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If the diagnostic criteria of diarrhea-associated hemolytic uremic syndrome (D+HUS) are not carefully considered, cause of acute renal damage can be missed out and treatment may be delayed. Rhabdomyolysis refers to breakdown of skeletal muscle due to various reasons that leads to leakage of muscle contents (myoglobine, creatinine kinase etc.) into the circulation and causes acute renal damage. The classic triad of symptoms includes muscle pain, weakness and dark urine. Rhabdomyolysis should be considered in the patient with severe muscle pain, weakness and acute renal damage. Here we report a case that was sent our hospital with the diagnosis of D+HUS, however diagnosed with acute renal damage caused by rhabdomyolysis. [ABSTRACT FROM AUTHOR]

Rhabdomyolysis is a syndrome caused by injury to skeletal muscle that usually leads to acute kidney injury (AKI). Rhabdomyolysis has been linked to different conditions, including severe trauma and intense physical exercise. Myoglobin-induced renal toxicity plays a key role in rhabdomyolysis-associated kidney damage by increasing oxidative stress, inflammation, endothelial dysfunction, vasoconstriction, and apoptosis. New drugs that target the harmful effects of myoglobin have been recently developed, and some have been proven to be successful in animal models of acute renal failure secondary to rhabdomyolysis. This review aims to provide a comprehensive and updated overview of the pathological mechanisms of renal damage and describes new therapeutic approaches to this condition based on novel compounds that target key pathways involved in myoglobin-mediated kidney damage. © 2015 The Author(s) Published by S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity. In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM. A rabdomiólise (RM) é um evento agudo e grave, caracterizado por danos do músculo esquelético com a liberação, em grande quantidade, de componentes intracelulares para a corrente sanguínea. Uma vasta gama de causas tem sido relatada, incluindo trauma, abuso de drogas e infecções. Doenças hereditárias também podem causar RM, mas muitas vezes representam um desafio diagnóstico, considerando a sua heterogeneidade e raridade. Por fim, diversas doenças neuromusculares costumam estar associadas com níveis de CK cronicamente elevados, dificultando a identificação correta dos episódios de RM. Nesse artigo, revisamos os diversos defeitos genéticos associados à RM. Cada gene foi revisado abrangendo os seguintes: fenótipo clínico, gatilhos para RM e abordagem diagnóstica. O objetivo desta revisão é destacar as características mais importantes associados a defeitos genéticos específicos, a fim de auxiliar o diagnóstico de pacientes com causas hereditárias de RM recorrente. [ABSTRACT FROM AUTHOR]

Myoglobinuric acute renal failure is the most important life threatening complication of rhabdomyoly- sis. Iron, free radicals, nitric oxide and cytochrome p450 are involved in the pathogenesis of mARF. The aim of this study is to compare the effect of cimetidine, L-carnitine and both agents together on mARF in rats. Forty rats were divided into 5 groups; group I: control rats, group II: myoglobinuric ARF rats, group III: mARF rats received L-carnitine (200 mg/kg, i.p.), group IV: mARF rats received cimetidine (150 mg/kg i.p.) and group V: mARF rats received both agents together. 48 h after glycerol injection, systolic blood pressure was measured. Urine and blood samples were collected to evaluate urine volume, GFR, BUN, creatinine, K, Na, serum creatine kinase, NO and glutathione levels. Kidney specimens were taken to investigate renal cytochrome p450 and for histological examinations. Cimetidine treatment significantly decreased creatinine, BUN, K, Na, SBP and creatine kinase and increased GFR and urine volume compared to group II. L-carnitine exerted similar changes except for the effect on K and GFR. NO was significantly decreased, while renal glutathione and cytochrome p450 were significantly increased in groups treated with L-carnitine or cimetidine as compared to group II. Combined treatment further improved renal functions, creatine kinase, oxidative stress parameters and SBP as compared to each therapy alone. The histological changes confirmed the biochemical findings. Cimetidine and L-carnitine have protective effects - almost equally - against mARF. Using both agents together, minimises the renal injury. [ABSTRACT FROM AUTHOR]

