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Megalencephalic leukoencephalopathy with subcortical cysts

Bhim S Singhal1, J Rafael Gorospe, Sakkubai Naidu

  • 1Department of Neurology, Bombay Hospital Institute of Medical Sciences, Medical Research Center, Mumbai, India. bssingl@vsnl.com

Journal of Child Neurology
|October 24, 2003
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a white matter disorder diagnosed using MRI. Genetic analysis reveals MLC1 gene mutations are the cause, with a founder effect noted in India's Agarwal community.

Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder.
  • Advances in neuroimaging have improved recognition of this condition.
  • Key features include megalencephaly, motor disability, and specific MRI findings.

Purpose of the Study:

  • To describe the clinical and imaging characteristics of MLC.
  • To differentiate MLC from other infantile megalencephalic disorders.
  • To identify the genetic basis and population-specific mutations of MLC.

Main Methods:

  • Clinical assessment of patients with megalencephaly.
  • Magnetic Resonance Imaging (MRI) for white matter evaluation.
  • Genetic analysis to identify mutations in the MLC1 gene.

Main Results:

  • MLC presents with infantile megalencephaly, spasticity, ataxia, seizures, and cognitive decline.
  • MRI reveals extensive bilateral white matter changes and temporal cysts.
  • Mutations in the MLC1 gene cause MLC; a common mutation suggests a founder effect in the Agarwal community in India.

Conclusions:

  • MLC can be distinguished from other infantile megalencephalic conditions based on clinical and MRI data.
  • MLC is an autosomal recessive disorder linked to MLC1 gene mutations.
  • The study highlights a founder effect of a specific MLC1 mutation in the Agarwal population.

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