Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13

Epilepsia. 2007 Nov;48(11):2177-80. doi: 10.1111/j.1528-1167.2007.01220.x. Epub 2007 Jul 28.

Abstract

We describe a male carrier of trisomy 13 with scotosensitive and photosensitive myoclonic seizures appearing at the age of 8 months and persisting until death at 20 months. The seizures consisted of massive myoclonic jerks induced both by switching the room light suddenly on or off or by IPS with a frequency of 1 s. Spontaneous seizures were absent. The child also presented from the same age with breath-holding spells. This is interesting because it represents a rare example of the co-occurrence of scotosensitive and photosensitive seizures. Furthermore, a possible association to locus on 13q31.3 has been reported for photosensitivity, while for scotosensitivity there is no previous genetic information.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics
  • Cerebral Cortex / physiopathology
  • Chromosomes, Human, Pair 13 / genetics*
  • Darkness / adverse effects*
  • Electroencephalography / statistics & numerical data*
  • Epilepsies, Myoclonic / epidemiology
  • Epilepsies, Myoclonic / genetics*
  • Epilepsy, Frontal Lobe / genetics
  • Epilepsy, Frontal Lobe / physiopathology
  • Epilepsy, Reflex / epidemiology
  • Epilepsy, Reflex / genetics*
  • Eyelids / physiology
  • Fixation, Ocular / physiology
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Trisomy / genetics*
  • Trisomy / physiopathology