Related Experiment Video

Updated: May 28, 2026

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe
06:04

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe

Published on: August 16, 2024

Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases

Amit Batla1, Sanjay Pandey, Ravi Nehru

  • 1Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

Journal of Pediatric Neurosciences
|October 7, 2011
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder. This study highlights its key MRI findings and presents cases with unexpected seizure prevalence and neuropsychiatric symptoms.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited autosomal recessive disorder.
  • Characteristic MRI findings include frontal and temporal subcortical cysts, with megalencephaly often detected early.

Observation:

  • This study details four patients with MLC, focusing on clinical and radiological features.
  • Seizures, reported as uncommon, were present in all observed patients.
  • One patient presented with moderately severe depression, a previously undescribed initial manifestation.

Findings:

  • All patients were diagnosed via characteristic MRI features.
  • Despite typical presentation, seizures were universally observed in this cohort.
  • Neuropsychiatric features, like depression, emerged as a potential presenting symptom.

Implications:

  • The findings expand the understanding of MLC's clinical spectrum and diagnostic markers.
  • Early diagnosis through MRI enables timely symptomatic management.
  • Further research into the prevalence of seizures and neuropsychiatric symptoms in MLC is warranted.
Keywords:
Megalencephalic leukoencephalopathysubcortical cystsvan der Knaap syndrome

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