title: Mesial temporal lobe abnormalities in a family with 15q26qter trisomy.
abstract: BACKGROUND
  The association of chromosomal imbalances and neurologic abnormalities is well known.
  
  
  OBJECTIVE
  To describe a family with 2 brothers presenting with 15q trisomy due to a maternal equilibrated translocation involving chromosomes 12 and 15.
  
  
  METHODS
  Among patients with epilepsy followed up in our hospital, we identified 2 brothers with epilepsy and mental retardation who presented dysmorphic features. Detailed clinical, electroencephalographic, and magnetic resonance imaging investigation was performed. In addition, we collected blood samples for karyotyping.
  
  
  RESULTS
  Clinical findings included minor dysmorphic features, mental retardation, abnormal behavior, and secondary generalized epilepsy. Electroencephalography showed left temporal slow waves in the older brother and background abnormality associated with generalized and multifocal epileptiform discharges in the other. Their magnetic resonance images showed mesial temporal lobe malformation, including the hippocampus and parahippocampal and fusiform gyri, with abnormal shape and axis.
  
  
  CONCLUSIONS
  To our knowledge, this is the first report of mesial temporal lobe malformation associated with chromosomal abnormalities. Our finding may contribute to the understanding of the genetic mechanisms involved in central nervous system malformations, especially in the mesial temporal lobe structures.
authors.affiliation: Departamento de Neurologia, Faculdade de Ciências Médicas-UNICAMP, Caixa Postal 6111, Cidade Universitária Zeferino Vaz, Campinas SP, Brazil, CEP 13083-970.
authors.forename: Eliane
authors.initials: E
authors.lastname: Kobayashi
authors.forename: Daniela
authors.initials: D
authors.lastname: Facchin
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Steiner
authors.forename: Andrea A A
authors.initials: AA
authors.lastname: Leone
authors.forename: Nilma L V
authors.initials: NL
authors.lastname: Campos
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000150:complications / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D010375:Pedigree; D013702:Temporal Lobe / Q000473:pathology*; D014314:Trisomy / Q000235:genetics / Q000473:pathology*