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Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Yıl 2014, Cilt: 6 , - , 01.06.2014

Öz

Abstract

 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.  

 

 

 

Kaynakça

  • 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
Yıl 2014, Cilt: 6 , - , 01.06.2014

Öz

Kaynakça

  • 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
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Reports
Yazarlar

Shamrendra Narayan

Dipti Agarwal Bu kişi benim

Vandna Verma Bu kişi benim

Nirmal Prajapati Bu kişi benim

Yayımlanma Tarihi 1 Haziran 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 6

Kaynak Göster

APA Narayan, S., Agarwal, D., Verma, V., Prajapati, N. (2014). Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family. Journal of Pediatric Sciences, 6. https://doi.org/10.17334/jps.02063
AMA Narayan S, Agarwal D, Verma V, Prajapati N. Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family. Journal of Pediatric Sciences. Ocak 2014;6. doi:10.17334/jps.02063
Chicago Narayan, Shamrendra, Dipti Agarwal, Vandna Verma, ve Nirmal Prajapati. “Six Cases of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Family”. Journal of Pediatric Sciences 6, Ocak (Ocak 2014). https://doi.org/10.17334/jps.02063.
EndNote Narayan S, Agarwal D, Verma V, Prajapati N (01 Ocak 2014) Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family. Journal of Pediatric Sciences 6
IEEE S. Narayan, D. Agarwal, V. Verma, ve N. Prajapati, “Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family”, Journal of Pediatric Sciences, c. 6, 2014, doi: 10.17334/jps.02063.
ISNAD Narayan, Shamrendra vd. “Six Cases of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Family”. Journal of Pediatric Sciences 6 (Ocak 2014). https://doi.org/10.17334/jps.02063.
JAMA Narayan S, Agarwal D, Verma V, Prajapati N. Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family. Journal of Pediatric Sciences. 2014;6. doi:10.17334/jps.02063.
MLA Narayan, Shamrendra vd. “Six Cases of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Family”. Journal of Pediatric Sciences, c. 6, 2014, doi:10.17334/jps.02063.
Vancouver Narayan S, Agarwal D, Verma V, Prajapati N. Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family. Journal of Pediatric Sciences. 2014;6.