Megalencephalic leukoencephalopathy with subcortical cysts

Bhim S. Singhal, J. Rafael Gorospe, Sakkubai Naidu

Research output: Contribution to journalArticle

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts is one of the newly described white-matter disorders for which recognition has been brought about by advances in imaging technology. The essential diagnostic features include megalencephaly noted in infancy, motor disability in the form of spasticity, ataxia, occasional seizures, mild cognitive decline, and slow progression. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter changes with cysts in the temporal regions. Based on the clinical and MRI features, megalencephalic leukoencephalopathy with subcortical cysts can be distinguished from other conditions (ie, Alexander's disease, Canavan's disease, glutaricaciduria type I) that present in infancy with megalencephaly. Megalencephalic leukoencephalopathy with subcortical cysts is an autosomal recessive disorder, and mutations in the MLC1 gene have now been shown to cause this condition. Several genotypic and phenotypic variations have been described. In India, megalencephalic leukoencephalopathy with subcortical cysts occurs predominantly in the Agarwal community. A common mutation in the MLC1 gene has been seen in 31 Agarwal patients, which suggests a founder effect.

Original languageEnglish (US)
Pages (from-to)646-652
Number of pages7
JournalJournal of Child Neurology
Volume18
Issue number9
StatePublished - Sep 1 2003

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Megalencephaly
Alexander Disease
Canavan Disease
Magnetic Resonance Imaging
Founder Effect
Mutation
Temporal Lobe
Ataxia
Genes
Cysts
India
Seizures
Technology
Megalencephalic leukoencephalopathy with subcortical cysts
White Matter
Cognitive Dysfunction

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Megalencephalic leukoencephalopathy with subcortical cysts. / Singhal, Bhim S.; Gorospe, J. Rafael; Naidu, Sakkubai.

In: Journal of Child Neurology, Vol. 18, No. 9, 01.09.2003, p. 646-652.

Research output: Contribution to journalArticle

Singhal, BS, Gorospe, JR & Naidu, S 2003, 'Megalencephalic leukoencephalopathy with subcortical cysts', Journal of Child Neurology, vol. 18, no. 9, pp. 646-652.
Singhal, Bhim S. ; Gorospe, J. Rafael ; Naidu, Sakkubai. / Megalencephalic leukoencephalopathy with subcortical cysts. In: Journal of Child Neurology. 2003 ; Vol. 18, No. 9. pp. 646-652.
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