Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts
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Synonyms	Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
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Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

Genetics

It is associated with MLC1.<ref name="pmid16652334">,

 Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1, 
 Hum. Mutat., 
 
 Vol. 27(Issue: 6),
 pp. 505–12,
 DOI: 10.1002/humu.20332,
 PMID: 16652334,</ref><ref>

Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference(link). '.

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History

A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991.<ref>,

 Megalencephalic leukodystrophy in an Asian Indian ethnic group, 
 Pediatric Neurology, 
 
 Vol. 14(Issue: 4),
 pp. 291–6,
 DOI: 10.1016/0887-8994(96)00048-3,
 PMID: 8805171,</ref><ref>, 
 Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases, 
 Journal of Pediatric Neurosciences, 
 
 Vol. 6(Issue: 1),
 pp. 74–7,
 DOI: 10.4103/1817-1745.84416,
 PMID: 21977097,
 PMC: 3173924,</ref><ref> Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Tokyo, Japan: In Proceedings of the 8th Asian and Oceanian Congress of Neurology; 1991. Megalencephalic leukodystrophy in India; p. 72.</ref> However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.<ref>, 
 Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter, 
 Journal of Child Neurology, 
 
 Vol. 14(Issue: 11),
 pp. 728–731,
 DOI: 10.1177/088307389901401108,
 PMID: 10593550,</ref><ref>, 
 Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children, 
 Annals of Neurology, 
 
 Vol. 37(Issue: 3),
 pp. 324–34,
 DOI: 10.1002/ana.410370308,
 PMID: 7695231,</ref><ref>, 
 Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis, 
 The Lancet Neurology, 
 
 Vol. 11(Issue: 11),
 pp. 973–985,
 DOI: 10.1016/S1474-4422(12)70192-8,
 PMID: 23079554,</ref>

External links

• GeneReview/NIH/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts

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