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Pediatric Stroke Associated With a Rare Pathogenic PKP2 Variant: A Diagnostic Challenge.

Alaa Salman1, Mohamed O E Babiker1, Maria Khan2,3

  • 1Pediatric Neurology, Al Jalila Children's Specialty Hospital, Dubai, ARE.

Cureus
|March 2, 2026
PubMed
Summary

Pediatric ischemic stroke, though rare in the cerebellum, can be challenging to diagnose. Genetic testing identified a PKP2 variant, highlighting its potential role in unexplained pediatric stroke cases.

Keywords:
arrhythmogenic right ventricular dysplasiadiagnostic and therapeutic challengegenetic diagnosispediatric strokepkp2 variantplakophilin-2 (pkp2) mutation

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