Objective: To report a case of rhabdomyolysis possibly caused by interaction of ticagrelor with high-dose atorvastatin. Summary: A 62-year-old woman originally from India underwent uncomplicated percutaneous coronary intervention following ST-elevation myocardial infarction. The patient was discharged on a secondary prevention drug regimen that included ticagrelor 90 mg twice daily, atorvastatin 80 mg once daily, metoprolol 25 mg twice daily, and aspirin 81 mg daily. Two months later, the patient was readmitted with complaints of muscle pain, nausea, vomiting, and poor oral intake. The patient was diagnosed with rhabdomyolysis based on her symptoms combined with elevated creatine kinase, urine myoglobin, and serum creatinine. Intravenous fluids were initiated and atorvastatin held. Throughout the second hospital stay, serial laboratory values revealed a decrease in creatine kinase and resolution of acute kidney injury and muscle pain. The patient was discharged on aspirin and clopidogrel. Low-dose statin therapy was started at a follow-up appointment with close monitoring without recurrence of rhabdomyolysis. Results: A drug interaction between the cytochrome P450 3A4 inhibitor ticagrelor and substrate atorvastatin 80 mg may have precipitated development of rhabdomyolysis in this patient. The probability of this drug interaction is rated as "possible" on both the Naranjo Adverse Drug Reaction Probability Scale and the Drug Interaction Probability Scale. Conclusion: Rhabdomyolysis was observed possibly because of a drug interaction between once-daily ticagrelor and atorvastatin 80 mg. Clinicians need to be aware of this possible drug interaction via CYP3A4 and potential complications. [ABSTRACT FROM AUTHOR]

Background: Postconditioning is a novel reperfusion technique to reduce ischemia-reperfusion injuries. The aim of the study was to investigate this method in an animal model of lower limb revascularization for purpose of preventing postoperative renal failure. Methods: Bilateral lower limb ischemia was induced in male Wistar rats for 3 hours by infrarenal aorta clamping under narcosis. Revascularization was allowed by declamping the aorta. Postconditioning (additional 10 sec reocclusion, 10 sec reperfusion in 6 cycles) was induced at the onset of revascularization. Myocyte injury and renal function changes were assessed 4, 24 and 72 hours postoperatively. Hemodynamic monitoring was performed by invasive arterial blood pressure registering and a kidney surface laser Doppler flowmeter. Results: Muscle viability studies showed no significant improvement with the use of postconditioning in terms of ischemic rhabdomyolysis (4 h: ischemia-reperfusion (IR) group: 42.93 ± 19.20% vs. postconditioned (PostC) group: 43.27 ± 27.13%). At the same time, renal functional laboratory tests and kidney myoglobin immunohistochemistry demonstrated significantly less expressed kidney injury in postconditioned animals (renal failure index: 4 h: IR: 2.37 ± 1.43 mM vs. PostC: 0.92 ± 0.32 mM; 24 h: IR: 1.53 ± 0.45 mM vs. PostC: 0.77 ± 0.34 mM; 72 h: IR: 1.51 ± 0.36 mM vs. PostC: 0.43 ± 0.28 mM), while systemic hemodynamics and kidney microcirculation significantly improved (calculated reperfusion area: IR: 82.31 ± 12.23% vs. PostC: 99.01 ± 2.76%), and arterial blood gas analysis showed a lesser extent systemic acidic load after revascularization (a defined relative base excess parameter: 1st s: IR: 2.25 ± 1.14 vs. PostC: 1.80 ± 0.66; 2nd s: IR: 2.14 ± 1.44 vs. PostC: 2.44 ± 1.14, 3rd s: IR: 3.99 ± 3.09 vs. PostC: 2.07 ± 0.82; 4th s: IR: 3.28 ± 0.32 vs. PostC: 2.05 ± 0.56). Conclusions: The results suggest a protective role for postconditioning in major vascular surgeries against renal complications through a possible alternative release of nephrotoxic agents and exerting a positive effect on hemodynamic stability. [ABSTRACT FROM AUTHOR]

Rhabdomyolysis and myoglobinuria are a rare complication of dermatomyositis. Such patient can land up in acute renal failure. Recognition of this fact has important therapeutic implications as patients require immunotherapy in addition to the symptomatic treatment for renal failure. We report a case of dermatomyositis with evidence of rhabdomyolysis and myoglobinuria presenting with acute renal failure. The patient responded dramatically to corticosteroid therapy.

