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[Cerebral infarct as a presentation of a hereditary defect of type II C protein]
A P Sempere1, R Fisac, L Tahoces
1Sección de Neurología, Hospital General de Segovia, Madrid.
Insights
Hereditary protein C deficiency can cause cerebral infarcts in patients under 55. Testing for this deficiency is crucial for individuals with unexplained strokes and a family history of thrombosis.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Cerebral infarcts, or strokes, can have various causes, including thrombotic events.
- Vascular risk factors are commonly associated with stroke, but cryptogenic strokes (those with unknown causes) occur.
- Protein C is a vital anticoagulant protein involved in regulating blood clot formation.
Observation:
- A 50-year-old patient experienced a cerebral infarct without typical vascular risk factors or evidence of cardiogenic embolism.
- Family screening revealed a protein C deficiency in multiple relatives, including a sister with a history of deep vein thrombosis.
- The patient's condition was linked to a hereditary deficiency in protein C.
Findings:
- A confirmed hereditary protein C deficiency was identified as the cause of the patient's cerebral infarct.
- This case highlights a rare but significant genetic predisposition to thrombotic events.
- The absence of other risk factors underscores the importance of genetic screening.
Implications:
- Hypercoagulability studies, including protein C level determination, should be considered for patients under 55 with cryptogenic cerebral infarcts.
- Early diagnosis of hereditary protein C deficiency can enable timely anticoagulation therapy and preventive strategies.
- Identifying genetic thrombophilias is essential for managing stroke risk in affected families.
Abstract:
The case of a 50 year-old patient with a cerebral infarct related to a deficit in type II C protein is described. The patient showed no other vascular risk factor and the cardiological study, which included a transthoracic and a transoesophagic echogram ruled out the presence of embologenic cardiopathy. A family study detected the presence of a deficit of C protein in 6 of the 8 sons and in the patient's sister who had a deep vein thrombosis at the age of 54. A hereditary deficiency in C protein was confirmed. We consider it necessary to perform hypercoagulability studies which include the determination of C protein in patients under 55 years of age with cerebral infarcts of unknown cause, especially when there is a family history of thrombosis.