| Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl. | |
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MedLine Citation:
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PMID: 22315185 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Rie Tsuburaya; Mitsugu Uematsu; Atsuo Kikuchi; Naomi Hino-Fukuyo; Shinji Kunishima; Mitsuhiro Kato; Kazuhiro Haginoya; Shigeru Tsuchiya |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-2-7 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-2-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Wiley Periodicals, Inc. |
Affiliation:
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Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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