This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on Web of Science (2)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Epilepsy  • Neurogenetics  • Pediatrics  • Congenital Malformations  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

Eliane Kobayashi, MD; Daniela Facchin, MD; Carlos E. Steiner, MD, MSc; Andrea A. A. Leone, MSc; Nilma L. V. Campos, PhD; Fernando Cendes, MD, PhD; Iscia Lopes-Cendes, MD, PhD

Arch Neurol. 2002;59:1476-1479.

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.

Design, Setting, and Patients  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.

From the Departamento de Neurologia (Drs Kobayashi and Cendes and Ms Leone) and Departamento de Genética Médica (Drs Facchin, Steiner, Campos, and Lopes-Cendes), Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, Brazil.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?