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Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high… (More)
Krabbe disease is a lysosomal disorder resulting in the accumulation of galactocerebroside and psychosine in macrophages; the condition is associated with demyelination and dysmyelination of the cerebral white matter . A 7-month-old male infant was admitted to our clinic because of hyperirritability that had developed when he was 3 months of age and… (More)
Subacute sclerosing panencephalitis (SSPE) is a devastating disease of the central nervous system (CNS) caused by persistent mutant measles virus infection. The diagnosis of SSPE is based on characteristic clinical and EEG findings and demonstration of elevated antibody titres against measles in cerebrospinal fluid. Subacute sclerosing panencephalitis can… (More)
Background: The electroencephalographic patterns can be associated with brain imaging and outcome in children with acute encephalopathy. A rigorous association of electroencephalography and imaging findings and outcome of pediatric encephalopathy is lacking.
Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical… (More)
Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with… (More)