Rhabdomyolysis is the result of skeletal muscle tissue injury and is characterized by elevated creatine kinase levels, muscle pain, and myoglobinuria. It is caused by crush injuries, hyperthermia, drugs, toxins, and abnormal metabolic states. This is often difficult to diagnose perioperatively and can result in renal failure and compartment syndrome if not promptly treated. We report a rare case of inadvertent rhabdomyolysis and compartment syndrome in a bodybuilder undergoing minimally invasive cardiac surgery. The presentation, differential diagnoses, and management are discussed. Hyperkalemia may be the first presenting sign. Early recognition and management are essential to prevent life-threatening complications. [ABSTRACT FROM AUTHOR]

Myoglobin is dark red colour heme containing protein, stored in muscle. Change in permeability of myolemma causes myoglobin leak in plasma, which is cleared by kidney swiftly. Differentiating myoglobinuria from hemoglobinuria is important. Clinicians concern over myoglobinuria is to protect the patient from acute renal disease. We present a case of primary myoglobinuria, its clinical symptoms, diagnosis and treatment. [ABSTRACT FROM AUTHOR]

The article presents a case of toxic skeletal myonecrosis and myoglobinuria in a cow. It highlights gross and histologic findings indicating possible skeletal muscle damage and consequent myoglobinuria. Detection of a plant in the pasture or a contaminant of crop weeds suggests that toxic myonecrosis may be attributed to S occidentalis poisoning.

McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence of myophosphorylase activity in skeletal muscle biopsies and genetic analysis of the myophosphorylase-encoding gene, PYGM . The recently reported association between myophosphorylase and Rac1 GTPase in a T lymphocyte cell line prompted us to study myophosphorylase expression in white blood cells (WBCs) from 20 healthy donors and 30 McArdle patients by flow cytometry using a fluorescent-labeled PYGM antibody. We found that T lymphocytes expressed myophosphorylase in healthy donors, but expression was significantly lower in McArdle patients ( p < 0.001). PYGM mRNA levels were also lower in white blood cells from McArdle patients. Nevertheless, in 13% of patients (who were either heterozygotes or homozygotes for the most common PYGM pathogenic mutation among Caucasians (p.R50X)), the percentage of myophosphorylase-positive white blood cells was not different compared with the control group. Our findings suggest that analysis of myophosphorylase expression in white blood cells might be a useful, less-invasive, complementary test for diagnosing McArdle disease. [ABSTRACT FROM AUTHOR]

Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illnesses. We show that the underlying mechanism involves an exacerbation of aldolase A deficiency at high temperatures that affected myoblasts but not erythrocytes. The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. Lipid droplets accumulated in patient myoblasts relative to control and this was increased by cytokines, and reduced by dexamethasone. Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease. [ABSTRACT FROM AUTHOR]

Metabolic myopathies refer to a group of heterogeneous hereditary muscle disorders associated with known enzymatic defects. These conditions affect the ability of muscle fibers to maintain adequate energy and adenosine triphosphate (ATP) concentrations. Conventionally these diseases are grouped into abnormalities of lipid, glycogen, purine or mitochondrial metabolism. This review will focus on current diagnosis and management of pediatric patients presenting with a suspected metabolic myopathy. [ABSTRACT FROM AUTHOR]

Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine kinase activity of at least 10 times the upper limit of normal followed by a rapid decrease of the sCK level to (near) normal values. The clinical presentation can vary widely, classical features are myalgia, weakness and pigmenturia. However, this classic triad is seen in less than 10% of patients. Acute renal failure due to acute tubular necrosis as a result of mechanical obstruction by myoglobin is the most common complication, in particular if sCK is >16.000 sp="0.25" IU/l, which may be as high as 100,000 sp="0.25" IU/l. Mortality rate is approximately 10% and significantly higher in patients with acute renal failure. Timely recognition of rhabdomyolysis is key for treatment. In the acute phase, treatment should be aimed at preserving renal function, resolving compartment syndrome, restoring metabolic derangements, and volume replacement. Most patients experience only one episode of rhabdomyolysis, mostly by substance abuse, medication, trauma or epileptic seizures. In case of recurrent rhabdomyolysis, a history of exercise intolerance or a positive family history for neuromuscular disorders, further investigations are needed to identify the underlying, often genetic, disorder. We propose a diagnostic algorithm for use in clinical practice. [ABSTRACT FROM AUTHOR]

