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Unusual ribbon‐like periventricular heterotopia with congenital cataracts in a Japanese girl
Author(s) -
Tsuburaya Rie,
Uematsu Mitsugu,
Kikuchi Atsuo,
HinoFukuyo Naomi,
Kunishima Shinji,
Kato Mitsuhiro,
Haginoya Kazuhiro,
Tsuchiya Shigeru
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34258
Subject(s) - dysgenesis , schizencephaly , corpus callosum , epilepsy , hydrocephalus , medicine , ventriculomegaly , pathology , pediatrics , anatomy , genetics , biology , surgery , pregnancy , fetus , psychiatry
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.