All issues > Volume 46(9); 2003

Case Report

J Korean Pediatr Soc. 2003;46(9):934-938. Published online September 15, 2003.

A Case of Canavan Disease

Young Ho YH Son¹, Tae Gyu TG Hwang¹, Jong Beom JB Sinn¹

¹Department of Pediatrics, Busan Paik Hospital, College of Medicine, Inje University, Busan, Korea

Correspondence Jong Beom JB Sinn ,Email: pedsin@inje.ac.kr

Abstract

Canavan disease, also known as van Bogaert-Bertrand disease, is a rare autosomal recessive disorder characterized by early an onset and a progressive spongyform degeneration of the brain, associated with an edema of the central nerve system, intramyelinic swelling and neurologic symptoms. This disorder is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly and seizures. Canavan disease is caused by the accumulation of N-acetylaspartic acid(NAA) in the brain as the result of a deficiency of aspartoacylase(ASPA) activity. Most children are reported to have the infantile form, becoming symptomatic between three and six month of age, after unremarkable prenatal and perinatal course. We experienced a case of Canavan disease in a six day old female newborn baby, associated with seizure, degeneration of brain white matter and markedly elevated urine N-acetylaspartic acid(NAA) level. So, we report the case with a brief review of the related literature.

Keywords :Canavan disease, N-acetylaspartic acid(NAA)