Infantile-onset megalencephalic leucoencephalopathy in two siblings

Infantile-onset megalencephalic. leucoencephalopathy (IML) is a recently re cognized autosomal recessive white matter disorder. Unlike other megalencep halic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioratio n are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showe d involvement of the capsula externa, extrema and interna, nucleus dentatus , cnrs cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobe s. There were no clear biochemical or metabolic disturbances. In the presen t paper, we discuss the clinical and neuroimaging findings of IML.