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An unusual cause of cerebral venous thrombosis in a four-year-old child
Insights
Inherited protein S deficiency may increase stroke risk in children. A 4-year-old boy with cerebral venous thrombosis had this deficiency, suggesting a link between trauma, protein S deficiency, and clot formation.
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Inherited protein S deficiency is linked to a higher risk of thromboembolic disease.
- Coagulopathies like protein S deficiency may predispose children to strokes by promoting clot formation.
Observation:
- A previously healthy 4-year-old boy experienced cerebral venous thrombosis following minor head trauma.
- Plasma analysis revealed a significant reduction in the active form of protein S.
- Family investigations identified similar protein S abnormalities in his paternal relatives.
Findings:
- The child's cerebral venous thrombosis was likely triggered by minor head trauma.
- Pathological thrombus formation was exacerbated by inherited protein S deficiency.
Implications:
- This case expands the known clinical manifestations of protein S deficiency.
- Family screening is crucial for diagnosing protein S deficiency and guiding treatment.
Background And Purpose:
Inherited protein S deficiency has been associated with an increased risk of thromboembolic disease. It is possible that such a coagulopathy could predispose children to the development of strokes by permitting clot formation in response to stimuli that ordinarily would be insufficient to cause thrombus formation.
Case Description:
We evaluated a previously well 4-year-old boy who developed cerebral venous thrombosis after suffering minor head trauma. Crossed-immunoelectrophoresis of his plasma showed a marked decrease of the free, active form of protein S. Family studies revealed that the patient's father and other paternal relatives had a similar abnormality of protein S.
Conclusions:
We suggest that the cerebral venous thrombosis in this child was initially precipitated by minor head trauma and pathological thrombus formation was then potentiated by inherited protein S deficiency. This case extends the clinical spectrum for protein S deficiency and emphasizes the importance of evaluating family members to establish a specific diagnosis and therapeutic intervention.