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Annals of Medicine and Surgery (2012) Jul 2023COVID-19 is a systemic viral disease complicated with medical conditions. Severe rhabdomyolysis during the COVID-19 course is not until now well known.
UNLABELLED
COVID-19 is a systemic viral disease complicated with medical conditions. Severe rhabdomyolysis during the COVID-19 course is not until now well known.
CASE PRESENTATION
The authors presented a 48-year-old female with fatal rhabdomyolysis caused by COVID-19 infection. She was referred to us with cough, generalized myalgia and arthralgia, and fever during the last week. Laboratory results showed an elevated erythrocyte sedimentation rate, elevated C-reactive protein level, and elevated creatine kinase. The nasopharyngeal swab confirmed the diagnosis of coronavirus 2 RNA infection. She was managed initially in the COVID-19 isolation department. Three days later, she was transferred to the intensive care unit and mechanically ventilated. Laboratory results were consistent with rhabdomyolysis. She died because of cardiac arrest due to continuous hemodynamic deterioration.
CLINICAL DISCUSSION
Rhabdomyolysis is a serious condition that can be fatal or cause disability. Rhabdomyolysis cases have been reported in COVID-19 patients.
CONCLUSION
Rhabdomyolysis cases have been reported in COV19 patients. Further studies are needed to understand the mechanism and to optimize the treatment.
PubMed: 37427198
DOI: 10.1097/MS9.0000000000000881 -
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.Pediatric Research Dec 2023Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it...
BACKGROUND
Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in children. We reviewed the GSDV cases of a tertiary hospital center to assess diagnostic timing/accuracy, as well as potential clinical/analytical predictors of such factors.
METHODS
We retrospectively reviewed all GSDV cases with follow-up in both Pediatric and Adult Metabolic Diseases consultations. We included 28 cases and assessed their hospital record for clinical information.
RESULTS
Over 90% of our cases had late diagnoses, with more than 50% being diagnosed in adulthood despite symptom onset in preschool (very late diagnosis). Diagnostic age was lower in patients exhibiting myoglobinuria. Interestingly, patients with a positive family history of GSDV had similar rates of very late diagnoses, likely since the index case was already detected very late in life. Finally, we observe that the R50* variant is associated with increased myoglobinuria and CK elevation, in a dosage-dependent manner.
CONCLUSION
We concluded that GSDV is severely underdiagnosed, and that some clinical and analytical aspects of the condition can be more indicative of this diagnosis. Furthermore, we propose for the first time a genotype-phenotype correlation in GSDV.
IMPACT
GSDV is a pediatric-onset metabolic disorder that is mostly diagnosed late in the adult age and commonly misdiagnosed. We observed the first genotype-phenotype correlation in GSDV, regarding the common R50* variant. Awareness of GSDV for pediatricians and the overall medical community is vital.
PubMed: 38052860
DOI: 10.1038/s41390-023-02943-1 -
Indian Journal of Nephrology 2023Acute kidney injury can complicate rhabdomyolysis in 10-40% patients. Myoglobinuria and elevated creatine kinase (CK) form the basis of diagnosis. When associated with...
Acute kidney injury can complicate rhabdomyolysis in 10-40% patients. Myoglobinuria and elevated creatine kinase (CK) form the basis of diagnosis. When associated with azotemia and/or oliguria, intermittent hemodialysis is a treatment option. 31-year-old young man came with lower limb pain after doing 800 sit ups. At the presentation, blood pressure was high, serum creatinine was 15.7mg/dl and creatine kinase(CK)>20000 IU/L. Intermittent dialysis was initiated. He developed posterior reversible encephalopathy syndrome, generalized tonic clonic convulsions and a further rise in CK. He underwent extracorporeal removal of myoglobin with medium cut-off (MCO) membrane. After 3 sessions with MCO membrane, myoglobin and CK levels reduced. He was transitioned to conventional dialysis and discharged in a stable condition with complete renal recovery. Medium cut-off membrane effectively removes circulating myoglobin without significant albumin loss and is cost effective.
PubMed: 38174295
DOI: 10.4103/ijn.ijn_151_22 -
Brain Sciences Aug 2023Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the gene. The...
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during adolescence or adulthood. We report on a 17-year-old boy who has presented with exercise-induced muscle pain and fatigue since childhood. In recent clinical history, episodes of exercise-related severe hyperCKemia and myoglobinuria were reported. Electromyography was normal, and a muscle biopsy showed only "moth-eaten" fibers, and a mild increase in lipid storage in muscle fibers. NGS analysis displayed the already known heterozygote c.1769G>A variant and the unreported heterozygote c.523G>C change in both having disease-causing predictions. Plasma acylcarnitine profiles revealed high long-chain acylcarnitine species levels, especially C14:1. Clinical, histopathological, biochemical, and genetic tests supported the diagnosis of VLCAD deficiency. Our report of a novel pathogenic missense variant in expands the allelic heterogeneity of the disease. Since dietary treatment is the only therapy available for treating VLCAD deficiency and it is more useful the earlier it is started, prompt diagnosis is essential in order to minimize muscle damage and slow the disease progression.
