A Case of Developmental Delay with Canavan's Disease: A case report.
- Author:
Sung Hun SHIN
1
;
Jun Ho OH
;
Noh Hyuck PARK
;
Hwang Jae YOO
;
Yong Kyun KIM
Author Information
1. Department of Physical Medicine and Rehabilitation, Kwandong University College of Medicine, Korea. ykkim@kwandong.ac.kr
- Publication Type:Case Report
- Keywords:
Canavan's disease;
Developmental delay;
Macrocephaly
- MeSH:
Aspartic Acid;
Blindness;
Brain;
Cesarean Section;
Epilepsy;
Female;
Genetic Diseases, Inborn;
Gestational Age;
Head;
Humans;
Macrocephaly;
Magnetic Resonance Spectroscopy;
Muscle Hypotonia;
Myelin Sheath;
Nystagmus, Congenital;
Pregnancy
- From:Journal of the Korean Academy of Rehabilitation Medicine
2008;32(2):239-243
- CountryRepublic of Korea
- Language:Korean
-
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.
