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Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?
Author(s) -
Kato Mitsuhiro,
Takizawa Noboru,
Yamada Sirou,
Ito Aiko,
Honma Tomomi,
Hashimoto Motoya,
Saito Emi,
Ohta Tomoko,
Chikaoka Hideo,
Hayasaka Kiyoshi
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199910)46:4<660::aid-ana17>3.0.co;2-q
Subject(s) - pachygyria , polymicrogyria , cerebellar hypoplasia (non human) , lissencephaly , hypotonia , hypoplasia , cerebellum , medicine , magnetic resonance imaging , cerebral cortex , pathology , anatomy , neuroscience , biology , pediatrics , radiology , genetics , gene
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.