A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mi...

itochondrial cardiomyopathy is one of the main features in patients with mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, and it determines the prognosis, as well as encephalopathy.1–3 In particular, an A-to-G transition mutation at nucleotide position 3243 (A3243G) in mtDNA, which was originally discovered in patients with mitochondrial myopathy, encephalopathy, lactic aci...

Skeletal muscle dysfunction is highly prevalent and one of the earliest pathological tissue changes among people with at-risk alcohol use. Clinical studies to elucidate pathophysiological mechanisms alcohol-mediated disease are hampered due ethical considerations, confounded by nutritional, lifestyle, comorbid conditions. Rodent models have been developed study impact consumption end organ inju...

Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly under metabolic stress. We report 2 siblings with MELAS-associated idiopathic scoliosis who underwent posterior spinal instrumented fusion with me...