Atypical focal cortical dysplasia in a patient with Cowden syndrome

被引：0
|
作者：
Cheung, K. M. [1 ]
Lam, C. W. [4 ]
Chan, Y. K. [2 ]
Siu, W. K. [5 ]
Yong, L. [3 ]
机构：
[1] Caritas Med Ctr, Dept Paediat, Shamshuipo, Peoples R China
[2] Caritas Med Ctr, Dept Med & Geriatr, Shamshuipo, Peoples R China
[3] Caritas Med Ctr, Dept Surg, Shamshuipo, Peoples R China
[4] Univ Hong Kong, Dept Pathol, Pokfulam, Peoples R China
[5] Princess Margaret Hosp, Dept Pathol, Chem Pathol Lab, Kowloon W Cluster Lab Genet Serv, Laichikok, Peoples R China
来源：
HONG KONG MEDICAL JOURNAL | 2014年 / 20卷 / 02期
关键词：
PTEN MUTATIONS; CANCER-RISKS; POLYPOSIS; MANIFESTATIONS; DISEASE;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：165 / 167
页数：3
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