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PURPOSE We reviewed retrospectively our experiences with children with intractable epilepsy who were indicated for a modified Atkins diet (MAD). METHODS Twenty children (8 female, 12 male) who were aged 2-17 years with intractable epilepsy and tried the MAD between September 2008 and December 2010 were enrolled. Outcome measures included seizure(More)
Ohtahara syndrome (OS) is known as an intractable epileptic syndrome in neonatal and early infantile period, differentiated from early myoclonic encephalopathy (EME) in its etiology. We report a patient with OS associated with mitochondrial respiratory chain complex (MRC) I defect. With ketogenic diet and mitochondrial cocktail therapy, seizures were(More)
A child's health inevitably affects the parents' psychologic health and quality of life, especially for mothers of disabled children. Caregiver burden and health-related quality of life were investigated in mothers of children with mitochondrial disease, compared with mothers of children with intractable epilepsy. Mothers of children with mitochondrial(More)
OBJECTIVES This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches. METHODS A retrospective analysis of the medical, electroencephalogram, and laboratory records of 142 patients with epilepsy was performed. The patients were evaluated for MD, and 124 patients(More)
PURPOSE Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic spectral changes using proton MR spectroscopy (MRS), and to establish a way to monitor ME by neuroimaging. MATERIALS AND METHODS Proton MRS data were(More)
PURPOSE To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. METHODS We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through(More)
Mitochondrial disease is an energy metabolic disorder with various organ involvement. Iron is widely known to be one of the most important nutriments required for normal brain development and several essential metabolic functions. We retrospectively studied the laboratory data on iron deficiency (ID) in 69 children with mitochondrial respiratory chain(More)
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronically progressive or relapsing symmetric sensorimotor disorder presumed to occur because of immunologic antibody-mediated reactions. To understand the clinical courses of CIDP, we report variable CIDP courses in children with respect to initial presentation, responsiveness to medical(More)
Neuroimaging studies of patients with GM2 gangliosidosis are rare. The thalamus and basal ganglia are principally involved in patients affected by the infantile form of GM2 gangliosidosis. Unlike in the infantile form, in juvenile or adult type GM2 gangliosidosis, progressive cortical and cerebellar atrophy is the main abnormality seen on conventional(More)