A Case of Angelman Syndrome.

Park,  Joong Chae; Kim,  Heung Dong; Lee,  Sook Hwan

Case Report

Journal of the Korean Child Neurology Society 1998;6(2):359-364.
Published online May 30, 1998.

A Case of Angelman Syndrome.

Joong Chae Park, Heung Dong Kim, Sook Hwan Lee

¹Department of Pediatrics, Inje University College of Medicine, Sang-gye Paik Hospital, Seoul, Korea.
²Human Genetics Lab. of Infertility Medical Center of CHA General Hospital, Department of OB/GYN, Pochon CHA University College of Medicine, Seoul, Korea.

Abstract

Angelman syndrome is a rare genetic disorder characterized by developmental delay, speech impairment, ataxic gait, paroxysmal laughter, and seizures. The diagnosis is suspected in infants who have the characteristic clinical features and electroencephalographic (EEG) abnormalities, and is confirmed by the genetic identification of a maternally derived 15q11-13 deletion. We report a case of genetically confirmed Angelman syndrome who had the characteristic clinical and EEG features.

Key Words: Angelman syndrome, EEG, Chromosome 15