Abstract
Megalencephalic leukoencephalopathy is rare disorder seen in India in patient belonging to Agarwal community. Many of the patients may have a mild clinical course with gradual worsening of neurological disability. A case is being reported who was followed for 17 years and paradoxically showed radiological and clinical improvement.
References
Van der Knaap MS, Barth PG, Stroink, Het al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.Ann Neurol 1995; 37: 324–334.
Goutieres F, Boulloche J, Bourgeois Met al. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.J Child Neurol 1996; 11: 439–444.
Mejaski-Bosnjak V, Besenski N, Brockmann Ket al. Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings.Pediatr Neurol 1997; 16 : 347–350.
Besenski N, Bosnjak V, Cop Set al. Neuroimaging and clinically distinctive features in van der Knaap megalencephalic leukoencephalopathy.Int J Neuroradiol 1997; 3: 244–249.
Topcu M, Saatic I, Topcuoglu MAet al. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.Brain Dev 1998; 20: 142–153.
Topcu M, Gartioux C, Ribierre Fet al. Vacuolating leukoencephalopathy with subcortical cysts mapped to chromosome 22qtel.Am J Hum Genet 2000; 66: 733–739.
Leegwater PAJ, Yuan BQ, van der Steen Jet al. Mutations of the MLC1 (KIAAOO27), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.Am J Hum Genet 2001; 68: 831–838.
Singhal BS, Gursahani RD, Udani VPet al. Megalencephalic leukodystrophy in an Asian Indian ethnic group.Pediatr Neurol 1996; 14: 291–296.
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Sethi, P.K., Sethi, N.K. Megalencephalic leukoencephalopathy with subcortical cysts. Indian J Pediatr 71, 473–475 (2004). https://doi.org/10.1007/BF02725646
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DOI: https://doi.org/10.1007/BF02725646