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

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[Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases]

S Jerbi Omezzine1, H Ben Ameur, R Bousoffara

  • 1Service de Radiologie, CHU Tahar Sfar Mahdia, Tunisia. saidajerbi@topnet.tn

Journal De Radiologie
|September 6, 2008
PubMed

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (Van der Knapp disease) is a rare neurological disorder. Diagnosis is aided by MRI, revealing white matter lesions and subcortical cysts, alongside macrocephaly and epilepsy.

Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder.
  • Also known as Van der Knapp disease, it presents with macrocephaly, epilepsy, and progressive spastic cerebellar syndrome.

Observation:

  • This report details four cases of MLC from two distinct families.
  • The study highlights the characteristic MRI findings of diffuse white matter lesions and subcortical cysts.

Findings:

  • The gene responsible for MLC, MLC1, is located on chromosome 22.
  • MRI is a crucial diagnostic tool for identifying the characteristic white matter abnormalities and cysts.

Implications:

  • This research contributes to understanding the genetic basis and clinical presentation of Van der Knapp disease.
  • Further research into MLC1 may lead to improved diagnostic strategies and potential therapeutic targets for this rare leukoencephalopathy.

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