Vacuoliting Megalencephalic Leukoencephalopathy
نویسندگان
چکیده
منابع مشابه
[Megalencephalic leukoencephalopathy with vanishing white matter and cystic formation].
We present three cases of megalencephalic leukoencephalopathy with vanishing white matter and cystic formation in both temporal lobes, diagnosed through magnetic resonance imaging. All the cases presented clinical and radiological aspects according to the diagnostic criteria that were established in the initial description of the syndrome. Clinical and radiological aspects are discussed.
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Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of n...
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OBJECTIVE Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile-onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation; GlialCAM ensures the correct membrane localization of MLC1. Their exact role in brain ion-water ho...
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A boy was diagnosed at age 10 months with megalencephalic leukoencephalopathy with subcortical cysts (MLC) based on progressive macrocephaly and characteristic MRI findings (figure, A–C). Over subsequent years, initial motor delays resolved and neurobehavioral difficulties were mild. On repeat MRI at 6 years (figure, D–F), only small areas of frontal and temporal white matter signal alteration ...
متن کاملMegalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation.
Received 28 August 2014; Received in final form 01 October 2014; Accepted 21 October 2014. Figure 1. (A), Axial T1-weighted image shows diffuse cerebral white-matter abnormalities with frontoparietal subcortical cysts (arrows). (B), Axial FLAIR image exhibits subcortical cysts (arrows) in the anterior temporal lobe intermingled with diffuse whitematter hyperintensity. (C) and (D), Axial T2-weig...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2001
ISSN: 0002-9297
DOI: 10.1086/318180