Original Research Article
Year: 2021 | Month: October-December | Volume: 6 | Issue: 4 | Pages: 348-350
DOI: https://doi.org/10.52403/ijshr.20211048
Canavan Disease - A Rare Case Report
Zahoor Hussain Daraz1, Berkheez Shabir2, Rehana Afshan3, Durri Shahwar4
1Senior Resident, Department of Paediatrics, Govt. Medical College, Doda, J&K,
India & Ex-Consultant of Paediatrics in Ministry of Health , Maldives.
2Senior Resident, Department of Obs-Gyne, Govt. Medical College, Doda, J&K,
India & Ex-Consultant of Obs-Gyne in Ministry of Health, Maldives
3Consultant Radiologist, Noora Hospital, HMT, Srinagar, Jammu & Kashmir, India
4Assistant Professor, Department of Physics, Vishwa Bharti Women’s College,
Rainawari, Srinagar, Jammu & Kashmir, India
Corresponding Author: Zahoor Hussain Daraz
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