Megalencephalic leokoencephalopathy with subcortical cysts

Case contributed by Dr Utkarsh Kabra

Presentation

Ataxia

Patient Data

Age: 35 years
Gender: Female

Diffuse T2 / FLAIR hyperintensity in bilateral cerebral parenchymal white matter, involving subcortical deep fibers, with multiple cysts in bilateral frontoparietal and anterior temporal lobes.
Bilateral lateral, third ventricles and convexity sulci are prominent, suggesting cerebral atrophy.
Diffuse thinning of corpus callosum is seen.

Case Discussion

Overall findings are suggestive of megalencephalic leukoencephalopathy with subcortical cysts.

The patient belongs to the 'Agarwal' community of India who are predisposed to this disease.

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