Mitochondrial myopathy is a disease caused by structural, biochemical or genetic disturbance of the mitochondria and this affects many organs, and it may also involve the cardiac muscles. We experienced a case of myocardial involvement in a 21 years old male patient with mitochondrial myopathy.
Cardiomyopathies ; Humans ; Male ; Mitochondria ; Mitochondrial Myopathies ; Myocardium

No abstract available.
Cleft Palate* ; Humans ; Lip* ; Mitochondrial Myopathies* ; Muscles*

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive, the main possibilities are thus far thought to be mitochondrial cytopathy and angiopathy. This case report describes a 61-year-old woman diagnosed with MELAS who presented simultaneously with vascular hyperemia and crossed cerebellar diaschisis.
Acidosis, Lactic ; Female ; Humans ; Hyperemia ; Kearns-Sayre Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Seizures

Mitochondrial encephalomyopathies are genetic defects affecting the mitochondrial respiratory chain. This case report describes the anesthetic considerations for a patient with mitochondrial disease undergoing renal transplantation. Special risk such as malignant hyperthermia as well as plausible anesthetic technique are addressed. This is the case of a 36 year old female previously diagnosed to have end stage renal disease secondary to chronic glomerulonephritis and mitochondrial disease who presented for renal transplantation. Anesthetic technique was general endotracheal anesthesia under total intravenous anesthesia. To avoid a life threatening sequelae associated with mitochondrial diseases, vigilance towards possible complications was undertaken.
Human ; Female ; Adult ; MITOCHONDRIAL ENCEPHALOMYOPATHIES ; KIDNEY TRANSPLANTATION ; KIDNEY FAILURE, CHRONIC ; MITOCHONDRIAL MYOPATHIES ; MITOCHONDRIAL DISEASES

Mitochondrial myopathy (MM) has been applied to muscle disease in which mitochondria have abnormal structure, function or both. To characterize the pathologic findings of MM, we examined the ultrastructural and histochemical findings of 24 cases of MM. The ultrastructures of the MM were characterized by abnormal mitochondria in number (pleoconia) and size (megaconia), and showed predominant accumulation of mitochondria in the subsarcolemmal space of myofibers in all cases. Mitochondria contained abnormally shaped cristae (concentric form and gyriform) in 79% of cases. Paracrystalline inclusion which was known to be a characteristics of MM were seen only in 7 cases (29%). Electron dense deposits were more frequently found (77%) in abnormal mitochondria of chronic progressive external opthalmoplegia and Kearn-Sayre syndrome. But, other findings were not specific for the specific clinical entities. On succinate dehydrogenase (SDH) stain, ragged red fibers (RRF) showed more intense positivity than modified Gomori-trichrome stain and definite strong reactive products were present along the periphery of myofibers which showed normal findings on modified Gomori-trichrome stain. In conclusion, ultrastructural findings such as mitochondria showing pleoconia with megaconia, and bizarre shaped cristae may be helpful for the diagnosis of MM and SDH stain is more useful for identification of RRF than modified Gomori-trichrome stains.
Coloring Agents ; Diagnosis ; Mitochondria ; Mitochondrial Myopathies* ; Succinate Dehydrogenase

No abstract available.
Anesthesia, General ; Child ; Humans ; Mitochondrial Myopathies ; Neuromuscular Blockade

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report a rare case of early onset MELAS patient confirmed by genetic analysis with Wolff-Parkinson-White syndrome.
Acidosis, Lactic ; DNA, Mitochondrial ; Humans ; MELAS Syndrome ; Mitochondrial Diseases ; Mitochondrial Encephalomyopathies ; Mitochondrial Myopathies ; Paresis ; Wolff-Parkinson-White Syndrome

MELAS is a mitochondrial respiratory chain disorder characterized by progressive neurodegeneration associated with stroke-like episode, increased plasma lactate levels and distinctive findings on neuroimaging studies. Hence we onset of right-sided hemiplegia accompanied by lactic acidosis and CT-Scan findings of diffuse hypodensity of the cerebral white matter at the time of the stroke-like episode. The diagnosis was confirmed by mutation analysis on blood and hair which showed the typical mtDNA A3243G mutation. This is the first local report of a confirmed case of MELAS.
Human ; Female ; Child Preschool ; MELAS SYNDROME ; MUSCULOSKELETAL DISEASES ; MUSCULAR DISEASES ; MITOCHONDRIAL MYOPATHIES ; MITOCHONDRIAL ENCEPHALOMYOPATHIES

The purpose of this study were 1) to determine the earliest pathological changes of germanium dioxide (GeO2)-induced myopathy; 2) to determine the pathomechanism of GeO2-induced myopathy; and 3) to determine the minimal dose of GeO2 to induce myopathy in rats. One hundred and twenty five male and female Sprague-Dawley rats, each weighing about 150 gm, were divided into seven groups according to daily doses of GeO2. Within each group, histopathological studies were done at 4, 8, 16, and 24 weeks of GeO2 administration. Characteristic mitochondrial myopathy was induced in the groups treated daily with 10 mg/kg of GeO2 or more. In conclusion, the results were as follows: 1) The earliest pathological change on electron microscope was the abnormalities of mitochondrial shape, size and increased number of mitochondria; 2) The earliest pathological change on light microscope was the presence of ragged red fibers which showed enhanced subsarcolemmal succinate dehydrogenase and cytochrome c oxidase reactivity; 3) GeO2 seemed to affect the mitochondrial oxidative metabolism of muscle fibers; 4) GeO2 could induce mitochondrial myopathy with 10 mg/kg of GeO2 for 4 weeks or less duration in rats.
Animal ; Cytochrome-c Oxidase/metabolism ; Female ; Germanium/toxicity* ; Histocytochemistry ; Male ; Mitochondrial Myopathies/pathology ; Mitochondrial Myopathies/enzymology ; Mitochondrial Myopathies/chemically induced* ; Muscles/ultrastructure ; Muscles/enzymology ; Rats ; Rats, Sprague-Dawley ; Succinate Dehydrogenase/metabolism