Published Date 2009/3/1

DOI https://doi.org/10.11477/mf.1416100449

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Abstract 文献概要
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参考文献 Reference

はじめに

　Leber遺伝性視神経症（Leber's hereditary optic neuropathy：LHON）は，母系遺伝形式をとる両眼性の急性ないし亜急性視神経症であり，1988年にミトコンドリアDNA（mtDNA）の11778番塩基対の点突然変異が発見されてから，ミトコンドリア脳筋症の1つとして認知されている^1）。LHONに心伝導障害^2）や心筋，骨格筋，外眼筋に異常病理所見^3）を呈することが知られているが，一般的に顕性化することは少ない。その一方で，視神経症に心筋症や不随意運動（振戦，ジストニア，チック，ジストニアを伴うパーキンソニズム），運動失調，末梢神経障害，脊柱後弯，多発性硬化症類似症候などを伴った例が散見され，それらは“LHON-plus”という概念で議論されている^4）。視神経症に加えて，小脳性運動失調と拡張型心筋症，末梢神経障害を伴い11778番塩基の点変異を有した，初めての女性LHONを経験したので報告する。

Abstract

　We report the case of a 28-year-old woman with Leber's hereditary optic neuropathy (LHON) associated with cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy.　She had a mitochondrial DNA point mutation from guanine to adenine at nucleotide position 11778 and developed ataxic gait within 2 years after the onset of bilateral visual loss.　A neurological examination detected horizontal nystagmus, bradylalia, and truncal and bilateral limb ataxia of the cerebellar type.　She could walk, albeit unsteadily.　There was no weakness in her arms and legs.　Tendon jerks were diminished in both the upper arms.　Bilateral knee and ankle jerks were absent, and the plantar responses were neutral.　Paresthesia of the stocking type was present but no reduction of pinprick, position or vibration senses was detected in the paresthetic regions.　Romberg's sign was negative.　Brain MRI showed atrophic changes in both the cerebellar vermis and the hemispheres.　Nerve conduction studies detected mildly decreased motor nerve conduction velocities in the median, ulnar and posterior tibial nerves.　Ultrasound cardiography showed a dilated left ventricle.　It was not possible to clarify the relationship between LHON and cerebellar atrophy, cardiomyopathy, and peripheral neuropathy.　However, physicians, need to be aware that the patients may develop various neurological complications after the onset of optic neuropathy in LHON.

(Received: April 28,2008,Accepted: October 10,2008)