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Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association? / Síndrome antifosfolípide e neurofibromatose tipo I: uma coincidência ou nova associação?
Mbekeani, Joyce N; Galvez-Ruis, Alberto; Nezzar, Hachemi; Conca, Walter; Ahmed, Manzoor.
  • Mbekeani, Joyce N; Jacobi Medical Center. Department of Surgery (Ophthalmology). Bronx. US
  • Galvez-Ruis, Alberto; Cleveland Clinic. Department of Neuro-ophthalmology. Abu Dhabi. AE
  • Nezzar, Hachemi; Université d'Auvergne. Image-Guided Clinical Neurosciences and Connectomics. Clermont-Ferrand. FR
  • Conca, Walter; King Faisal Specialist Hospital & Research Center. Department of Rheumatology. Riyadh. SA
  • Ahmed, Manzoor; Sheikh Khalifa Hospital. Department of Neuro-radiology. Abu Dhabi. AE
Arq. bras. oftalmol ; 82(2): 155-157, Mar.-Apr. 2019. tab
Article in English | LILACS | ID: biblio-989400
ABSTRACT
ABSTRACT - Numerous studies have reported on structural vascular anomalies and ischemia associated with neurofibromatosis type 1 that are thought to stem from dysfunction of neurofibromin, the neurofibromatosis type 1 protein. Documented cases of associated antiphospholipid syndrome fulfilling the accepted diagnostic criteria are exceptionally rare, with only three cases reported in the literature. Here, we report on a patient with neurofibromatosis type 1 and a history of spontaneous abortions presenting with sudden vision loss in the right eye and swelling of the optic nerve head. Fluorescein angiography indicated anterior ischemic optic neuropathy. Brain magnetic resonance imaging revealed findings consistent with left cavernous sinus meningioma. Serologic testing demonstrated persistently elevated anti-b2-glycoprotein antibodies. Her findings suggested antiphospholipid syndrome with concomitant clinical and laboratory evidence of antiphospholipid syndrome frequent abortions, a vaso-occlusive episode, and persistently elevated antiphospholipid syndrome antibodies. To our knowledge, this case represents the first neuro-ophthalmic manifestation of antiphospholipid syndrome associated with neurofibromatosis type 1.
RESUMO
RESUMO - Inúmeros estudos têm relatado anomalias vasculares estruturais e isquemia associada com à neurofibromatose tipo 1 que, acredita-se, resultam da disfunção da neurofibromina, a proteína tipo 1 da neurofibromatose. Casos documentados de síndrome antifosfolípide associada que atendem aos critérios diagnósticos aceitos são excepcionalmente raros, com apenas três casos relatados na literatura. Aqui, relatamos um paciente com neurofibromatose tipo 1 e histórico de abortos espontâneos apresentando perda repentina de visão no olho direito e edema de cabeça do nervo óptico. A angiofluoresceínografia indicou neuropatia óptica isquêmica anterior. Ressonância magnética cerebral revelou achados compatíveis com meningioma do seio cavernoso esquerdo. O teste sorológico demonstrou anticorpos anti-b2 glicoproteína persistentemente elevados. Seus achados sugerem síndrome antifosfolípide com evidências clínicas e laboratoriais concomitantes de síndrome antifosfolipídica abortos frequentes, episódio vaso-oclusivo e anticorpos antifosfolípides persistentemente elevados. Pelo nosso conhecimento, este caso pode representar a primeira manifestação neuro-oftálmica da síndrome antifosfolípide associada à neurofibromatose tipo 1.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Antiphospholipid Syndrome / Neurofibromatosis 1 Type of study: Diagnostic study / Etiology study / Risk factors Limits: Adult / Female / Humans Language: English Journal: Arq. bras. oftalmol Journal subject: Ophthalmology Year: 2019 Type: Article Affiliation country: France / Saudi Arabia / United Arab Emirates / United States Institution/Affiliation country: Cleveland Clinic/AE / Jacobi Medical Center/US / King Faisal Specialist Hospital & Research Center/SA / Sheikh Khalifa Hospital/AE / Université d'Auvergne/FR

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Full text: Available Index: LILACS (Americas) Main subject: Antiphospholipid Syndrome / Neurofibromatosis 1 Type of study: Diagnostic study / Etiology study / Risk factors Limits: Adult / Female / Humans Language: English Journal: Arq. bras. oftalmol Journal subject: Ophthalmology Year: 2019 Type: Article Affiliation country: France / Saudi Arabia / United Arab Emirates / United States Institution/Affiliation country: Cleveland Clinic/AE / Jacobi Medical Center/US / King Faisal Specialist Hospital & Research Center/SA / Sheikh Khalifa Hospital/AE / Université d'Auvergne/FR