脳炎様症状で発症した遺伝性ATTRアミロイドーシスの54歳女性例
症例は54歳女性．発熱，意識障害を呈し，自己免疫性脳炎としてステロイド治療を施行し，熱型，意識障害の改善，脳脊髄髄液IL6低下を認めたが，高次脳機能障害が遷延した．造影MRIで広範な髄膜増強効果を認めた点から髄膜アミロイドーシス（leptomeningeal amyloidosis，以下LAと略記）を鑑別に挙げ，トランスサイレチン遺伝子検査を施行しY69H（p.Y89H）変異を認めたため，LAと診断した．本例ではステロイド治療に対する脳炎様症状の改善，脳脊髄液IL-6値の低下が認められたことから，脳炎様症状を呈するLAではアミロイド沈着に対する炎症の病態が時間単位～日単位の長時間の症状の持続に...
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| Published in | 臨床神経学 Vol. 65; no. 7; pp. 516 - 521 |
|---|---|
| Main Authors | , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2025
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-002066 |
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| Abstract | 症例は54歳女性．発熱，意識障害を呈し，自己免疫性脳炎としてステロイド治療を施行し，熱型，意識障害の改善，脳脊髄髄液IL6低下を認めたが，高次脳機能障害が遷延した．造影MRIで広範な髄膜増強効果を認めた点から髄膜アミロイドーシス（leptomeningeal amyloidosis，以下LAと略記）を鑑別に挙げ，トランスサイレチン遺伝子検査を施行しY69H（p.Y89H）変異を認めたため，LAと診断した．本例ではステロイド治療に対する脳炎様症状の改善，脳脊髄液IL-6値の低下が認められたことから，脳炎様症状を呈するLAではアミロイド沈着に対する炎症の病態が時間単位～日単位の長時間の症状の持続につながった可能性が考えられた． |
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| AbstractList | 症例は54歳女性．発熱，意識障害を呈し，自己免疫性脳炎としてステロイド治療を施行し，熱型，意識障害の改善，脳脊髄髄液IL6低下を認めたが，高次脳機能障害が遷延した．造影MRIで広範な髄膜増強効果を認めた点から髄膜アミロイドーシス（leptomeningeal amyloidosis，以下LAと略記）を鑑別に挙げ，トランスサイレチン遺伝子検査を施行しY69H（p.Y89H）変異を認めたため，LAと診断した．本例ではステロイド治療に対する脳炎様症状の改善，脳脊髄液IL-6値の低下が認められたことから，脳炎様症状を呈するLAではアミロイド沈着に対する炎症の病態が時間単位～日単位の長時間の症状の持続につながった可能性が考えられた． |
| Author | 鈴木 奈穂美 滑川 将気 新保 淳輔 牧野 邦比古 岸 諒太 福島 隆男 若木 邦彦 |
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| References | 1) Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057-1062. 15) Azevedo EP, Guimaraes-Costa AB, Bandeira-Melo C, et al. Inflammatory profiling of patients with familial amyloid polyneuropathy. BMC Neurol 2019;19:146. 18) Maia LF, Magalhães R, Freitas J, et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86:159-167. 11) Lee WJ, Lee ST, Moon J, et al. Tocilizumab in autoimmune encephalitis refractory to rituximab: an institutional cohort study. Neurotherapeutics 2016;13:824-832. 21) Smith EE, Charidimou A, Ayata C, et al. Cerebral amyloid angiopathy-related transient focal neurologic episodes. Neurology 2021;97:231-238. 3) Purrucker JC, Hund E, Hinderhofer K, et al. Doxycycline in ATTRY69H (p.ATTRY89H) amyloidosis with predominant leptomeningeal manifestation. Amyloid 2013;20:279-280. 8) Ziskin JL, Greicius MD, Zhu W, et al. Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 2015;3:43. 4) Yamada Y, Fukushima T, Kodama S, et al. A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 2019;26:251-252. 9) Beckius S, Shah K. Intracranial and systemic manifestations of familial leptomeningeal amyloidosis, as seen on CT and MRI. Radiol Case Rep 2018;13:1179-1184. 13) 中田遼志，寺澤由佳，佐藤健朗ら．病初期の発作頻度増加に伴い髄液IL-6上昇を認めたcryptogenic new-onset refractory status epilepticus（NORSE）の1例．臨床神経 2023;63:843-846. 10) Cechin L, Gasmelseed J, Bashford J, et al. Early-onset leptomeningeal manifestation of G47R hereditary transthyretin amyloidosis. Neurology Clinical Practice 2021;11:e757-e759. 12) 浜田恭輔，武井藍，崎山佑介ら．広範な脳萎縮と髄液IL-6上昇を伴いインフリキシマブを使用した慢性進行型神経ベーチェット病の1例．臨床神経 2018;58:30-34. 22) 塚本剛士，梶川駿介，人見健文ら．急性外傷性脳損傷後に時定数2秒の頭皮上脳波で皮質拡散脱分極（cortical spreading depolarizations;CSD）が記録された1例．臨床神経 2020;60:473-478. 6) Qin Q, Wei C, Piao Y, et al. Current review of leptomeningeal amyloidosis associated with transthyretin mutations. Neurologist 2021;26:189-195. 17) Dowell JD, Fleck JD, Vakili ST, et al. Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS. Neurology 2007;68:77-78. 7) Carberry N, Yu S, Fayerman RN, et al. Leptomeningeal disease secondary to Thr60Ala transthyretin amyloidosis: case report and review of the literature. Neurohospitalist 2023;13:90-95. 20) Charidimou A, Law R, Werring DJ. Amyloid “spells” trouble. Lancet 2012;380:1620. 5) 齋藤奈つみ，黒羽泰子，長谷川有香ら．転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H) 変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例．臨床神経 2023;63:650-655. 19) Sekijima Y, Yazaki M, Oguchi K, et al. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology 2016;87:773-781. 2) Schweitzer K, Ehmann D, Garcia R, et al. Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. Can J Ophthalmol 2009;44:317-319. 14) Plantone D, Primiano G, Righi D, et al. Current evidence supporting the role of immune response in ATTRv amyloidosis. Cells 2023;12:2383. 16) Yeh SJ, Yeh TY, Wang YS, et al. Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis. Ann Clin Transl Neurol 2024;11:30-44. |
