Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder

Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder

Dysmyelination is a genetic disorder still in the process of being classified, with varying patterns seen on magnetic resonance imaging (MRI). Van der Knaap disease is one of the rare dysmyelinating conditions recognized as a separate entity as late as 1995. The various genetic mutations responsible...

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Veröffentlicht in:Journal of pediatric neurosciences 2013-01, Vol.8 (1), p.77-80
Hauptverfasser: Bajaj, Sunil, Misra, Ritu, Gupta, Rohini, Chandra, Ranjan, Malik, Amita
Format: Artikel
Sprache:eng
Schlagworte:
Brain
Children & youth
Cysts
Letters to the Editor
Neurological disorders
Neurons
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Zusammenfassung:Dysmyelination is a genetic disorder still in the process of being classified, with varying patterns seen on magnetic resonance imaging (MRI). Van der Knaap disease is one of the rare dysmyelinating conditions recognized as a separate entity as late as 1995. The various genetic mutations responsible for phenotypic expression of this condition are coming to the fore. This has prognostic implications, which are important to appreciate.
ISSN:1817-1745
1998-3948
DOI:10.4103/1817-1745.111438