Atypical focal cortical dysplasia in a patient with Cowden syndrome

Hong Kong Med J. 2014 Apr;20(2):165-7. doi: 10.12809/hkmj133863.

Abstract

A macrocephalic girl presented with generalised epilepsy due to focal cortical dysplasia. She later developed multiple hamartomatous lesions and was diagnosed to have Cowden syndrome. The diagnosis was confirmed by identification of a novel frameshift mutation in the PTEN gene of the patient.

Keywords: Epilepsy; Hamartoma; PTEN phosphohydrolase.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Epilepsy, Generalized / etiology
  • Female
  • Frameshift Mutation
  • Hamartoma Syndrome, Multiple / diagnosis*
  • Hamartoma Syndrome, Multiple / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Malformations of Cortical Development / diagnosis*
  • Malformations of Cortical Development / etiology
  • Megalencephaly / etiology
  • PTEN Phosphohydrolase / genetics

Substances

  • PTEN Phosphohydrolase
  • PTEN protein, human