recurrent rhabdomyolysis workup

Apreviously healthy white 29-year-old man presented to the emergency department with a one-day history of diffuse muscle aches and dark urine following a four-hour hockey game. Postictal serum creatine kinase in the diagnosis of seizure disorders. Myopathy as the persistently isolated symptomatology of primary autoimmune hypothyroidism. If a clinician suspects that rhabdomyolysis is caused by a disorder of fatty acid β-oxidation, investigations should begin with testing of fasting blood glucose and lactate levels, as well as a simple screening test known as the acylcarnitine profile.8,9 The profile is measured using tandem mass spectrometry and can identify more than 20 different metabolic defects of fatty acid and organic acid metabolism.8,9 The acylcarnitine profile can be measured in a bloodspot (in which a small amount of blood is spotted into filter paper, similar to the technique used to perform screening in newborns) or measured in serum.8,9 This test can be done at all laboratories that perform screening in newborns, and therefore clinicians everywhere in the country can access this simple and inexpensive test. ... electrolyte disturbances, exposure to drugs and toxins, and primary metabolic disorders. He described triggers for muscle aches including a long delay between meals, intake of alcohol, exposure to cold temperature, sleep deprivation and prolonged intense exercise, although he was able to tolerate up to 1.5 hours of moderate exercise without symptoms. There were no fibrillations or positive sharp waves noted in any muscles examined. At 2 and 3 years of age, he had similar episodes. In the event of recurrent rhabdomyolysis, details regarding familial … Don't have a https://www.gmjournal.co.uk account? Hoffmann syndrome—hypothyroidism associated with muscle stiffness, myotonia and pseudohypertrophy in adults. The last two associations occur most commonly with carnitine palmitoyltransferase deficiency and the other disorders of lipid metabolism. A diagnostic approach to recurrent myalgia and rhabdomyolysis in children Arch Dis Child. Ann Endocrinol (Paris). Sandra Sirrs has received payment for lectures from Shire Human Genetics Therapies, Genzyme Canada and Actelion Pharmaceuticals, and is an investigator for the Canadian Fabry Disease Initiative, which is funded jointly by the 10 provincial governments, Genzyme Canada and Shire Human Genetics Therapies. A rare condition, rhabdomyolysis is a muscle injury where the muscles break down. Fasciotomy may be required for compartment syndrome. The biopsy did not show evidence of a primary inflammatory process. Rhabdomyolysis is a clinical syndrome characterized by rapid breakdown of striated muscle tissue with release of intracellular products such as myoglobin. To receive any of the resources on this site in an accessible format, please contact us at cmajgroup@cmaj.ca. This is a life-threatening condition. very Long-Chain Acyl-Coenzyme A dehydrogenase deficiency, carnitine deficiency), Inflammatory muscle disease (polymyositis/dermatomyositis), Drugs (eg. Conflicts of interest None to declare for all authors. Recurrent rhabdomyolysis associated with polydipsia-induced hyponatremia - a case report and review of the literature. There were no skin changes suggestive of dermatomyositis. However, recurrent rhabdomyolysis is often genetic in nature. Rhabdomyolysis is a potentially life threatening condition and requires careful management especially monitoring for renal failure, electrolyte disturbances, cardiac arrhythmias and coagulopathy. Myoglobin is the protein that stores oxygen in your muscles. 29(2):172-4. Rarely, acute myopathy with acute hypothyroidism following treatment with radio-iodine. Recurrent episodes of rhabdo - myolysis are often a sign of an underlying defect in muscle metabolism. A primary myopathic process is unlikely here due to intermittent episodes and spontaneous resolution. Serial tests for creatine kinase levels should be done every 6–12 hours, with a usual peak in 24 hours and a gradual decline thereafter. Some defects of fatty acid β-oxidation are common especially in Canadian Aboriginal populations, although the clinical significance of this finding is not yet clear. Hypothyroidism and muscular respiratory failure successfully treated with liothyronine. Because the triggers he listed for his symptoms suggested a disorder of fatty acid β-oxidation, an acylcarnitine profile was performed, which was suggestive of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Medium-chain acyl-coenzyme A dehydrogenase deficiency, one of the inborn errors of metabolism that can present with sudden infant death syndrome, was the first disorder of fatty acid β-oxidation to be added to newborn screening panels around the world.11,12 Once newborn screening for MCAD was in place, data were published showing that the prevalence of MCAD deficiency of roughly 1/10 000 ascertained through newborn screening was three to four times higher than that ascertained through clinical presentation.11,12 This discrepancy suggests that a large number of patients with MCAD deficiency may not receive diagnoses in childhood.

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