Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl

作者：Tsuburaya Rie; Uematsu Mitsugu^*; Kikuchi Atsuo; Hino Fukuyo Naomi; Kunishima Shinji; Kato Mitsuhiro; Haginoya Kazuhiro; Tsuchiya Shigeru

来源：American Journal of Medical Genetics, Part A, 2012, 158A(3): 674-677.

DOI：10.1002/ajmg.a.34258

• ribbon-like periventricular heterotopia
• migration disorders
• congenital cataract
• West syndrome

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. 2012 Wiley Periodicals, Inc.

• 出版日期2012-3