ORIGINAL ARTICLE
Year : 2016 | Volume
: 19 | Issue : 3 | Page : 332--338
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
Sheffali Gulati1, Puneet Jain1, Biswaroop Chakrabarty1, Atin Kumar2, Neerja Gupta1, Madhulika Kabra1
1 Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
2 Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India
Correspondence Address:
Sheffali Gulati
Department of Pediatrics, Division of Child Neurology, All India Institute of Medical Sciences, New Delhi - 110 029
India
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.
How to cite this article:
Gulati S, Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M. The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India.Ann Indian Acad Neurol 2016;19:332-338
|
How to cite this URL:
Gulati S, Jain P, Chakrabarty B, Kumar A, Gupta N, Kabra M. The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India. Ann Indian Acad Neurol [serial online] 2016 [cited 2021 Mar 2 ];19:332-338
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=332;epage=338;aulast=Gulati;type=0 |
|
|
|
