ArticleAnnals of Indian Academy of Neurology
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North 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 9 papers.
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic Etiology in Children with Progressive Neuroregression.Indian journal of pediatrics · 2026Observational
- Pelizaeus-Merzbacher disease in children: A case report.Radiology case reports · 2026Article
- Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.Neurology. Genetics · 2024Article
- A Rare Case of Vanishing White Matter Disease.Cureus · 2024Article
- Pearls & Oy-sters:Neurology · 2024Article
- Early recognition of patients with leukodystrophies.Current problems in pediatric and adolescent health care · 2022Review
- Article
- Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.Journal of pediatric genetics · 2021Article
- Epidemiological Profile of Acute Viral Encephalitis.Indian journal of pediatrics · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India. MATERIALS AND
methodsThe case records of 80 confirmed cases of leukodystrophy were reviewed and the cases have been described in terms of their clinical presentation and neuroimaging findings.
resultsThe cases have been grouped into five categories: Hypomyelinating, demyelinating, disorders with vacuolization, cystic, and miscellaneous. The commonest leukodystrophies are megalencephalic leukoencephalopathy with subcortical cysts (MLC), Pelizaeus-Merzbacher disease (PMD), and metachromatic leukodystrophy (MLD). A notable proportion of hypomyelinating disorders were uncharacterized.
conclusionsLeukodystrophies at this point of time have no definite cure. They have a progressively downhill clinical course. Early diagnosis is imperative for appropriate genetic counseling. A simplified approach to diagnose common leukodystrophies has also been provided. It is important to develop a registry, which can provide valuable epidemiological data to prioritize research in this field, which has many unanswered questions.
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Registered trials
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