Blake D Colman, Eliot D Smolyansky, Hemant A Parmar, Pratheepan Puvanakumar, Rogan G Fraser, Prashanth Ramachandran, Shivanand Sheth, Neil Shuey, Subahari Raviskanthan
{"title":"一名 VEXAS(空泡、E1 酶、X-连锁、自身炎症、体质)综合征患者的眼眶炎症表现。","authors":"Blake D Colman, Eliot D Smolyansky, Hemant A Parmar, Pratheepan Puvanakumar, Rogan G Fraser, Prashanth Ramachandran, Shivanand Sheth, Neil Shuey, Subahari Raviskanthan","doi":"10.1097/WNO.0000000000002270","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>An 84-year-old man with a genetically confirmed diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome treated with tocilizumab reported with a 3-day history of left eye pain, conjunctival chemosis and injection, and horizontal binocular diplopia. Examination revealed restriction of left eye ductions in all directions with mild unilateral proptosis. MRI of his brain and orbits demonstrated abnormal enhancement of the left posterior sclera and intraorbital optic nerve sheath, without involvement of the extraocular muscles, cavernous sinus, or optic nerve parenchyma. B-scan ultrasonography heralded a positive \"T-sign.\" Empiric treatment with high-dose intravenous methylprednisolone led to rapid clinical improvement. Workup for alternative causes was unremarkable. Oral prednisone dose and tocilizumab ultimately resulted in complete resolution after 4 weeks. The final diagnosis was consistent with orbital inflammatory manifestations of VEXAS syndrome.</p>","PeriodicalId":16485,"journal":{"name":"Journal of Neuro-Ophthalmology","volume":" ","pages":""},"PeriodicalIF":2.0000,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Orbital Inflammatory Manifestations in a Patient With VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome.\",\"authors\":\"Blake D Colman, Eliot D Smolyansky, Hemant A Parmar, Pratheepan Puvanakumar, Rogan G Fraser, Prashanth Ramachandran, Shivanand Sheth, Neil Shuey, Subahari Raviskanthan\",\"doi\":\"10.1097/WNO.0000000000002270\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Abstract: </strong>An 84-year-old man with a genetically confirmed diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome treated with tocilizumab reported with a 3-day history of left eye pain, conjunctival chemosis and injection, and horizontal binocular diplopia. Examination revealed restriction of left eye ductions in all directions with mild unilateral proptosis. MRI of his brain and orbits demonstrated abnormal enhancement of the left posterior sclera and intraorbital optic nerve sheath, without involvement of the extraocular muscles, cavernous sinus, or optic nerve parenchyma. B-scan ultrasonography heralded a positive \\\"T-sign.\\\" Empiric treatment with high-dose intravenous methylprednisolone led to rapid clinical improvement. Workup for alternative causes was unremarkable. Oral prednisone dose and tocilizumab ultimately resulted in complete resolution after 4 weeks. The final diagnosis was consistent with orbital inflammatory manifestations of VEXAS syndrome.</p>\",\"PeriodicalId\":16485,\"journal\":{\"name\":\"Journal of Neuro-Ophthalmology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-11-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neuro-Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/WNO.0000000000002270\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neuro-Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/WNO.0000000000002270","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Orbital Inflammatory Manifestations in a Patient With VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome.
Abstract: An 84-year-old man with a genetically confirmed diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome treated with tocilizumab reported with a 3-day history of left eye pain, conjunctival chemosis and injection, and horizontal binocular diplopia. Examination revealed restriction of left eye ductions in all directions with mild unilateral proptosis. MRI of his brain and orbits demonstrated abnormal enhancement of the left posterior sclera and intraorbital optic nerve sheath, without involvement of the extraocular muscles, cavernous sinus, or optic nerve parenchyma. B-scan ultrasonography heralded a positive "T-sign." Empiric treatment with high-dose intravenous methylprednisolone led to rapid clinical improvement. Workup for alternative causes was unremarkable. Oral prednisone dose and tocilizumab ultimately resulted in complete resolution after 4 weeks. The final diagnosis was consistent with orbital inflammatory manifestations of VEXAS syndrome.
期刊介绍:
The Journal of Neuro-Ophthalmology (JNO) is the official journal of the North American Neuro-Ophthalmology Society (NANOS). It is a quarterly, peer-reviewed journal that publishes original and commissioned articles related to neuro-ophthalmology.