title: Infantile-onset megalencephalic leucoencephalopathy in two siblings.
abstract: Infantile-onset megalencephalic leucoencephalopathy (IML) is a recently recognized autosomal recessive white matter disorder. Unlike other megalencephalic leucoencephalopathies, in patients with IML a mild clinical course, a slowly progressive delay in motor development and mild mental deterioration are typical. We report on two affected siblings who have typical clinical and radiological findings of IML. Cranial magnetic resonance imaging showed involvement of the capsula externa, extrema and interna, nucleus dentatus, crus cerebri, periventricular and subcortical white matter. In addition, bilateral cystic changes were determined predominantly in the temporal lobes. There were no clear biochemical or metabolic disturbances. In the present paper, we discuss the clinical and neuroimaging findings of IML.
authors: Department of Pediatrics, Turgut Ozal Medical Center, Inönü University, Malatya, Turkey. hasoylu@hotmail.com
authors: H
authors: H
authors: Soylu
authors: A
authors: A
authors: Yüksel
authors: N O
authors: NO
authors: Kutlu
authors: M
authors: M
authors: Aydinli
authors: M
authors: M
authors: Seven
authors: H
authors: H
authors: Mocan
mesh_terms: D001921:Brain / Q000473:pathology*; D002508:Cephalometry; D002648:Child; D003241:Consanguinity; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures