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.
Torniero
Claudia
C
Child Neuropsychiatry Unit, University of Verona, Policlinico G.B. Rossi, Piazzale L.A. Scuro 10, Verona, Italy. c.torniero@libero.it
Zuffardi
Orsetta
O
Darra
Francesca
F
Dalla Bernardina
Bernardo
B
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