Cohen syndrome with insulin resistance and seizure

Atabek M., Keskin M., Kurtoglu S., Kumandaş S.

PEDIATRIC NEUROLOGY, vol.30, no.1, pp.61-63, 2004 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 1
  • Publication Date: 2004
  • Doi Number: 10.1016/s0887-8994(03)00309-6
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.61-63
  • Erciyes University Affiliated: Yes


Cohen syndrome is a rare, genetic, connective-tissue disorder with the genetic abnormality linked to chromosome 8q22. The diagnosis of Cohen syndrome is based on the recognition of certain clinical findings, which include mental retardation, typical morphologic stigmata (e.g., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands and feet), and characteristic ophthalmologic abnormalities. We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia. (C) 2004 by Elsevier Inc. All rights reserved.