Global Developmental Delay in a Mexican Patient With Megalencephalic Leukoencephalopathy With Subcortical Cysts
نویسندگان
چکیده
منابع مشابه
Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts
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...
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...
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...
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 کاملMolecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).
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ژورنال
عنوان ژورنال: Journal of Pediatrics Review
سال: 2015
ISSN: 2322-4401,2322-4398
DOI: 10.17795/jpr-2808