Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.
Am J Med Genet A
; 158A(3): 674-7, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-22315185
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Heterotopia Nodular Periventricular
Limite:
Child, preschool
/
Female
/
Humans
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article