Epilepsy in trisomy 7 mosaicism: A case report and literature review
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. © 2011 - IOS Press and the authors. All rights reserved.
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- Neurology & Neurosurgery
- 11 Medical and Health Sciences
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Published In
DOI
EISSN
ISSN
Publication Date
Volume
Issue
Start / End Page
Related Subject Headings
- Neurology & Neurosurgery
- 11 Medical and Health Sciences