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Hemorrhagic stroke in a child with protein S and factor VII deficiencies
Katherine Lietz1, Stephanie E Kuehling, Joan B Parkhurst
1Department of Pediatric Hematology/Oncology, Oklahoma University Health Sciences Center, and Children's Hospital, 940 NE Thirteenth Street, Oklahoma City, OK 73104, USA.
Insights
A young male with a family history of protein S deficiency developed neurological symptoms and stroke due to combined protein S and factor VII deficiencies.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- A 12-year-old male with a family history of protein S deficiency presented with neurological deficits.
- The patient experienced a 10-day febrile illness preceding symptom onset.
Observation:
- Clinical presentation included confusion, aphasia, and right upper extremity weakness.
- Imaging revealed cerebral sinovenous thrombosis and a left parietal hemorrhagic stroke.
Findings:
- Laboratory investigations identified deficiencies in both protein S and factor VII.
- This dual deficiency likely contributed to the thrombotic and hemorrhagic events.
Implications:
- Highlights the importance of considering combined coagulation factor deficiencies in pediatric thrombosis.
- Suggests genetic screening for protein S and factor VII deficiencies in at-risk individuals.
- Underscores the complex interplay between genetic predisposition and acquired factors in cerebrovascular events.
Abstract:
A 12-year-old previously healthy male, with a family history of protein S deficiency, presented with confusion, aphasia, and right upper extremity weakness after a 10-day febrile illness. Imaging studies revealed sinovenous thrombosis and left parietal hemorrhagic stroke. On further investigation he was found to have both protein S and factor VII deficiencies.
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