How to Cite this Article: Tsuburaya R, Uematsu M, Kikuchi A, Hino-Fukuyo N, Kunishima S, Kato M, Haginoya K, Tsuchiya S. 2012. Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. Am J Med Genet Part A 158A:674–677.
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Clinical Report
Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl†
Article first published online: 7 FEB 2012
DOI: 10.1002/ajmg.a.34258
Copyright © 2012 Wiley Periodicals, Inc.
Additional Information
How to Cite
Tsuburaya, R., Uematsu, M., Kikuchi, A., Hino-Fukuyo, N., Kunishima, S., Kato, M., Haginoya, K. and Tsuchiya, S. (2012), Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. Am. J. Med. Genet., 158A: 674–677. doi: 10.1002/ajmg.a.34258
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Publication History
- Issue published online: 16 FEB 2012
- Article first published online: 7 FEB 2012
- Manuscript Accepted: 27 JUN 2011
- Manuscript Received: 3 NOV 2010
- Abstract
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- References
- Cited By
Keywords:
- ribbon-like periventricular heterotopia;
- migration disorders;
- congenital cataract;
- West syndrome
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. © 2012 Wiley Periodicals, Inc.