Background Interpretation of pediatric electromyography interpretation in myopathic disorders is technically challenging. We assessed our electromyographic experience with respect to sensitivity and specificity in pediatric myopathy. Methods We did a retrospective chart review of patients ≤18 years between 2009 and 2013. Two hundred twenty-four electromyographic studies were reviewed with the following referral diagnoses: myopathy, muscle weakness, neuromuscular disorders, myositis, myalgia, myoglobinuria, myasthenia, myotonia, cramps, periodic paralysis, hypotonia, and developmental delay. Only children who had an electromyography and muscle biopsy were included for analysis. Patients with neurogenic electromyography and neuromuscular junction disorders were excluded. Myopathic electromyography was defined as short duration, low amplitude, polyphasic motor unit potentials with rapid recruitment. Results Seventy-two patients were included (age range, 6 months-18 years). The following observations were made: group A: myopathic electromyography or pathognomonic of muscle disease and biopsy or genetically confirmed myopathy (32 cases); group B: myopathic electromyography but biopsy normal or nondiagnostic (12 cases); group C: normal electromyography but biopsy or genetically confirmed myopathy (three cases, all with metabolic myopathy); and group D: electromyography normal and biopsy normal or nondiagnostic (25 cases). The most common diagnoses were congenital myopathy (seven cases), metabolic myopathy (six cases), muscular dystrophy (six cases), genetically confirmed myopathy (five cases), myopathy, undefined (five cases), and inflammatory myopathy (four cases). Conclusions Pediatric electromyography was 91% sensitive and 67% specific in myopathic disorders. The metabolic myopathies were commonly missed by electromyography. [ABSTRACT FROM AUTHOR]

Rhabdomyolysis accounts for ∼10% of acute kidney injuries. In glycerol-induced myoglobinuric acute kidney injury, we found an increase in the nuclear factor erythroid 2-related factor 2 (Nrf2) nuclear protein, a key redox-sensitive transcription factor, and Nrf2-regulated genes and proteins including upregulation of heme oxygenase-1. In in vitro studies, pretreatment of LLC-PK1 cells with an activator of Nrf2 before myoglobin exposure significantly decreased oxidant generation and cytotoxicity, whereas Nrf2 inhibition and gene silencing exacerbated the injury. Chlormethiazole, a specific CYP2E1 transcription inhibitor, prevented an increase in catalytic iron in the kidneys, decreased oxidative stress, blocked nuclear translocation of the Nrf2 protein, decreased heme oxygenase-1 upregulation, and provided functional and histological protection against acute kidney injury. CYP2E1 inhibitors and gene silencing in renal tubular epithelial cells significantly decreased reactive oxygen species generation and provided marked protection against myoglobin-induced cytotoxicity. Thus, during CYP2E1-induced oxidative stress, the transcription factor Nrf2 has a pivotal role in the early adaptive response. Inhibition of CYP2E1 coupled with the prior induction of Nrf2 may be a valuable tool to reduce CYP2E1-mediated rhabdomyolysis-induced acute kidney injury. [ABSTRACT FROM AUTHOR]

Isolated metabolic myopathies encompass a heterogeneous group of disorders, with mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy production manifesting either by recurrent episodes of myoglobinuria or progressive muscle weakness. In this study, we investigated the genetic cause of a patient from a consanguineous family who presented with adolescent onset autosomal recessive mitochondrial myopathy. Analysis of enzyme activities of the five respiratory chain complexes in our patients' skeletal muscle showed severely impaired activities of iron sulfur (Fe-S)-dependent complexes I, II and III and mitochondrial aconitase. We employed exome sequencing combined with homozygosity mapping to identify a homozygous mutation, c.1A>T, in the FDX1L gene, which encodes the mitochondrial ferredoxin 2 (Fdx2) protein. The mutation disrupts the ATG initiation translation site resulting in severe reduction of Fdx2 content in the patient muscle and fibroblasts mitochondria. Fdx2 is the second component of the Fe-S cluster biogenesis machinery, the first being IscU that is associated with isolated mitochondrial myopathy. We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III. [ABSTRACT FROM AUTHOR]

