A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review

A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cas...

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Published in:Curēus (Palo Alto, CA) CA), 2023-03, Vol.15 (3), p.e36471
Main Authors: Singh, Sonali, Mishra, Anshika, Murthy, Chinmayee, Inban, Pugazhendi, Abdefatah Ali, Munira, Yadav, Anupam S, Intsiful, Tarsha A, O Omar, Zainab T, Lakhra, Sakshi, Khan, Dr Aadil
Format: Article
Language:English
Subjects:
Age
Atrophy
Case reports
Disease
Intensive care
Internal Medicine
Magnetic resonance imaging
Mass spectrometry
Medical research
Medicine
Metabolism
Neurology
Pediatrics
RNA polymerase
Scientific imaging
Spasticity
Teenagers
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container_title Curēus (Palo Alto, CA)
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creator Singh, Sonali
Mishra, Anshika
Murthy, Chinmayee
Inban, Pugazhendi
Abdefatah Ali, Munira
Yadav, Anupam S
Intsiful, Tarsha A
O Omar, Zainab T
Lakhra, Sakshi
Khan, Dr Aadil
description A subset of hereditary white matter disorders called hypomyelinating leukodystrophies (HLD) is characterized primarily by the absence of myelin deposition. Although the clinical presentation can be mild and the development of symptoms can occur in adolescence or adulthood, the majority of severe cases present during infancy and early childhood with significant neurological impairments. The clinical features vary from muscle stiffness to seizures and developmental delay. The detailed myelination process can be seen with magnetic resonance imaging (MRI), and many patients are diagnosed using MRI pattern recognition and next-generation sequencing (NGS) in most cases. Here, we report a case of an infant suffering from the hypomyelinating leukodystrophy-13 (HLD-13) variant, whose next-generation sequencing revealed a pathogenic homozygous variant.
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subjects Age
Atrophy
Case reports
Disease
Intensive care
Internal Medicine
Magnetic resonance imaging
Mass spectrometry
Medical research
Medicine
Metabolism
Neurology
Pediatrics
RNA polymerase
Scientific imaging
Spasticity
Teenagers
title A Rare Case of Hypomyelinating Leukodystrophy and Its Management: A Case Report and Literature Review
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