Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas

Anna Brzezinski1, Vincent B Cruz2, Richard A Prayson3

  • 1Department of Anatomic Pathology, L25, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

Insights

This case study details a 6-month-old infant experiencing severe seizures, multiple hemangiomas, and developmental delays. Surgical interventions revealed focal cortical dysplasia, a condition linked to cutaneous hemangiomas.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Pathology

Background:

  • Focal cortical dysplasia (FCD) is a significant cause of intractable epilepsy in children.
  • Congenital hemangiomas are benign vascular tumors that can present at birth.
  • The co-occurrence of FCD and multiple congenital hemangiomas is rare, posing diagnostic and therapeutic challenges.

Observation:

  • A 6-month-old female infant presented with medically intractable seizures.
  • The infant also exhibited multiple congenital hemangiomas and global developmental delay.
  • Diagnostic workup included neuroimaging and subsequent surgical interventions.

Findings:

  • Two surgical resections were performed.
  • Pathological examination of resected tissue confirmed focal cortical dysplasia in both instances.
  • The findings suggest a potential association between focal cortical dysplasia and cutaneous hemangiomas.

Implications:

  • This case highlights a rare presentation of focal cortical dysplasia.
  • Understanding the link between FCD and hemangiomas may improve diagnostic accuracy and treatment strategies for affected children.
  • Further research is warranted to elucidate the underlying pathophysiology of this association.

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