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- Title
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India.
- Authors
Gulati, Sheffali; Jain, Puneet; Chakrabarty, Biswaroop; Kumar, Atin; Gupta, Neerja; Kabra, Madhulika
- Abstract
Objective: The 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 Methods: The 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. Results: The 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. Conclusions: Leukodystrophies 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.
- Subjects
INDIA; ACADEMIC medical centers; GENETIC counseling; RETROSPECTIVE studies; HEREDITARY central nervous system demyelinating diseases
- Publication
Annals of Indian Academy of Neurology, 2016, Vol 19, Issue 3, p332
- ISSN
0972-2327
- Publication type
Article
- DOI
10.4103/0972-2327.179975