Canavan Disease - A Rare Case Report

Abstract

Canavan disease is a rare autosomal recessive disorder characterized by progressive leukodystrophy involving white matter of the brain. Disease leads to severe psychomotor retardation, seizures and premature death. More prevalent among Jewish population. Among non-Jewish population incidence is approximately 1:100000. Prognosis is guarded with current management only symptomatic and supportive. There is no effective treatment, however early gene therapy has improved the quality of life of patients. Furthermore, Lithium citrate has also shown certain positive results in experimental models using rats. Even few human studies have also been done, however promising results require larger controlled trials. Keywords: MRI: Magnetic Resonance and Imaging, EEG: Electro Encephalogram, CD: Canavan Disease, ASPA: acetyl aspartate, LUCS: Lower Uterine Cesarean Section, OFC: Occipito Frontal Circumference, NAA: N-acetyl aspartate