Megalencephalic Leukoencephalopathy with Subcortical Cysts and Macrocephaly: A Case Report
نویسندگان
چکیده
منابع مشابه
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. Recessive MLC1 mutations are observed in 75% of patients with MLC. Genetic-linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others...
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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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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...
متن کاملTwo cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population.
Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confir...
متن کاملFunctional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, MIM# 604004) is an autosomal recessive inherited disease mostly resulting from MLC1 mutations. In this study, we finished the functional analysis of MLC1 mutations identified recently in Chinese patients, including five newly described missense mutations (R22Q, A32V, G73E, A275T, Y278H), one known nonsense mutation (Y198X), and tw...
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ژورنال
عنوان ژورنال: Turkish Journal of Pediatric Disease
سال: 2014
ISSN: 1307-4490,2148-3566
DOI: 10.12956/tjpd.2014.90