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Case Reports
. 2014 Apr;20(2):165-7.
doi: 10.12809/hkmj133863.

Atypical focal cortical dysplasia in a patient with Cowden syndrome

K M Cheung  1 , C W Lam  2 , Y K Chan  3 , W K Siu  4 , L Yong  5
Affiliations
Case Reports

Atypical focal cortical dysplasia in a patient with Cowden syndrome

K M Cheung et al. Hong Kong Med J. 2014 Apr.

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.

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