A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine
Abstract Background This case report presents the case of a patient with P369S and R408Q variants in the MEFV gene who exhibited clinical features of Kikuchi disease and Mollaret meningitis. Furthermore, it discusses colchicine as a new potential treatment option for Kikuchi disease-associated menin...
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BMC
2024-11-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-024-03950-3 |
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| author | Hideo Handa Atsuhiko Sugiyama Hitoshi Kubosawa Yuki Nakagawa Dai Kishida Akiyuki Uzawa Akiyo Aotsuka Satoshi Kuwabara |
| author_facet | Hideo Handa Atsuhiko Sugiyama Hitoshi Kubosawa Yuki Nakagawa Dai Kishida Akiyuki Uzawa Akiyo Aotsuka Satoshi Kuwabara |
| author_sort | Hideo Handa |
| collection | DOAJ |
| description | Abstract Background This case report presents the case of a patient with P369S and R408Q variants in the MEFV gene who exhibited clinical features of Kikuchi disease and Mollaret meningitis. Furthermore, it discusses colchicine as a new potential treatment option for Kikuchi disease-associated meningitis. Case presentation A 41-year-old Japanese woman presented with fever and headache. She had nuchal rigidity and bilateral cervical lymphadenopathies. Her past medical history included multiple episodes of aseptic meningitis and cervical lymphadenopathy for more than twenty years. Lumbar puncture showed increased lymphocytes and IL-6 level and pathognomonic Mollaret cells. Excisional lymph node biopsy revealed histiocytic necrotizing lymphadenitis, confirming the diagnosis of Kikuchi disease. Subsequently, her recurrent Kikuchi disease and meningitis were successfully treated with colchicine. Furthermore, genetic analysis of the MEFV gene revealed heterozygous P369S/R408Q variants in exon 3. Conclusion Mollaret meningitis can be associated with Kikuchi disease, and recurrence of both conditions may be suppressed by colchicine when these two coexist. |
| format | Article |
| id | doaj-art-14b12d56711c426b9b9ab45a662ec1d7 |
| institution | Kabale University |
| issn | 1471-2377 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj-art-14b12d56711c426b9b9ab45a662ec1d72024-11-17T12:34:02ZengBMCBMC Neurology1471-23772024-11-012411410.1186/s12883-024-03950-3A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicineHideo Handa0Atsuhiko Sugiyama1Hitoshi Kubosawa2Yuki Nakagawa3Dai Kishida4Akiyuki Uzawa5Akiyo Aotsuka6Satoshi Kuwabara7Department of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Pathology, Chiba Aoba Municipal HospitalDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of MedicineDepartment of Neurology, Graduate School of Medicine, Chiba UniversityDepartment of Neurology, Chiba Aoba Municipal HospitalDepartment of Neurology, Graduate School of Medicine, Chiba UniversityAbstract Background This case report presents the case of a patient with P369S and R408Q variants in the MEFV gene who exhibited clinical features of Kikuchi disease and Mollaret meningitis. Furthermore, it discusses colchicine as a new potential treatment option for Kikuchi disease-associated meningitis. Case presentation A 41-year-old Japanese woman presented with fever and headache. She had nuchal rigidity and bilateral cervical lymphadenopathies. Her past medical history included multiple episodes of aseptic meningitis and cervical lymphadenopathy for more than twenty years. Lumbar puncture showed increased lymphocytes and IL-6 level and pathognomonic Mollaret cells. Excisional lymph node biopsy revealed histiocytic necrotizing lymphadenitis, confirming the diagnosis of Kikuchi disease. Subsequently, her recurrent Kikuchi disease and meningitis were successfully treated with colchicine. Furthermore, genetic analysis of the MEFV gene revealed heterozygous P369S/R408Q variants in exon 3. Conclusion Mollaret meningitis can be associated with Kikuchi disease, and recurrence of both conditions may be suppressed by colchicine when these two coexist.https://doi.org/10.1186/s12883-024-03950-3Kikuchi diseaseMEFVFamilial mediterranean fever (FMF)Colchicine |
| spellingShingle | Hideo Handa Atsuhiko Sugiyama Hitoshi Kubosawa Yuki Nakagawa Dai Kishida Akiyuki Uzawa Akiyo Aotsuka Satoshi Kuwabara A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine BMC Neurology Kikuchi disease MEFV Familial mediterranean fever (FMF) Colchicine |
| title | A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine |
| title_full | A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine |
| title_fullStr | A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine |
| title_full_unstemmed | A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine |
| title_short | A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine |
| title_sort | patient with p369s r408q variants in the mefv gene presented with clinical features of kikuchi disease and mollaret meningitis successfully treated with colchicine |
| topic | Kikuchi disease MEFV Familial mediterranean fever (FMF) Colchicine |
| url | https://doi.org/10.1186/s12883-024-03950-3 |
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