PubMed: 37626534
DOI: 10.3390/brainsci13081178 -
Veterinary Clinical Pathology Jun 2024A 3-year-old male neutered domestic shorthair cat presented with lethargy, hyporexia, and pyrexia of unknown origin. Biochemical analysis using a Beckman Coulter AU480...
A 3-year-old male neutered domestic shorthair cat presented with lethargy, hyporexia, and pyrexia of unknown origin. Biochemical analysis using a Beckman Coulter AU480 demonstrated marked increases in creatine kinase and aspartate aminotransferase, indicative of severe muscle injury, with concurrent presumptive myoglobinuria on urinalysis. A marked, non-physiologic increase in measured bicarbonate and resultant negative anion gap was documented; however, calculated bicarbonate obtained via a point-of-care blood gas analyzer was within normal limits. Laboratory error due to interference by lactate dehydrogenase was suspected and supported by the results of subsequent biochemical testing. Artifactual increases in bicarbonate have been documented in cases of rhabdomyolysis in horses, cows, and a bird. However, to the best of the authors' knowledge, this is the first report to demonstrate this spurious change in a cat.
PubMed: 38872478
DOI: 10.1111/vcp.13371 -
Neuromuscular Disorders : NMD Jan 2024Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known...
Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known as KIAA1639 or Obsc-kin). Obscurin is located at the M-band and Z-disks and interacts with titin and myomesin. It plays an important role in the stability and maintenance of the A- and M-bands and the subsarcolemmal organization of the microtubule network. Furthermore, obscurin is involved in Ca2+ regulation and sarcoplasmic reticulum function and is connected to several other muscle proteins. OBSCN gene variants have been reported to be relatively common in inherited cardiomyopathies. Here we reported two young patients with a history of cramps, myalgia, exercise intolerance, rhabdomyolysis, and myoglobinuria without any evidence of concomitant cardiomyopathy in association with novel OBSCN variants (c.24822C>A and c.2653+1G>C). Obscurin-deficient muscle fibers seem to have increased susceptibility to damage triggered by exercise that may lead to rhabdomyolysis. More studies are needed to clarify the diverse clinical phenotypes and the pathophysiology of OBSCN gene variants.
Topics: Humans; Muscle Proteins; Muscle Fibers, Skeletal; Sarcomeres; Sarcoplasmic Reticulum; Rhabdomyolysis; Protein Serine-Threonine Kinases; Rho Guanine Nucleotide Exchange Factors
PubMed: 38159459
DOI: 10.1016/j.nmd.2023.10.013 -
Cureus Oct 2023Carnitine palmitoyltransferase II (CPT II) deficiency is a long-chain fatty acid (LCFA) oxidation disorder. There are three main types classified by symptoms and age of...
Carnitine palmitoyltransferase II (CPT II) deficiency is a long-chain fatty acid (LCFA) oxidation disorder. There are three main types classified by symptoms and age of onset: the neonatal form, the infantile hepatocardiomuscular form, and the adult or myopathic form. The first two are early-onset severe disorders presenting with marked hypoketotic hypoglycemia, cardiomyopathy, and liver dysfunction. The latter is characterized by muscle pain and weakness and stiffness, typically triggered by exercise or febrile illnesses and occasionally associated with myoglobinuria. One of the most common complications is acute kidney injury (AKI) following massive rhabdomyolysis, which is managed with aggressive fluid therapy; crystalloid solutions are preferred. We report an otherwise healthy 38-year-old patient who presented with severe myalgia, cramps, fatigue, low-grade fever, and transient myoglobinuria, after intense physical training. Significant recurrent muscle pain was reported. Family history was unremarkable. Imaging studies showed no abnormalities. Echocardiogram showed a left ventricle ejection fraction (LVEF) of 40%. Acetylcarnitine analysis with tandem mass spectrometry and molecular tests confirmed the diagnosis. Fluid resuscitation was started. Acute kidney injury was diagnosed and managed with plasmapheresis and five sessions of hemodialysis. The patient was discharged upon the improvement of renal function with lifestyle modification recommendations. In otherwise healthy young adults presenting with myalgia and rhabdomyolysis triggered by physical activity or infection, CPT II deficiency should be considered, and genetic testing should be initiated to provide an opportunity for patients to modify their daily lifestyle, preventing future attacks and the development of complications.
