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Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts
Author(s) -
Guzel Aslan,
Tatli Mehmet,
Bilguvar Kaya,
DiLuna Michael L.,
Bakkaloglu Betul,
Ozturk Ali K.,
Bayrakli Fatih,
Gunel Murat
Publication year - 2007
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.31640
Subject(s) - pachygyria , lissencephaly , epilepsy , white matter , medicine , genetic counseling , pathology , pediatrics , psychology , neuroscience , genetics , biology , magnetic resonance imaging , gene , radiology
We report on an apparently new syndrome in a consanguineous family with seven members, three of whom have cerebral anomalies including pachygyria and arachnoid cysts along with mental retardation and seizures. The two patients with seizure disorders also had multiple enlarged perivascular spaces seen in the white matter of the centrum semiovale. Our data provide a contribution to the accumulating knowledge on familial cerebral anomalies including arachnoid cysts and lissencephaly. Given the lack of mutation in known lissencephaly genes such as LIS1 , 14‐3‐3ε , and DCX , this syndrome may constitute a new phenotype with autosomal recessive inheritance. © 2007 Wiley‐Liss, Inc.