Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome?

Published on Oct 1, 1999in Annals of Neurology
10.42
· DOI :10.1002/1531-8249(199910)46:4<660::aid-ana17>3.0.co;2-q
Mitsuhiro Kato49
Estimated H-index: 49
(YU : Yamagata University),
Noboru Takizawa1
Estimated H-index: 1
(Department of Pediatrics, National Sanatorium Ishikawa Hospital)
+ 7 AuthorsKiyoshi Hayasaka33
Estimated H-index: 33
(YU : Yamagata University)
Source
Abstract
We report on 2 families with diffuse pachygyria and cerebellar hypoplasia, who presented hypotonia, ataxia, seizures, and developmental delay since infancy. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed decreased gyral formation in the cerebral cortex and marked hypoplasia in the cerebellum. Cerebellar hypoplasia is often associated with type 2 lissencephaly; however, our cases showed no polymicrogyria, and their clinical findings were quite mild compared with those of microlissencephaly. Their characteristic phenotype suggested a new genetic syndrome, which was possibly inherited as an autosomal recessive trait.
References10
Cited By16
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