1/14. Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia.A 34-year-old previously healthy woman with no remarkable family history developed asymptomatic hyperCKemia at age 26. Over the next 6 years, hyperCKemia persisted (502-2562 IU/l; normal range<180). A muscle biopsy showed minimal nonspecific myopathy. Genetic analysis of blood and muscle samples showed no abnormality in the dystrophin gene. At age 33, she became pregnant for the first time and serum creatine kinase (CK) was normal at 170 IU/l in the third trimester. After delivery, hyperCKemia reappeared (715-2620) while her baby tested normal for CK. This is the first report of idiopathic hyperCKemia associated normalization of serum CK level during pregnancy, which has been reported in carriers of Duchenne muscular dystrophy.- - - - - - - - - - ranking = 1keywords = muscular dystrophy, myopathy, dystrophy (Clic here for more details about this article) |
2/14. Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.Two pediatric patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes were diagnosed with growth hormone deficiency with the primary lesion identified as the growth hormone-releasing factor producing cells of the hypothalamus. Stimulation tests with insulin, levodopa and sleep did not overcome the deficient pattern of growth hormone secretion. By comparison, the growth hormone-releasing factor stimulation test generated a normal growth hormone response in these two patients. growth hormone supplementary therapy was effective in terms of growth gain without adverse effects.- - - - - - - - - - ranking = 0.78042692777389keywords = myopathy (Clic here for more details about this article) |
3/14. Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.A 12-year-old girl was shown to have carnitine-deficient lipid storage myopathy and organic aciduria compatible with multiple acylcoenzyme A (acyl-CoA) dehydrogenase deficiency. In muscle mitochondria, activities of both short-chain acyl-coa dehydrogenase (SCAD) and medium-chain acyl-coa dehydrogenase (MCAD) were 35% of normal. antibodies against purified SCAD, MCAD, and electron-transfer flavoprotein were used for detection of cross-reacting material (CRM) in the patient's mitochondria. Western blot analysis showed absence of SCAD-CRM, reduced amounts of MCAD-CRM, and normal amounts of electron-transfer flavoprotein-CRM. The patient, who was unresponsive to treatment with oral carnitine, improved dramatically with daily administration of 100 mg oral riboflavin. Increase in muscle bulk and strength and resolution of the organic aciduria were associated with normalization of SCAD activity and "reappearance" of SCAD-CRM. In contrast, both MCAD activity and MCAD-CRM remained lower than normal. These results suggest that in some patients with multiple acyl-coa dehydrogenase deficiency riboflavin supplementation may be effective in restoring the activity of SCAD, and possibly of other mitochondrial flavin-dependent enzymes.- - - - - - - - - - ranking = 0.78042692777389keywords = myopathy (Clic here for more details about this article) |
4/14. Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.Several patients with lipid storage myopathies have been described, although in most cases the biochemical defect is unclear. A child is reported who presented with severe muscle weakness at age six months. She had lipid storage myopathy due to glutaric aciduria type II. It is probable that her brother died from the same disorder at the age of three months. She has responded well to treatment with a low-fat diet, riboflavin, carnitine and glycine.- - - - - - - - - - ranking = 1.404768469993keywords = myopathy (Clic here for more details about this article) |
5/14. Systemic triglyceride storage disease with normal carnitine: a putative defect in long-chain fatty acid metabolism.A 45-year-old Japanese man presented with lipid storage myopathy, fatty liver, cardiomyopathy, vacuolated leukocytes (Jordans' anomaly) and perceptive deafness. His parents were consanguineous and his younger sister was also affected. Histopathological and biochemical studies revealed an abnormal accumulation of triglyceride in muscle, liver, leukocytes, gastrointestinal endothelial cells and cultured skin fibroblasts. On electron microscopy, the vacuoles lacked limiting membranes and were adjacent to the mitochondria. Total and free carnitines in muscle were normal levels. Production rate of 14CO2 or acid-soluble [14C]metabolites from [1-14C]palmitate in the patient's cells was decreased to about 50% of that in control cells, whereas that from [1-14C]butyrate was normal. Long-chain fatty acyl esterase activities in the patient's leukocytes were normal at both pH 4.0 and pH 8.0. Despite the strong suggestion of an impaired metabolism of long-chain fatty acids, there were no evidences of abnormalities in carnitine metabolism or uptake of fatty acids into cells. The disorder is clinically different from defects in carnitine metabolism, defects in the carnitine-acylcarnitine translocase system or in mitochondrial beta-oxidation enzymes. Although the underlying metabolic defect has not been elucidated, this disease seems to be an autosomal-recessively inherited disorder of systemic triglyceride storage, probably due to an impaired regulation of lipolysis and triacylglycerol synthesis.- - - - - - - - - - ranking = 0.31217077110956keywords = myopathy (Clic here for more details about this article) |
