Original articleMegalencephalic leukodystrophy in an Asian Indian ethnic group
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Cited by (88)
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective
2018, European Journal of Medical GeneticsEight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
2015, European Journal of Medical GeneticsCitation Excerpt :No systematic study of the lifespan of patients with MLC has been performed. Some patients die in their teens or twenties, whereas others stay alive into their forties [Pascual-Castroviejo et al., 2005; Saijo et al., 2003; Singhal et al., 1996; Singhal et al., 2003]. There are differences in disease severity among patients with the same mutation [Gorospe et al., 2004; Goutières et al., 1996; Singhal 2005; Singhal et al., 2003] and sibling patients [Pascual-Castroviejo et al., 2005; Patrono et al., 2003; Singhal 2005; Singhal et al., 2003].
Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: Neuroimaging in the more common or recognizable disorders
2014, Seminars in Ultrasound, CT and MRICitation Excerpt :There have been many descriptions of such patients presenting in infancy with concerning macrocephaly, followed by mild motor delays that persist into late adolescence or adulthood; there are even descriptions of the first presentation being later in adolescence or early adulthood.206-211 MRI typically demonstrates diffuse WM abnormalities, particularly prominent in the subcortical regions, with relative sparing of the deeper structures207-211; in this author's estimation, the corpus callosum typically remains myelinated (although it may undergo atrophy) throughout the course of the disease (Fig. 22). Proton MRS may demonstrate a reduced NAA-Cr ratio along with an elevated Cho-Cr ratio, when measured within the affected deep WM; DTI demonstrates markedly high diffusivity and reduced FA level within affected WM.206-208 The differential for this appearance with megalencephalic leukoencephalopathy in infancy is Alexander disease, Canavan disease, and glutaric aciduria; however, as stated elsewhere within this review, those disorders are typically rapidly progressive when presenting in infancy, which is quite in contrast to MLC.209
Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients
2014, Pediatric NeurologyCitation Excerpt :Distinctive clinical and imaging features are characterized by macrocephaly detected either at birth or developed within the first year of life, often in association with motor developmental delay, ataxia, spasticity, seizures, and extrapyramidal manifestations.2,7 Brain magnetic resonance imaging (MRI) of diffuse swollen white matter with subcortical cysts in temporal or frontoparietal lobes are the diagnostic hallmarks of the disease.1,8-10 The clinical course and severity of the disease vary.8,11
An infant with seizures and macrocephaly
2013, Pediatric NeurologyLeukodystrophies with astrocytic dysfunction
2013, Handbook of Clinical Neurology