PubMed: 37933340
DOI: 10.7759/cureus.46595 -
Nigerian Journal of Clinical Practice Jul 2023McArdle disease is an inherited myopathy that autosomal recessive inheritance and is also known as glycogen storage disease type 5. Myoglobinuria, increase in serum CK...
McArdle disease is an inherited myopathy that autosomal recessive inheritance and is also known as glycogen storage disease type 5. Myoglobinuria, increase in serum CK level and darkening of urine color secondary to myoglobinuria are typical. Patients may have symptoms associated with increased rhabdomyolysis secondary acute renal failure or hyperkalemia after long and strenuous exercise periods. Today, many studies in the literature have shown that transplantation is superior to dialysis in patients with end-stage renal disease. Our case is a 53-year-old male patient with the diagnosis of McArdle syndrome who was going to have a kidney transplant. The patient had essential hypertension and history of HBsAg+. Total intravenous anesthesia technique was chosen as the anesthesia technique because inhaled anesthetic agents may trigger malignant hyperthermia in the patient. We didn't experience any perioperative complications in our patient. In conclusion, renal transplantation performed with total intravenous in a McArdle syndrome patient may be a simple and effective technique.
Topics: Male; Humans; Middle Aged; Kidney Transplantation; Glycogen Storage Disease Type V; Myoglobinuria; Kidney; Anesthesia, General
PubMed: 37635594
DOI: 10.4103/njcp.njcp_895_22 -
Clinical Medicine (London, England) May 2024Statin-induced immune-mediated necrotising myopathy (IMNM) is an inflammatory myopathy that can present as proximal muscle weakness and, in some cases, as dysphagia and...
Statin-induced immune-mediated necrotising myopathy (IMNM) is an inflammatory myopathy that can present as proximal muscle weakness and, in some cases, as dysphagia and respiratory distress. In this report, we present a case of statin-induced IMNM in a 78-year-old male. The patient had significantly high levels of creatinine kinase and myoglobinuria and experienced gradual weakness in the proximal muscles for 1 month after initiating a 20 mg dose of Atorvastatin 10 months before admission. Rapid clinical improvement was observed with the use of high-dose glucocorticoids in conjunction with methotrexate.
Topics: Humans; Male; Aged; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Myositis; Atorvastatin; Methotrexate; Pyrroles; Immunosuppressive Agents; Heptanoic Acids; Necrosis; Glucocorticoids; Muscular Diseases
PubMed: 38710328
DOI: 10.1016/j.clinme.2024.100217 -
The American Journal of Emergency... Feb 2024Caffeine poisoning can cause fatal ventricular arrhythmias. In this report, we describe a case of severe caffeine poisoning with extraordinarily high blood caffeine...
Caffeine poisoning can cause fatal ventricular arrhythmias. In this report, we describe a case of severe caffeine poisoning with extraordinarily high blood caffeine levels. Despite developing refractory ventricular fibrillation, the patient was successfully treated with intermittent hemodialysis (IHD) under circulatory support by venoarterial extracorporeal membrane oxygenation (VA-ECMO). A 22-year-old male was transported to our hospital approximately 2.5 h after ingesting 200 highly caffeinated tablets (200 mg/tablet) (40 g caffeine total) in a suicide attempt. On arrival, the patient vomited frequently with a Glasgow Coma Scale score E3V2M5, heart rate 185 beats/min, and a blood pressure of 97/62 mmHg. Shortly after arrival, the patient developed ventricular fibrillation which was refractory either to three electrical defibrillations or antiarrhythmic drugs, resulting in endotracheal intubation for mechanical ventilation and VA-ECMO. Starting from 2 h after arrival, intermittent hemodialysis (IHD) was performed for 11 h, which markedly improved clinical symptoms and circulatory parameters. Serum caffeine level was 454.9 mg/dL upon arrival at the hospital, but it decreased to 55.5 mg/dL by the end of IHD treatment. Renal replacement therapy (RRT) including intermittent hemodiafiltration, continuous hemodiafiltration, and IHD was continued because of rhabdomyolysis with myoglobinuria and secondary caused acute kidney injury. The patient was weaned off VA-ECMO on hospital day 7, extubated on hospital day 18, weaned from RRT on hospital day 46, and was transferred to another hospital for physical rehabilitation on hospital day 113. IHD under circulatory support by VA-ECMO should be considered in severe caffeine poisoning causing potentially fatal arrhythmias.
Topics: Male; Humans; Young Adult; Adult; Caffeine; Ventricular Fibrillation; Cardiovascular System; Extracorporeal Membrane Oxygenation; Arrhythmias, Cardiac; Renal Dialysis
PubMed: 38129271
DOI: 10.1016/j.ajem.2023.12.014