Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Shamrendra Narayan, Dipti Agarwal, Vandna Verma, Nirmal C Prajapati
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 We present a case series of 6 children of Megalencephalic leukoencephalopathy with subcortical cysts. It is a very rare leukodystrophy that is characterized by macrocephaly , a slowly progressive clinical course and fatal outcome. Clinical presentation and MRI scans are the mainstay of diagnosis. 6 of 7 children from the same parents were affected suggesting variation from autosomal recessive pattern.  





megalencephalic leukoencephalopathy, subcortical cysts

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Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts. J Child Neurol 2003; 18: 646-6

Van der Knaap MS, Valk J, Barth PG. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology 1995; 37: 679-686.

Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Megalencephalic leukoencephalopathy in India (abstract). In: Proceedings of the 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan, 1991, Van der Knaap MS, Barth PG, Stroink H, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 1995; 37: 324-334.

Topçu M, Saatçi I, Topçuoğlu MA, et al. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998; 20: 142-153.

Brockman K, Finsterbusch J, Terwey B, et al. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003; 45: 137-142.

Yalcinkaya C, Yuksel A, Comu S, Kilic G, Cokar O, Dervent A. Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts. Seizure 2003; 12:388-396. Shukla P, Gupta N, Ghosh M, Vasisht S, Gulati S, Balakrishnan P, Sharma R, Gupta AK, Kamate M, Kalra V, Kabra M. Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy . Pediatr Neurol 2011; 44:450-458.

Topcu M, Gartioux C, Ribierre F, Yalcinkaya C, Tokus E, Oztekin N, Beckmann JS, Ozgue M, Seboun E. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet. 2000; 66: 733-739.

Patrono C, Di Giacinto G, Eymard-Pierre E, et al. Genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts. Neurology 2003; 61: 5345