Rare Diseases Symptoms Automatic Extraction

Atypical focal cortical dysplasia in a patient with Cowden syndrome.

[cowden syndrome]

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.

Diseases presenting "cortical dysplasia" symptom

  • alexander disease
  • cowden syndrome
  • kabuki syndrome
  • monosomy 21
  • pyruvate dehydrogenase deficiency

This symptom has already been validated