This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Ben-Zeev, B. Articles by Brand, N. Search for Related Content PubMed PubMed Citation Articles by Ben-Zeev, B. Articles by Brand, N. Social Bookmarking                         What's this?

Vacuolating Megalencephalic Leukoencephalopathy in 12 Israeli Patients

Pediatric Neurology Unit, Pediatric Department, Sheba Medical Center, Ramat-Gan

Varda Gross, MD

Pediatric Neurology Unit Sharey Zedek Medical Center, Jerusalem, Israel

Tamar Kushnir, PhD

Diagnostic Imaging Department Sheba Medical Center, Ramat-Gan

Ruth Shalev, MD

Pediatric Neurology Unit Sharey Zedek Medical Center, Jerusalem, Israel

Chen Hoffman, MD

Diagnostic Imaging Department Sheba Medical Center, Ramat-Gan

Yael Shinar, PhD

Genetics Department Sheba Medical Center, Ramat-Gan

Eilo Pras, MD

Genetics Department Sheba Medical Center, Ramat-Gan

Nathan Brand, MD

Pediatric Neurology Unit, Pediatric Department, Sheba Medical Center, Ramat-Gan

Leukodystrophy with macrocephaly as the main features of infantile neurodegenerative disease are characteristics of Canavan's disease, L-2-hydroxyglutaric aciduria, type I glutaric aciduria, and Alexander's disease. Also occasionally described are occidental congenital muscular dystrophy, G_M2-gangliosidosis, metachromatic leukodystrophy, Krabbe's disease, and mucopolysaccharidosis. Since 1995, over 60 patients with a new syndrome, vacuolating megalencephalic leukoencephalopathy, have been described. The syndrome is characterized by macrocephaly, a slowly progressive clinical course of ataxia, spastic paraparesis, and seizure disorder with relatively spared cognition. Unlike other leukodystrophies with macrocephaly (except Alexander's disease), no metabolic marker has been found. We describe a similar group of 12 patients from two different Jewish ethnic origins in whom consanguinity is prominent. These patients have neuroimaging features and magnetic resonance spectroscopy findings indicating that there is an initial increase in white-matter edema with subsequent cystic formation. Consistent with loss of tissue in these areas, brain metabolites are reduced. The familial incidence in this group of patients is suggestive of autosomal-recessive inheritance. (J Child Neurol 2001;16:93-99).

Journal of Child Neurology, Vol. 16, No. 2, 93-99 (2001)
DOI: 10.1177/088307380101600205


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				L. Vedolin, I.V.D. Schwartz, M. Komlos, A. Schuch, A.C. Puga, L.L.C. Pinto, A.P. Pires, and R. Giugliani Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II AJNR Am. J. Neuroradiol., June 1, 2007; 28(6): 1029 - 1033. [Abstract] [Full Text] [PDF]

				U. Sener, Y. Zorlu, S. Men, U. Bayol, and U. Zanapalioglu Leukoencephalopathy, Cerebral Calcifications, and Cysts AJNR Am. J. Neuroradiol., January 1, 2006; 27(1): 200 - 203. [Abstract] [Full Text] [PDF]

				Y Shinar, B Ben-Zeev, N Brand, H Lahat, V Gross-Zur, D MacGregor, T Bahan, D L Kastner, and E Pras A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts J. Med. Genet., January 1, 2002; 39(1): 54 - 57. [Full Text] [PDF]