Childhood stroke associated with familial protein S deficiency

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P Simioni1, P A Battistella, P Drigo

  • 1Institute of Medical Semeiotics, University of Padua Medical School, Italy.

Brain & Development
|May 1, 1994
PubMed

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.

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