J Korean Pediatr Soc.  2003 Sep;46(9):934-938.

A Case of Canavan Disease

• Son YH
• Hwang TG
• Sinn JB

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.

Keyword

Canavan disease; N-acetylaspartic acid(NAA)

MeSH Terms

Brain
Canavan Disease*
Child
Edema
Ethnic Groups
Female
Head
Humans
Infant, Newborn
Intellectual Disability
Macrocephaly
Neurologic Manifestations
Seizures