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Novel SERPINC1 Mutation in a Brazilian Patient with Sudden-onset Sagittal Sinus Thrombosis Caused by Congenital Antithrombin Deficiency

Author

Listed:
  • Junji Hiraga

    (Department of Hematology, Toyota Kosei Hospital, Japan)

  • Yasuhiko Harada

    (Department of Hematology, Toyota Kosei Hospital, Japan)

  • Naruko Suzuki

    (Department of Hematology, Toyota Kosei Hospital; Department of Hematology and Oncology, Nagoya University Graduate School of Medicine, Japan)

  • Shogo Tamura

    (Department of Clinical Laboratory Science, Faculty of Health Sciences, Hokkaido University, Japan)

  • Nobuaki Suzuki

    (Department of Transfusion Medicine, Nagoya University Hospital, Japan)

Abstract

A 19-year-old Brazilian man visited the emergency department of our hospital complaining of nausea and fever. He presented with left hemispatial neglect. Magnetic resonance imaging led to a diagnosis of sagittal sinus thrombosis. Blood tests showed decreased antithrombin (ATIII) activity, and ATIII deficiency was diagnosed. He was treated with heparin sodium and warfarin. Genetic counseling through medical interpreters was recommended, and the patient and his mother consented to genetic testing, which revealed a novel mutation variant of the SERPINC1 gene. Genetic counseling is important to connect patients to genetic testing, even if language barriers are present.

Suggested Citation

  • Junji Hiraga & Yasuhiko Harada & Naruko Suzuki & Shogo Tamura & Nobuaki Suzuki, 2024. "Novel SERPINC1 Mutation in a Brazilian Patient with Sudden-onset Sagittal Sinus Thrombosis Caused by Congenital Antithrombin Deficiency," European Journal of Medical and Health Sciences, European Open Science, vol. 6(5), pages 53-56, September.
    • Handle: RePEc:epw:ejmed0:v:6:y:2024:i:5:id:42196
    DOI: 10.24018/ejmed.2024.6.5.2196
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