Megalencephalic Leukodystrophy with Subcortical Cysts: A Case Report

Authors

  • Chewarat Wirojtananugoon Department of Radiology. Indiana University School of Medicine, Indianapolis. Indiana. USA
  • Annette Douglas-Akinwande Department of Radiology. Indiana University School of Medicine, Indianapolis. Indiana. USA
  • Bhuwan Garg Department of Neurology. Indiana University School of Medicine. Indianapolis, Indiana. USA

Abstract

Megalencephalic leukodystrophy is a rare neurodegenerative disorder which is characterized by macrocephaly in early infancy, slowly progressive neurologic deterioration and epilepsy. It was first described by Van der knaap in 1995. We present evolution of the imaging findings from 11 months to 10 years of ag

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

References

Van der Knaap MS. Barth PG. Stroink H. van Nieuwenhuizen O, Arts WFM. Hoogenraad F. Valk J. Leukoencephalopathy with swelling and discrepantly mild clinical course in eight children. Ann Neuro! 1995:37 324-34

Goutiers F. Boulloche J. Bourgeois M. Aicardi J Leukoencephalopathy. megalencephaly, and mild clinical course. A recent individualized familial leukodystrophy. Report on five new cases. J Child Neurol 1996:11:439 444

Singhal BS. Gursahani RD, Udani VP. Biniwale AA. Megalencephalic leukodystrophy in an Asian ethnic group. Pediatr Neurol 1996:14:291-6

Van der Knaap MS. Barth PG. Vrensen GFJM. Valk J Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course Acta Neuropathol 1996:92:206-12

Mejaski-Bosnjak V. Besenski N. Brockmann K, Pouwels PJ. Frahm J. Hanefeld FA. Cystic leukoencephalopathy in a megalencephalic child: Clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings. Pediatr Neurol 1997:16:347-50.

Topcu M. Saatci K, Topcuoglu MA. Kose G. Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 1998: 20:142- 53.

Topcu M. Gartioux C. Ribierre F. et al. Vacuoliting megalencephalic leukoencephalopathy with subcortical systs. mapped to chromosome 22qtel. Am J Hum Genet 2000: 66:733-9

Leegwater PA. Yuan BQ. van der Steen J. et al. Mutations of MLC1 (KIAA0027). encoding a putative membrane protein. cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001:68:831-8.

Leegwater PA. Boor PK. Yuan BQ, et al. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2002:110:279-83.

Ben-Zeev B. Levy-Nissenbaum E, Lahat H. Anikster Y, et al. Megalencephalic leukoencephalopathy with subcortical cysts: a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. Hum Genet 2002:111:214-8.

Gorospe JR. Singhal BS. Kainu T. et al. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004: 62:878-82

Downloads

Published

2023-04-28

How to Cite

1.
Wirojtananugoon C, Douglas-Akinwande A, Garg B. Megalencephalic Leukodystrophy with Subcortical Cysts: A Case Report. ASEAN J Radiol [Internet]. 2023 Apr. 28 [cited 2024 Nov. 22];16(3):222-9. Available from: https://asean-journal-radiology.org/index.php/ajr/article/view/861

Issue

Vol. 16 No. 3 (2010): September-December

Section

Case Report

License

Copyright (c) 2023 The ASEAN Journal of Radiology

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Disclosure Forms and Copyright Agreements
All authors listed on the manuscript must complete both the electronic copyright agreement. (in the case of acceptance)

Most read articles by the same author(s)