Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family

Shamrendra Narayan [1] , Dipti Agarwal [2] , Vandna Verma [3] , Nirmal Prajapati [4]


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.  

 

 

 

megalencephalic leukoencephalopathy, subcortical cysts
  • 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
Birincil Dil en
Bölüm Case Reports
Yazarlar

Yazar: Shamrendra Narayan

Yazar: Dipti Agarwal

Yazar: Vandna Verma

Yazar: Nirmal Prajapati

Tarihler

Yayımlanma Tarihi : 1 Haziran 2014

Bibtex @ { jps202390, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2014}, volume = {6}, pages = { - }, doi = {10.17334/jps.02063}, title = {Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family}, key = {cite}, author = {Narayan, Shamrendra and Agarwal, Dipti and Verma, Vandna and Prajapati, Nirmal} }
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 (0) , . Retrieved from https://dergipark.org.tr/tr/pub/jps/issue/19090/202390
MLA Narayan, S , Agarwal, D , Verma, V , Prajapati, N . "Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family" . Journal of Pediatric Sciences 6 (2014 ): <https://dergipark.org.tr/tr/pub/jps/issue/19090/202390>
Chicago Narayan, S , Agarwal, D , Verma, V , Prajapati, N . "Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family". Journal of Pediatric Sciences 6 (2014 ):
RIS TY - JOUR T1 - Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family AU - Shamrendra Narayan , Dipti Agarwal , Vandna Verma , Nirmal Prajapati Y1 - 2014 PY - 2014 N1 - DO - T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - EP - VL - 6 IS - 0 SN - -1309-1247 M3 - UR - Y2 - 2021 ER -
EndNote %0 Journal of Pediatric Sciences Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family %A Shamrendra Narayan , Dipti Agarwal , Vandna Verma , Nirmal Prajapati %T Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family %D 2014 %J Journal of Pediatric Sciences %P -1309-1247 %V 6 %N 0 %R %U
ISNAD Narayan, Shamrendra , Agarwal, Dipti , Verma, Vandna , Prajapati, Nirmal . "Six Cases of Megalencephalic Leukoencephalopathy with Subcortical Cysts in a family". Journal of Pediatric Sciences 6 / 0 (Haziran 2014): - .
AMA 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(0): -.
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(0): -.
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, sayı. 0, Haz. 2014, doi:10.17334/jps.02063