A Case of Angelman Syndrome with Left Hemicortical Atrophy.

Kim,  Hyo Soo; Jin,  Young A; Yoo,  Eun Gyong; Chae,  Kyu Young

Case Report

Journal of the Korean Child Neurology Society 2003;11(2):377-384.
Published online November 30, 2003.

A Case of Angelman Syndrome with Left Hemicortical Atrophy.

Hyo Soo Kim, Young A Jin, Eun Gyong Yoo, Kyu Young Chae

Department Pediatrics, College of Medicine, Pochon CHA University, Sungnam, Korea. barnabas@cha.ac.kr

Abstract

Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.

Key Words: Angelman syndrome, Brain cortical atrophy, EEG