title: Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?
abstract: We report the unusual occurrence of progressive megalencephaly and dilated periventricular cystic Virchow-Robin spaces on magnetic resonance imaging in two siblings of a Turkish family. Both affected children in addition presented with psychomotor retardation. Since the index patients were of different gender and their parents were consanguineous, this constellation of findings is suggestive of an autosomal recessive trait.
authors.affiliation: Department of Pediatrics, University of Schleswig-Holstein, Lübeck Medical School, Ratzeburger Allee 160, D-23538 Lübeck Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 Clinical Genetics Unit at Altona Children´s Hospital, Bleickenallee 38, 22763 Hamburg, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Härtel
authors.forename: Sandra
authors.initials: S
authors.lastname: Bachmann
authors.forename: Carsten
authors.initials: C
authors.lastname: Bönnemann
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Jürgen
authors.initials: J
authors.lastname: Sperner
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D035781:Siblings