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Cerebral venous sinus thrombosis in the patient with multiple sclerosis associated with congenital antithrombin
Yuhei Kanaya1, Kazuhiro Takamatsu, Yutaka Shimoe
1Department of Neurology, and Department of Radiology, Brain Attack Center Ota Memorial Hospital.
Abstract:
We report the case of a 25-year-old man with multiple sclerosis (MS) who had severe headache and unconsciousness. He suffered from optic neuritis that had started at age 6. From the age of 12 years, he had suffered from multiple sclerosis (MS) cerebral lesions that relapsed three times over for 5 years. At age 25, he showed a new lesion in the cerebellar cortex, suggesting an exacerbation of the MS. However, magnetic resonance imaging findings the next day showed cerebral venous sinus thrombosis. His laboratory findings showed low antithrombin activity. Genetic analysis revealed a single-base substitution (C>T) at the codon 359 (Arg to STOP) in the 5th exon portion of the antithrombin gene, heterozygote. In the literature review, 17 cases of multiple sclerosis associated with cerebral venous sinus thrombosis, which occurred after the lumbar puncture and the treatment with high-dose methylpredonisolone in 11 of these cases. In our case, antithrombin deficiency, hyperhomocystinemia, infection, and lumbar puncture were suggested as the risk factors.
Insights
This case study highlights a young man with multiple sclerosis who developed cerebral venous sinus thrombosis. Genetic analysis revealed a rare antithrombin deficiency, a potential risk factor for thrombosis in MS patients.
Area of Science:
- Neurology
- Genetics
- Hematology
Background:
- Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
- Cerebral venous sinus thrombosis (CVST) is a rare but serious complication that can occur in MS patients.
- Antithrombin deficiency is a genetic condition predisposing individuals to thrombotic events.
Observation:
- A 25-year-old male with a history of optic neuritis and relapsing-remitting MS presented with severe headache and unconsciousness.
- Initial MRI suggested an MS exacerbation, but subsequent imaging revealed cerebral venous sinus thrombosis.
- Laboratory tests showed low antithrombin activity, and genetic analysis identified a heterozygous mutation in the antithrombin gene.
Findings:
- The patient's presentation of CVST in the context of MS was unusual.
- Genetic analysis confirmed a heterozygous antithrombin gene mutation (C>T at codon 359), indicating a hereditary thrombophilia.
- Literature review identified 17 cases of MS associated with CVST, with several linked to lumbar puncture and methylprednisolone treatment.
Implications:
- This case underscores the importance of considering thrombotic events in MS patients presenting with neurological symptoms, especially those with risk factors.
- Antithrombin deficiency may represent an underrecognized risk factor for CVST in multiple sclerosis.
- Further research is warranted to elucidate the complex interplay between MS, genetic thrombophilias, and treatment modalities in the development of CVST.
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