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Journal of Pediatric Neurology 2011; 09(01): 063-068
DOI: 10.3233/JPN-2010-0442
Georg Thieme Verlag KG Stuttgart – New York

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

Aravindhan Veerapandiyan
a   Department of Pediatrics, Division of Neurology, Duke University Medical Center, Durham, NC, USA
,
William B. Gallentine
a   Department of Pediatrics, Division of Neurology, Duke University Medical Center, Durham, NC, USA
,
Kelly Schoch
b   Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA
,
Vandana Shashi
b   Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA
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14. September 2009

02. Dezember 2009

Publikationsdatum:
30. Juli 2015 (online)

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Abstract

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.

Keywords

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