McArdle disease is also referred as glycogen storage disease type V is a myopathy caused by an inherited deficiency of myophosphorylase, an enzyme responsible for the breakdown of glycogen and it is a disease of childhood or adolescence. The disease is most common muscle glycogenosis in which patients experience reversible exercise intolerance, acute crises (fatigue and contractures), myoglobinuria and rhabdomyolysis due to static muscle contractions like weightlifting or dynamic exercise like climbing stairs or running. This review emphasizes on the main features of McArdle disease including etiology, epidemiology, sign and symptoms, pathophysiology, diagnostic parameters and management with pharmacological treatments and nutritional supplement for improving exercise performance and quality of life in McArdle disease. [ABSTRACT FROM AUTHOR]

The aim of this study was to determine the effectiveness of a 7-day oral supplementation with branched-chain amino acids (BCAA) to prevent muscle damage during a marathon. Forty-six experienced runners were randomly divided into two groups, one with BCAA supplementation ( n = 25, supplemented with 5 g day of powdered 1:0.5:0.5 leucine:isoleucine:valine, during the 7 days prior to the competition) and the other as a control group ( n = 21, supplemented with an isocaloric placebo). Before the marathon race and within 3 min of finishing, leg muscle power was measured with a maximal countermovement jump and a urine sample was obtained. During the race, running pace was measured by means of a time-chip. Myoglobin concentration was determined in the urine samples as an indirect marker of muscle damage. A visual analog scale (0-10 points) was used to assess leg muscle pain during the race. In the BCAA group, the mean running pace during the marathon was similar to the control group (3.3 ± 0.4 vs. 3.3 ± 0.5 m s, respectively, 0.98). The pre- to post-race reduction in muscle power was similar in both BCAA and control groups (−23.0 ± 16.1 vs. −17.3 ± 13.8 %, P = 0.13). Post-race urine myoglobin concentration was similar in both BCAA and control groups (5.4 ± 7.5 vs. 4.5 ± 8.6 μg mL, P = 0.70). Finally, there were no differences between groups in the perceived muscle pain during the race (6 ± 1 vs. 5 ± 1 points, P = 0.80). A 7-day supplementation of BCAA (5 g day) did not increase the running performance during a marathon. Furthermore, BCAA supplementation was ineffective to prevent muscle power loss, muscle damage or perceived muscle pain during a marathon race. [ABSTRACT FROM AUTHOR]

We present acute phosphate nephropathy in a 28-year-old man, which was developed after a car accident due to rhabdomyolysis. Treatment of acute kidney injury was done with administration of sodium bicarbonate. [ABSTRACT FROM AUTHOR]

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Abstract: The biochemical consequences of the disease causing mutations of muscle carnitine palmitoyltransferase II (CPT II) deficiency are still enigmatic. Therefore, CPT II was characterized in muscle biopsies of nine patients with genetically proven muscle CPT II deficiency. Total CPT activity (CPT I+CPT II) of patients was not significantly different from that of controls. Remaining activities upon inhibition by malonyl-CoA and Triton X-100 were significantly reduced in patients. Immunohistochemically CPT II protein was predominantly expressed in type-I-fibers with the same intensity in patients as in controls. Western blot showed the same CPT II staining intensity ratio in patients and controls. CPT I and CPT II protein concentrations estimated by ELISA were not significantly different in patients and in controls. Citrate synthase activity in patients was significantly increased. Total CPT activity significantly correlated with both CPT I and CPT II protein concentrations in patients and controls. This implies (i) that normal total CPT activity in patients with muscle CPT II deficiency is not due to compensatory increase of CPT I activity and that (ii) the mutant CPT II is enzymatically active. The data further support the notion that in muscle CPT II deficiency enzyme activity and protein content are not reduced, but rather abnormally inhibited when fatty acid metabolism is stressed. [Copyright &y& Elsevier]

Propofol, is a potent short-acting intravenous sedative-hypnotic agent used for induction and maintainance of general anesthesia and to provide continuous sedation in the intensive care unit. Propofol-related infusion syndrome (PRIS) is a rare yet often fatal syndrome associated with the continuous infusion of propofol. It is characterized by severe metabolic acidosis, cardiac failure, bradycardia, myoglobinuria and renal failure. Hereby we present a case of PRIS which developed in a geriatric patient (74y), following coronary artery by-pass grafting and aortic valve replacement surgery in the early postoperative period. Propofol was used in low doses both intra-operatively and in the intensive care unit (ICU) postoperatively. The patient developed severe lactic acidosis, oliguria and bradycardia requiring cardiac pacing in the 6th hour postoperatively. Lactic acidosis and clinical condition improved promptly within a few hours, following the discontinuation of propofol infusion. [ABSTRACT FROM AUTHOR]

