Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.
A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.
Saito
Yoshiaki
Y
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan. saitoyo@ncnp.go.jp
Kubota
Masaya
M
Kurosawa
Kenji
K
Ichihashi
Izumi
I
Kaneko
Yuu
Y
Hattori
Ayako
A
Komaki
Hirofumi
H
Nakagawa
Eiji
E
Sugai
Kenji
K
Sasaki
Masayuki
M
D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000503:physiopathology; D002878:Chromosomes, Human, Pair 1; D004569:Electroencephalography; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics* / Q000503:physiopathology*