A Case of Developmental Delay with Canavan's Disease: A case report.

, Shin, Sung Hun; , Oh, Jun Ho; , Park, Noh Hyuck; , Yoo, Hwang Jae; , Kim, Yong Kyun

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2008;32(2):239-243.

Shin, Sung Hun , Oh, Jun Ho , Park, Noh Hyuck , Yoo, Hwang Jae , Kim, Yong Kyun

¹Department of Physical Medicine and Rehabilitation, Kwandong University College of Medicine, Korea. ykkim@kwandong.ac.kr
²Department of Diagnostic Radiology, Kwandong University College of Medicine, Korea.
³Department of Pediatrics, Kwandong University College of Medicine, Korea.

카나반병에 의한 발달지연 1례 -증례 보고-

신성헌, 오준호, 박노혁¹, 유황재², 김용균

관동대학교 의과대학 재활의학교실, ¹영상의학교실, ²소아청소년과학교실

Abstract

Canavan's disease is a hereditary disease that causes development delay by demyelinization of white matter in brain. The cardinal symptoms of Canavan's disease are head-lag, macrocephaly, developmental delay, blindness, epilepsy and hypotonia. Seven-month old baby delivered by Caesarean section at gestational age 40 weeks was complaining of an inability to keep head up. In past history, he was treated for congenital nystagmus. Chromosomal study was normal. Brain MRI showed delay of myelination of 5 months old. During neurodevelopment treatment in our hospital about development delay, macrocephaly was observed with head circumference 46 cm (90∼97 percentile). He couldn't control his head yet. Brain MRI was done when he was 12-month old. There was no myelination in whole brain compared with that of same age group. The peak elevation of N-acetylaspartic acid (NAA) was showed in magnetic resonance spectroscopy (MRS). NAA was detected as high as 29.7 mmol/molCr, we diagnosed him as Canavan's disease. So we reported this case with a brief review of related literatures. (J Korean Acad Rehab Med 2008; 32: 239-243)

Key Words: Canavan's disease, Developmental delay, Macrocephaly