Neurophysiological findings in a newborn with chromosome 10 trisomy

BMJ Case Rep. 2014 May 5:2014:bcr2013010222. doi: 10.1136/bcr-2013-010222.

Abstract

The trisomy of the short arm of chromosome 10 is a rare condition. The phenotypic expression of this genetic aberration is characterised by growth and mental retardation with several neurological signs. We report the neurophysiological findings in a newborn affected by 10p chromosome trisomy who developed seizures. Serial EEGs showed a progressive reduction in burst-suppression activity and a slow rhythmic basal activity. At 1 year of age the recording showed for the first time spikes of high amplitude (up to 800 μV) in bilateral frontal regions. These findings could be related to an asymmetrical cerebral maturation in the context of perinatal sufferance and brain malformation due to the genetic aberration.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Brain / physiopathology*
  • Chromosomes, Human, Pair 10 / genetics
  • Craniofacial Abnormalities / genetics*
  • Electroencephalography
  • Humans
  • Infant, Newborn
  • Male
  • Translocation, Genetic
  • Trisomy / genetics
  • Trisomy / physiopathology*

Supplementary concepts

  • Chromosome 10, trisomy 10p