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要約 目的:脊髄小脳失調症6型に対するアセタゾラミドの長期投与後に発症した重症再生不良性貧血の1症例の報告。症例:71歳女性が2時間前に突発した飛蚊症で受診した。15年前に常染色体優性遺伝の脊髄小脳失調症6型と診断され,10年前からアセタゾラミドを内服していた。9年前に両眼に白内障手術を受け,右0.9,左1.0の視力を得た。所見:矯正視力は右0.4,左0.5で,眼振があり,両眼の乳頭周囲に出血と軟性白斑があった。内科での検査で汎血球減少があり,骨髄所見から重症再生不良性貧血と診断された。8か月後に網膜出血が増加し,視力は右0.05,左0.02になった。初診から11か月後に肺炎で死亡した。結論:本症例は,眼所見を契機として重症再生不良性貧血が発見された。原因としてアセタゾラミドの長期内服が関与していた可能性がある。
Abstract. Purpose:To report a case of severe aplastic anemia after long-term systemic treatment with acetazolamide for spinocerebellar ataxia. Case:A 71-year-old female presented with myodesopsia since 2 hours before. She had been diagnosed with spinocerebellar ataxia type 6 15 years before. She had been receiving peroral acetazolamide for 10 years. She underwent cataract surgery 9 years before resulting in visual acuity of 0.9 right and 1.0 left. Findings:Her corrected visual acuity was 0.4 right and 0.5 left. Both eyes showed nystagmus,hemorrhage and soft exudates around the optic disc. Systemic studies showed pancytopenia. Bone marrow findings led to the diagnosis of severe aplastic anemia. Retinal hemorrhage exacerbated 8 months later resulting in visual acuity of 0.05 right and 0.02 left. She passed away due to pneumonia 11 months after her initial visit. Conclusion:The present case is characterized by myodesopsia as the initial manifestation of severe aplastic anemia. Long-term peroral acetazolamide may have been involved as a causative factor of aplastic anemia.
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