Epilepsy in trisomy 7 mosaicism: A case report and literature review

被引：0

作者：

Veerapandiyan, Aravindhan ^{[1
]}

Gallentine, William B. ^{[1
]}

Schoch, Kelly ^{[2
]}

Shashi, Vandana ^{[2
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Div Neurol, Durham, NC 27708 USA

[2] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Box 103857,GSRB1, Durham, NC 27708 USA

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2011年 / 9卷 / 01期

关键词：

Trisomy; 7; chromosomal mosaicism; seizures; epilepsy; hypomelanosis of Ito;

D O I：

10.3233/JPN-2010-0442

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Epilepsy is found to be frequently associated with many chromosomal disorders. We describe a 5-year-old boy with recurrent absence seizures, developmental delay, hypomelanosis of Ito, facial asymmetry and mild dysmorphic features that has tissue specific trisomy 7 mosaicism. We compare our patient with the long term surviving patients of mosaic trisomy 7 reported to date in the literature to highlight that epilepsy is a common feature in this chromosomal condition. The wide phenotypic variability of mosaic trisomy 7 is described. We conclude that a combination of epilepsy and hypomelanosis of Ito in a patient should prompt a clinician to think of chromosomal mosaicism, such as mosaic trisomy 7.

引用

页码：63 / 68

页数：6

共 26 条

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