{"title":"[一例54岁女性脑膜淀粉样变伴类似脑膜脑炎的表现报告]。","authors":"Naomi Suzuki, Takao Fukushima, Ryota Kishi, Masaki Namekawa, Junsuke Shimbo, Kunihiko Wakaki, Kunihiko Makino","doi":"10.5692/clinicalneurol.cn-002066","DOIUrl":null,"url":null,"abstract":"<p><p>We report a 54-year-old woman previously healthy who developed acute fever, headache, and impaired consciousness. We administered corticosteroid therapy as autoimmune mediated meningoencephalitis, which improved her symptoms and reduced cerebrospinal IL-6 level, but her cognitive impairment persisted. Contrast-enhanced MRI showed diffuse meningeal enhancement lesion, which led us to the possibility of leptomeningeal amyloidosis (LA). We performed transthyretin gene analysis identified heterozygosity for the c.265T>C, p.Y89H (Y69H) variant, which is known as one of the causative mutations of familial LA. Given the responsiveness to steroid treatment, it is possible that the inflammatory pathology related to amyloid deposition in leptomeninges with encephalitis-like symptoms contributed to the prolonged duration of symptoms lasting from hours to days.</p>","PeriodicalId":39292,"journal":{"name":"Clinical Neurology","volume":" ","pages":"516-521"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[A case report of leptomeningeal amyloidosis presenting with meningoencephalitis-resembling manifestations in a 54-year-old woman].\",\"authors\":\"Naomi Suzuki, Takao Fukushima, Ryota Kishi, Masaki Namekawa, Junsuke Shimbo, Kunihiko Wakaki, Kunihiko Makino\",\"doi\":\"10.5692/clinicalneurol.cn-002066\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a 54-year-old woman previously healthy who developed acute fever, headache, and impaired consciousness. We administered corticosteroid therapy as autoimmune mediated meningoencephalitis, which improved her symptoms and reduced cerebrospinal IL-6 level, but her cognitive impairment persisted. Contrast-enhanced MRI showed diffuse meningeal enhancement lesion, which led us to the possibility of leptomeningeal amyloidosis (LA). We performed transthyretin gene analysis identified heterozygosity for the c.265T>C, p.Y89H (Y69H) variant, which is known as one of the causative mutations of familial LA. Given the responsiveness to steroid treatment, it is possible that the inflammatory pathology related to amyloid deposition in leptomeninges with encephalitis-like symptoms contributed to the prolonged duration of symptoms lasting from hours to days.</p>\",\"PeriodicalId\":39292,\"journal\":{\"name\":\"Clinical Neurology\",\"volume\":\" \",\"pages\":\"516-521\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5692/clinicalneurol.cn-002066\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5692/clinicalneurol.cn-002066","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/26 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[A case report of leptomeningeal amyloidosis presenting with meningoencephalitis-resembling manifestations in a 54-year-old woman].
We report a 54-year-old woman previously healthy who developed acute fever, headache, and impaired consciousness. We administered corticosteroid therapy as autoimmune mediated meningoencephalitis, which improved her symptoms and reduced cerebrospinal IL-6 level, but her cognitive impairment persisted. Contrast-enhanced MRI showed diffuse meningeal enhancement lesion, which led us to the possibility of leptomeningeal amyloidosis (LA). We performed transthyretin gene analysis identified heterozygosity for the c.265T>C, p.Y89H (Y69H) variant, which is known as one of the causative mutations of familial LA. Given the responsiveness to steroid treatment, it is possible that the inflammatory pathology related to amyloid deposition in leptomeninges with encephalitis-like symptoms contributed to the prolonged duration of symptoms lasting from hours to days.