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Childhood stroke associated with protein C or S deficiency and primary antiphospholipid syndrome
Insights
Primary antiphospholipid syndrome can cause recurrent cerebral infarctions in children, potentially linked to protein C or S deficiencies. Treatment with aspirin and prednisone showed positive outcomes in these cases.
Area of Science:
- Neurology
- Immunology
- Pediatrics
Background:
- Primary antiphospholipid syndrome (APS) is a rare autoimmune disorder characterized by recurrent thrombotic events.
- Cerebral infarction in pediatric patients is uncommon and requires thorough etiological investigation.
Observation:
- Two pediatric patients, aged 22 months and 12 years, presented with recurrent cerebral infarctions.
- Both patients were diagnosed with primary APS.
- The younger patient had protein C deficiency, and the older patient had protein S and complement C4 deficiencies.
Findings:
- Cerebral infarctions in these patients were associated with primary APS and specific protein deficiencies.
- A proposed mechanism involves primary protein deficiency leading to thrombosis, phospholipid exposure, and subsequent antibody generation against the thrombin-thrombomodulin complex.
- Vasculitis was considered a possible contributing factor in one patient.
Implications:
- This case series suggests a potential link between primary protein deficiencies (C or S) and the development of APS-related cerebral thrombosis in children.
- The findings highlight the importance of investigating thrombophilia in pediatric patients with unexplained cerebral infarctions.
- Successful treatment with aspirin and prednisone indicates a potential therapeutic strategy for similar cases.
Abstract:
Two girls, 22 months and 12 years of age, presented with repeated cerebral infarctions in association with primary antiphospholipid syndrome. The younger patient also suffered from protein C deficiency, while the other one had protein S and complement C4 deficiencies. All other causes of cerebral infarction were excluded; however, vasculitis remains a possibility in one patient. Both girls developed spastic tetraparesis as a sequela of the previous infarctions. The two patients were treated with aspirin and prednisone, with remission of the infarctions during the next 8 months of observation. A primary deficiency of protein C or S is proposed which would produce cerebral thrombosis with exposure of phospholipids; this thrombosis then, like antigens, would generate antibodies acting on the thrombin-thrombomodulin complex, exacerbating the thrombotic process. The association of complement C4 deficiency is an additional risk factor.