Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
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.
Child Neuropsychiatry Unit, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, Verona, Italy. c.torniero@libero.it
Claudia
C
Torniero
Orsetta
O
Zuffardi
Francesca
F
Darra
Bernardo
B
Dalla Bernardina
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D002540:Cerebral Cortex / Q000503:physiopathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003624:Darkness / Q000009:adverse effects*; D004569:Electroencephalography / Q000706:statistics & numerical data*; D004831:Epilepsies, Myoclonic / Q000453:epidemiology / Q000235:genetics*; D017034:Epilepsy, Frontal Lobe / Q000235:genetics / Q000503:physiopathology; D020195:Epilepsy, Reflex / Q000453:epidemiology / Q000235:genetics*; D005143:Eyelids / Q000502:physiology; D005403:Fixation, Ocular / Q000502:physiology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology