Format

Send to

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

Atypical focal cortical dysplasia in a patient with Cowden syndrome.

Author information

1
Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
2
Department of Pathology, The University of Hong Kong, Pokfulam, Hong Kong.
3
Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
4
Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
5
Department of Surgery, Caritas Medical Centre, Shamshuipo, Hong Kong.

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

PMID:
24714173
DOI:
10.12809/hkmj133863
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Hong Kong Academy of Medicine Press
Loading ...
Support Center