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Two children with both arm ischemia and arterial ischemic stroke during the perinatal period

Marilyn J McKasson1, Meredith R Golomb

  • 1Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Journal of Child Neurology
|August 25, 2011
PubMed

Insights

Perinatal arterial ischemic stroke affecting both limbs and the brain is rare. This study highlights two cases with a specific gene variant, emphasizing diagnostic and treatment strategies for similar pediatric cases.

Area of Science:

  • Pediatric Neurology
  • Vascular Biology
  • Genetics

Background:

  • Perinatal arterial ischemic stroke (AIS) is a significant cause of childhood neurological disability.
  • Simultaneous occurrence of limb ischemia and AIS in the perinatal period is exceptionally rare.

Observation:

  • Two neonates presented with emboli affecting an upper limb and the middle cerebral artery territory.
  • One infant required limb amputation, while the other needed skin grafts for ischemic digits.
  • Both children were homozygous for the methylenetetrahydrofolate reductase (MTHFR) C677T gene variant.

Findings:

  • Literature review identified eight additional cases of perinatal limb ischemia and stroke.
  • Delayed diagnosis of perinatal stroke was noted in several reviewed cases.
  • The presented cases underscore the association between MTHFR C677T variant and combined limb and cerebral ischemia.

Implications:

  • Early recognition and diagnosis of perinatal AIS are crucial for timely intervention.
  • Genetic screening, particularly for MTHFR variants, may aid in identifying at-risk neonates.
  • Developing standardized diagnostic and treatment protocols is essential for managing these complex pediatric cases.

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