| References_xml | – reference: 14) Plantone D, Primiano G, Righi D, et al. Current evidence supporting the role of immune response in ATTRv amyloidosis. Cells 2023;12:2383. – reference: 13) 中田遼志，寺澤由佳，佐藤健朗ら．病初期の発作頻度増加に伴い髄液IL-6上昇を認めたcryptogenic new-onset refractory status epilepticus（NORSE）の1例．臨床神経 2023;63:843-846. – reference: 16) Yeh SJ, Yeh TY, Wang YS, et al. Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis. Ann Clin Transl Neurol 2024;11:30-44. – reference: 15) Azevedo EP, Guimaraes-Costa AB, Bandeira-Melo C, et al. Inflammatory profiling of patients with familial amyloid polyneuropathy. BMC Neurol 2019;19:146. – reference: 1) Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 2005;62:1057-1062. – reference: 21) Smith EE, Charidimou A, Ayata C, et al. Cerebral amyloid angiopathy-related transient focal neurologic episodes. Neurology 2021;97:231-238. – reference: 10) Cechin L, Gasmelseed J, Bashford J, et al. Early-onset leptomeningeal manifestation of G47R hereditary transthyretin amyloidosis. Neurology Clinical Practice 2021;11:e757-e759. – reference: 22) 塚本剛士，梶川駿介，人見健文ら．急性外傷性脳損傷後に時定数2秒の頭皮上脳波で皮質拡散脱分極（cortical spreading depolarizations;CSD）が記録された1例．臨床神経 2020;60:473-478. – reference: 8) Ziskin JL, Greicius MD, Zhu W, et al. Neuropathologic analysis of Tyr69His TTR variant meningovascular amyloidosis with dementia. Acta Neuropathologica Communications 2015;3:43. – reference: 11) Lee WJ, Lee ST, Moon J, et al. Tocilizumab in autoimmune encephalitis refractory to rituximab: an institutional cohort study. Neurotherapeutics 2016;13:824-832. – reference: 3) Purrucker JC, Hund E, Hinderhofer K, et al. Doxycycline in ATTRY69H (p.ATTRY89H) amyloidosis with predominant leptomeningeal manifestation. Amyloid 2013;20:279-280. – reference: 9) Beckius S, Shah K. Intracranial and systemic manifestations of familial leptomeningeal amyloidosis, as seen on CT and MRI. Radiol Case Rep 2018;13:1179-1184. – reference: 5) 齋藤奈つみ，黒羽泰子，長谷川有香ら．転倒発作と反復する一過性の言語障害を呈したY69H (p.Y89H) 変異型遺伝性トランスサイレチン髄膜アミロイドーシスの1例．臨床神経 2023;63:650-655. – reference: 12) 浜田恭輔，武井藍，崎山佑介ら．広範な脳萎縮と髄液IL-6上昇を伴いインフリキシマブを使用した慢性進行型神経ベーチェット病の1例．臨床神経 2018;58:30-34. – reference: 18) Maia LF, Magalhães R, Freitas J, et al. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J Neurol Neurosurg Psychiatry 2015;86:159-167. – reference: 7) Carberry N, Yu S, Fayerman RN, et al. Leptomeningeal disease secondary to Thr60Ala transthyretin amyloidosis: case report and review of the literature. Neurohospitalist 2023;13:90-95. – reference: 17) Dowell JD, Fleck JD, Vakili ST, et al. Familial oculoleptomeningeal amyloidosis associated with primary angiitis of the CNS. Neurology 2007;68:77-78. – reference: 6) Qin Q, Wei C, Piao Y, et al. Current review of leptomeningeal amyloidosis associated with transthyretin mutations. Neurologist 2021;26:189-195. – reference: 20) Charidimou A, Law R, Werring DJ. Amyloid “spells” trouble. Lancet 2012;380:1620. – reference: 2) Schweitzer K, Ehmann D, Garcia R, et al. Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His. Can J Ophthalmol 2009;44:317-319. – reference: 19) Sekijima Y, Yazaki M, Oguchi K, et al. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology 2016;87:773-781. – reference: 4) Yamada Y, Fukushima T, Kodama S, et al. A case of cerebral amyloid angiopathy-type hereditary ATTR amyloidosis with Y69H (p.Y89H) variant displaying transient focal neurological episodes as the main symptom. Amyloid 2019;26:251-252. |
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| Snippet | 症例は54歳女性．発熱，意識障害を呈し，自己免疫性脳炎としてステロイド治療を施行し，熱型，意識障害の改善，脳脊髄髄液IL6低下を認めたが，高次脳機能障害が遷延した．... |
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| SubjectTerms | TFNEs Y69H変異 トランスサイレチンアミロイドーシス 髄膜アミロイドーシス 髄膜脳炎 |
| Title | 脳炎様症状で発症した遺伝性ATTRアミロイドーシスの54歳女性例 |
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