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Childhood stroke associated with familial protein S deficiency
P Simioni1, P A Battistella, P Drigo
1Institute of Medical Semeiotics, University of Padua Medical School, Italy.
Insights
Childhood stroke can be linked to inherited protein S (PS) deficiency, a rare blood clotting disorder. This case highlights a 6-year-old
Area of Science:
- Pediatric Neurology
- Hematology
- Genetics
Background:
- Childhood cerebral infarction is uncommon, with many cases being idiopathic.
- Inherited thrombophilia is increasingly recognized as a potential cause of pediatric stroke.
- Protein S (PS) deficiency is a known risk factor for thrombosis.
Observation:
- A 6-year-old child presented with symptoms of ischemic stroke.
- Family studies revealed an inherited defect in protein S (PS).
- Immunological analysis indicated a defect primarily in the free form of PS.
Findings:
- The child's stroke was associated with familial protein S (PS) deficiency.
- No other predisposing factors for stroke were identified.
- Symptoms resolved spontaneously without intervention, and no recurrence was noted at 1-year follow-up.
- Imaging showed a reduction in the cerebral ischemic area within 2 months post-stroke.
Implications:
- Familial protein S (PS) deficiency should be considered in the etiology of childhood ischemic stroke.
- This case suggests that some pediatric strokes may resolve spontaneously despite underlying thrombophilia.
- Further research into the management and long-term outcomes of childhood stroke due to PS deficiency is warranted.
Abstract:
Cerebral infarction is a rare pathology among children and its etiology can be identified in almost two-thirds of cases. The remaining one-third are considered idiopathic. Recently, inherited disorders of blood coagulation predisposing to thrombosis have been taken into account as a possible cause of childhood stroke. We describe here a case of a 6-year-old child presenting with ischemic stroke and protein S (PS) defect. The family study suggested inheritance of the defect. The immunological characterization of PS in the affected family members was consistent with a defect mainly in the free form of PS. In the case here reported no associated predisposing condition to stroke could be identified but familial PS defect was found. No therapy was administered. Nevertheless symptoms disappeared spontaneously and there were no recurrences at the 1 year follow-up. Diagnostic imaging techniques demonstrated that a reduction in the cerebral ischemic area had occurred 2 months after the stroke.