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Cerebral infarction in a young adult associated with protein C deficiency. A case report
H Kato1, M Shirahama, K Ohmori
1Department of Internal Medicine, Saga Medical School, Japan.
Insights
Protein C deficiency can cause blood clots, leading to stroke, even in young adults. Early consideration of this deficiency is crucial for patients with a history of clots, family history, or oral contraceptive use.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Protein C deficiency is a known risk factor for thromboembolic disease.
- Venous thrombosis is the typical presentation, while arterial thrombosis, particularly intracranial, is rare.
Observation:
- A 30-year-old man presented with symptoms of a cerebellar infarction, including dysarthria, ataxia, and gait disturbance.
- Imaging confirmed an infarction in the right cerebellar hemisphere and brachium pontis.
- The patient had a history of a transient ischemic attack three months prior.
Findings:
- Protein C antigen levels were 57% and activity was 45% upon admission.
- Protein C deficiency was identified in a family member (uncle).
- Literature review indicated that stroke associated with Protein C deficiency often occurs in individuals with prior vascular events, positive family history, or chronic oral contraceptive use.
Implications:
- Protein C deficiency should be suspected in young patients experiencing stroke.
- Consideration is particularly important for those with a history of vaso-occlusive disease, previous ischemic events, or chronic oral contraceptive use.
- This highlights the importance of genetic screening for thrombophilia in specific patient populations.
Abstract:
Protein C deficiency is a cause of thromboembolic disease. Venous thrombosis is the most common clinical manifestation. Arterial thrombosis is unusual and involvement of the intracranial arteries is especially rare. Herein the authors describe a case of cerebral [correction of cerebellar] infarction associated with protein C deficiency and review the relevant medical literature. A thirty-year-old man was hospitalized because of dysarthria, right limb ataxia, and a gait disturbance. Cranial computed tomography disclosed an infarction in the right cerebellar hemisphere and brachium pontis. Three months earlier the patient had had a transient ischemic attack with truncal ataxia and gait disturbances. On admission, the protein C antigen was 57% and protein C activity was 45%. Investigation of family members revealed protein C deficiency in an uncle. Literature review of stroke cases associated with protein C deficiency revealed that most had had a previous vascular event and/or a positive family history or had used oral contraceptives chronically. Protein C deficiency should be considered in young stroke patients with a positive family history of vaso-occlusive disease, previous ischemic events, or chronic oral contraceptive use.