Atypical focal cortical dysplasia in a patient with 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.
Department of Paediatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
K M
KM
Cheung
Department of Pathology, The University of Hong Kong, Pokfulam, Hong Kong.
C W
CW
Lam
Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong.
Y K
YK
Chan
Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
W K
WK
Siu
Department of Surgery, Caritas Medical Centre, Shamshuipo, Hong Kong.
L
L
Yong
D002648:Child; D004829:Epilepsy, Generalized / Q000209:etiology; D005260:Female; D016368:Frameshift Mutation; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000175:diagnosis* / Q000209:etiology; D058627:Megalencephaly / Q000209:etiology; D051059:PTEN Phosphohydrolase / Q000235:genetics
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human
Epilepsy; Hamartoma; PTEN phosphohydrolase