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AIM Mitochondrial disease is a heterogeneous disorder entity induced by defects in mitochondrial respiratory chain complex (MRC). A significant portion of patients with MRC defect will not conform to a specific, known syndrome. We have analysed the clinical features of 108 Korean paediatric patients with non-specific and non-categorized mitochondrial(More)
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)
PURPOSE To determine if defects in mitochondrial respiratory chain enzyme complexes (MRCs) contribute to the etiology of childhood epilepsy. METHODS We reviewed the clinical and laboratory features of 48 epileptic patients (23 male, 25 female) with MRC defects that were confirmed by biochemical assays using muscle biopsies. RESULTS (1) Thirty-five cases(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)
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)
UNLABELLED Peripheral venous access in infants and children is technically challenging, because their veins are small and located deep in subcutaneous tissue, which makes them difficult to palpate or visualize. The VeinViewer® (Luminetx Corporation, Memphis, TN, USA) is a near-infrared light device that delineates the running course of subcutaneous veins.(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)
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 The ketogenic diet (KD) has been considered a highly potent antiepileptic treatment for intractable childhood epilepsy. In this study, we compared the antiepileptic efficacy and diet tolerability of two different diets with lipid:nonlipid ratios of 3:1 and 4:1. METHODS Seventy-six patients with refractory childhood epilepsy were randomly placed(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)