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

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.