Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is caused by failure to initiate migration during embryogenesis. We report on a 32-month-old Japanese girl with a unique subtype of PH, namely ribbon-like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed West syndrome phenotype. Brain magnetic resonance imaging revealed a unique undulating form of PH, categorized as ribbon-like PH, and other brain malformations including simplified gyri and dysgenesis of the corpus callosum. There was no evidence of prenatal TORCH infection or associated syndrome. Array-based comparative genomic hybridization revealed no chromosomal rearrangements. Genetic analyses of the FLNA, DCX, ARX, LIS1, and TUBA1A genes showed no mutations. Although little is known about ribbon-like PH, the clinical manifestations in our patient clearly differed from those in other reported patients.
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Rie
R
Tsuburaya
Mitsugu
M
Uematsu
Atsuo
A
Kikuchi
Naomi
N
Hino-Fukuyo
Shinji
S
Kunishima
Mitsuhiro
M
Kato
Kazuhiro
K
Haginoya
Shigeru
S
Tsuchiya
D002386:Cataract / Q000150:complications / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007564:Japan; D009154:Mutation; D054091:Periventricular Nodular Heterotopia / Q000150:complications* / Q000235:genetics; D060888:Real-Time Polymerase Chain Reaction