Abstract: Clinical, biochemical and molecular genetic data in a cohort of 50 patients with muscle CPT II deficiency are reported. Attacks of myoglobinuria occurred in 86% of patients. In 94% of patients the triggering factor was exercise. Although the myopathic form is often called the adult from, in 60% of patients, the age of onset was in childhood (1–12years). All the patients in whom biochemical activity was measured had normal enzyme activity of total CPT I+II but the activity was significantly inhibited by malonyl-CoA and Triton. The p.S113L mutation was detected in 38/40 index patients (95%) in at least one allele. Sixty percent of index patients were homozygous for this mutation. Thirteen other mutations, all in compound heterozygote form, were also identified. There was no significant difference in ages of onset, clinical and biochemical phenotype of patients with p.S113L mutation in homozygous or compound heterozygous form. The exception was a tendency of slightly higher residual enzyme activity upon malonyl-CoA inhibition in compound heterozygotes. Phenotype was also not significantly different in patients with missense mutations on both alleles and patients with truncating mutation on one allele and missense mutation on the other allele. However, the only exception was that, attacks were triggered by fasting in almost all the patients with truncating mutations. In contrast, fasting triggered the attacks only in one third of patients with missense mutations on both alleles. The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype. [Copyright &y& Elsevier]

Myoglobinuria is a frequent complication of metabolic myopathies and may also occur in Duchenne and Becker dystrophies but is not a typical sign of limb-girdle muscular dystrophy. We describe an unusual presentation of alpha-sarcoglycanopathy with myoglobinuria at the onset of the disease. The boy presented an episode of dark urine, identified as presence of blood by a urine dipstick, occurred 10 days after an episode of fever and sore throat treated with antibiotics. He was admitted to the hospital and investigated for post-infectious nephritis, but further analysis revealed the presence of myoglobinuria. Immunohistochemistry on muscle tissue revealed absent expression of α-sarcoglycan confirmed by detection of a homozygous mutation in the alpha-sarcoglycan gene. Myoglobinuria has been previously reported four times in sarcoglycanopathies but only once in alpha-sarcoglycanopathy. Conclusion The present observation reinforces the idea that the myoglobinuria should be considered a manifestation of a primary sarcoglycanopathy even as the only recognizable sign at the debut of the disease. [ABSTRACT FROM AUTHOR]

Abstract: Sea snakes are highly venomous and inhabit tropical waters of the Indian and Pacific Oceans. Enhydrina schistosa is a common species of sea snake that lives in the coastal waters, lagoons, river mouths and estuaries from the Persian Gulf through Sri Lanka and to Southeast Asia. It is considered one of the most aggressive sea snakes in Sri Lanka where fishermen and people wading are at high risk. However, sea snake bites are rarely reported. In this report, we describe three cases where E. schistosa was the offending species. These three patients presented to two hospitals on the west coast of Sri Lanka within the course of 14 months from November 2011 with different degrees of severity of envenoming. The first patient was a 26-year-old fisherman who developed severe myalgia with very high creatine kinase (CK) levels lasting longer than 7 days. The second patient was a 32-year-old fisherman who developed gross myoglobinuria, high CK levels and hyperkalaemia. Both patients recovered and their electromyographic recordings showed myopathic features. The nerve conduction and neuromuscular transmission studies were normal in both patients suggesting primary myotoxic envenoming. The third patient was a 41-year-old man who trod on a sea snake in a river mouth and developed severe myalgia seven hours later. He had severe rhabdomyolysis and died three days later due to cardiovascular collapse. In conclusion, we confirm that E. schistosa is a deadly sea snake and its bite causes severe rhabdomyolysis. [Copyright &y& Elsevier]

Rhabdomiolisis is a syndrome characterized by muscle cell destruction and release of the intracellular content, and mainly myoglobin, into the blood. An acute kidney injury is common and due to the nephrotoxic action of the hem group of myoglobin. We present a young man with a life threatening illness, associated with an extreme elevation of muscle enzymes, potentially fatal electrolyte disorders and oliguric acute renal failure as a result of a vigorous exertion at 3.800 meters above sea level and review the literature about this interesting clinical condition. [ABSTRACT FROM AUTHOR]