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要約 目的:中隔視神経形成異常症/De Morsier症候群は,正中脳構造の異常に眼症状や下垂体機能低下症を伴う稀な先天異常である。今回,無自覚性の同名半盲の発見を契機として同疾患と診断した1例を経験したので報告する。
症例:38歳,女性。生来健康で発達遅滞や知的障害はない。前医で眼内レンズの挿入術を受けようとした際,術前検査で同名半盲が認められたため,精査目的で東海大学医学部付属病院に紹介され受診となった。視野障害に対する自覚症状は全くなく,日常生活にも支障をきたしていない様子などから先天性疾患が疑われた。矯正視力は両眼とも1.2で,Goldmann視野計検査では明瞭な同名半盲を認めた。光干渉断層計では半盲に一致するように黄斑に局所的な網膜神経節細胞複合体の菲薄化が同名性にみられ,内分泌検査では甲状腺刺激ホルモンの低下を認めた。頭部MRIでは占拠性病変や脳梗塞巣はみられなかったが,視交叉低形成や右鳥距溝の低形成を認めた。また,MRトラクトグラフィでは視放線の線維密度に左右差もみられ,以上の所見から中隔視神経形成異常症/De Morsier症候群と考えられた。
結論:先天性同名半盲を契機に発見された中隔視神経形成異常症/De Morsier症候群の1例を経験した。中隔視神経形成異常症は小児期での診断例が多いが,重症度には差があることが知られており,本症例は軽症例と考えられた。自覚症状のない同名半盲は先天性の可能性を考慮し,同疾患を鑑別に含めたうえで精査を行っていく必要があると思われた。
Abstract Purpose:Septo-optic dysplasia(SOD)/De Morsier syndrome is a rare congenital disorder associated with ocular symptoms, hypopituitarism, and abnormalities in the median mesencephalic structures. This report presents a case of SOD diagnosed based on the presence of an unrecognized homonymous hemianopsia.
Case:A 38-year-old healthy woman with no developmental delay or mental retardation was referred to our hospital for further examination of homonymous hemianopia. This condition was discovered during a pre-operative examination conducted before intraocular contact lens insertion surgery at another hospital. No subjective symptom of visual field defects or difficulty in daily life was reported;therefore, a congenital disease was suspected. The corrected visual acuity was 1.2 in both eyes. Goldmann visual field test revealed clear homonymous hemianopsia. Optical coherence tomography revealed homonymous focal thinning of the ganglion cell layer in the macula, consistent with the diagnosis of hemianopsia. Endocrine examination revealed decreased thyroid stimulating hormone levels.
Magnetic resonance(MR) imaging of the head revealed no occupying lesions or cerebral infarcts;however, hypoplasia of the optic chiasm and right calcarine sulcus were observed. MR tractography revealed a difference between the right and left hemianopia in terms of the density of fibers in the occipitothalamic region, suggesting the presence of SOD.
Conclusion:Herein, SOD was detected based on the presence of congenital homonymous hemianopsia. SOD is often diagnosed during childhood;however, the severity of the disease varies. This case was considered mild. The possibility of congenital disease must be considered in patients with hemianopsia without subjective symptoms;SOD must be considered as a differential diagnosis for further investigation.

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