6/14. Lipid storage myopathy associated with recurrent reye syndrome-like attacks, but with a normal carnitine level.A 7-year-old girl developed recurrent episodes of hepatic and cerebral dysfunction which mimicked those in reye syndrome (RS). Because of mild muscle weakness, she had repeated muscle biopsies which showed markedly increased amounts of lipid droplets, predominantly in type 1 fibers. Liver histological examination showed widespread hepatocellular steatosis. However, diffuse microvesicular fat, seen in RS, was not found in the cytoplasm. The concentrations of free- and acylcarnitine in serum and muscle were within normal ranges. Normal ketogenesis was induced by fasting. Based on the clinical, laboratory, and histopathological findings, our patient was initially thought to have systemic carnitine deficiency. However, the serum and muscle carnitine levels were within normal limits. Although the primary metabolic defect has yet to be elucidated, the present study indicates that lipid storage myopathy in the absence of carnitine deficiency can be complicated with RS-like episodes.- - - - - - - - - - ranking = 0.78042692777389keywords = myopathy (Clic here for more details about this article) |
7/14. Pediatric orthopedic pain of unknown origin.Thirty-eight cases of musculoskeletal pain in a pediatric population that defied diagnosis are reviewed. The time between the onset of symptoms and the final diagnosis averaged 11.4 months, but in many cases was greater than 1 year. The most common diagnoses included reflex sympathetic dystrophy, osteoid osteoma, osteomyelitis, intraarticular hemangiomata, slipped epiphyses, and rheumatoid variants. There were several uncommon causes of pain, such as soft tissue hemangiomata, dystonia, and addison disease. The pitfalls and causes of error are reviewed.- - - - - - - - - - ranking = 0.037966492197836keywords = dystrophy (Clic here for more details about this article) |
8/14. Metabolic myopathies.The most frequent metabolic myopathies of children and adults (glycogenoses; neutral fat myopathies; "mitochondrial" myopathies) are reviewed. In glycogenoses and neutral fat myopathies the most prominent histological feature is represented by a vacuolation of muscle fibres, vacuoles being filled with glycogen or neutral fat. Enzyme defects of glycogenoses are known. In some neutral fat myopathies, an involvement of carnitine metabolism can be found; in many other cases, biochemical investigations have failed to identify the enzyme defect(s), or have demonstrated the contemporaneous involvement of mitochondria ("mitochondrial" myopathy). The large group of "mitochondrial" myopathies is built up of many heterogeneous polygenetic syndromes, the appearance of which signalises only an impaired mitochondrial function due to underlying biochemical defect(s). In these cases, accumulations of mitochondria in muscle fibres, easily recognisable with trichrome stain ("ragged-red fibres") may be found. These mitochondria usually present very peculiar ultrastructural changes ("paracrystalline inclusions"). One of the leading clinical symptoms of metabolic myopathies is represented by myoglobinuria. In every case of "idiopathic" rhabdomyolysis, a metabolic myopathy should hence be suspected. The negative result of histological and enzymehistochemical investigations, does not exclude the presence of a metabolic disorder, however. research in this field requires a very strong cooperation between morphologists and biochemists. Future therapeutical approaches can in fact only come from and through biochemistry.- - - - - - - - - - ranking = 0.31217077110956keywords = myopathy (Clic here for more details about this article) |
9/14. riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.A 17-year-old girl with progressive lipid-storage myopathy for 2 years had low muscle carnitine levels. There was no therapeutic response to prednisone and DL-carnitine-HCl. Chemical findings indicated glutaric aciduria type II. riboflavin therapy and a fat-restricted, carbohydrate-enriched diet resulted in dramatic improvement. Low carnitine concentrations in plasma and muscle were observed in three asymptomatic sisters who had normal urinary excretion patterns. There was impaired mitochondrial beta-oxidation in cultured skin fibroblasts from the index patient and all three siblings.- - - - - - - - - - ranking = 0.78042692777389keywords = myopathy (Clic here for more details about this article) |
10/14. The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.amniocentesis was performed in two women heterozygous for adrenoleukodystrophy (ALD). One fetus was male, and the hexacosanoic acid (C26) level in the cultured amniotic cells was 0.808 microgram per mg of protein, compared to 0.104 /- 0.069 (S.D.) in controls. pregnancy was interrupted at 22 wk gestation. The fetal adrenal cortex showed the ultrastructural inclusions characteristic of ALD and C26 accounted for 35% of the fatty acids in the cholesterol esters extracted from this tissue, more than one thousand times control. The second amniocentesis was performed in a woman who was also heterozygous for an electrophoretic variant of glucose 6- phosphate dehydrogenase (G6PD), and a member of a kindred showing genetic linkage of loci for ALD and G6PD. The fetus was female and the C26 level in cultured amniotic cells was 0.577. pregnancy was interrupted at 11 wk for reasons unrelated to ALD. Study of C26 level and G6PD type in cultured fetal tissues confirmed heterozygosity for ALD.- - - - - - - - - - ranking = 0.18983246098918keywords = dystrophy (Clic here for more details about this article) |
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