ArticleAnnals of Indian Academy of Neurology
Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.Neuroradiology · 2024Article
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.Cell & bioscience · 2024Review
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.Medical sciences (Basel, Switzerland) · 2024Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCanavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series.
methodsThis is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed.
resultsWe had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%,
conclusionUrinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.
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