A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome.

No,  Sol Ji; Kim,  Dong Ouk; Lee,  Sang Min; Lee,  Jin Sook

Case Report

Journal of the Korean Child Neurology Society 2012;20(1):23-27.
Published online March 30, 2012.

A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome.

Sol Ji No, Dong Ouk Kim, Sang Min Lee, Jin Sook Lee

Department of Pediatrics, Kawndong University College of Medicine, Gyeonggi-do, Korea. mickeyjin@naver.com

Abstract

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.

Key Words: Cri du Chat syndrome, Developmental delay