Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35‑year‑old woman: A case report and genetic study on the pedigree

  • Authors:
    • Pingping Li
    • Chao Qin
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  • Published online on: July 25, 2018     https://doi.org/10.3892/etm.2018.6518
  • Pages: 2677-2681
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Abstract

Deficiency of protein C may cause deep venous thrombosis and pulmonary embolism, leading to ischemic stroke. The present study reports on a case of a young adult with recurrent cerebellar infarction due to hereditary heterozygous protein C deficiency and performs a literature review. A 35‑year‑old Asian woman was admitted t o the Department of Neurology of The First Affiliated Hospital of Guangxi Medical University (Nanning, China) due to right limb paralysis and vomiting. The diagnosis of stroke was confirmed by computed tomography and magnetic resonance imaging, which indicated acute cerebral infarction of the right cerebellar hemisphere and cerebellar vermis, as well as a previous cerebral infarction on the left cerebellar hemisphere. This patient had taken aspirin orally for 4 years following surgical therapy for small intestine thrombosis and was regularly taking hydroxychloroquine sulfate to treat systemic lupus erythematosus. The protein C (PROC) levels were 57.6%, while protein S and antithrombin levels were normal. Gene sequencing analysis of the patient and the patient's pedigree revealed a heterozygous mutation, c.565C>T, on the PROC gene in the patient and the patient's father. In conclusion, the clinical manifestations of hereditary PROC deficiency may vary between individuals. The heterozygous mutation locus c.565C>T on the PROC gene is associated with thrombophilia. Awareness of the association between natural anticoagulants and thrombophilia may promote the prevention and therapy of stroke.
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September-2018
Volume 16 Issue 3

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Li P and Li P: Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35‑year‑old woman: A case report and genetic study on the pedigree. Exp Ther Med 16: 2677-2681, 2018
APA
Li, P., & Li, P. (2018). Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35‑year‑old woman: A case report and genetic study on the pedigree. Experimental and Therapeutic Medicine, 16, 2677-2681. https://doi.org/10.3892/etm.2018.6518
MLA
Li, P., Qin, C."Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35‑year‑old woman: A case report and genetic study on the pedigree". Experimental and Therapeutic Medicine 16.3 (2018): 2677-2681.
Chicago
Li, P., Qin, C."Recurrent cerebellar infarction associated with hereditary heterozygous protein C deficiency in a 35‑year‑old woman: A case report and genetic study on the pedigree". Experimental and Therapeutic Medicine 16, no. 3 (2018): 2677-2681. https://doi.org/10.3892/etm.2018.6518