Carnitine palmitoyl transferase I deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Hypoketotic hypoglycemia; acute episodes leading to convulsions and coma; hepatomegaly; hepatic failure; adult onset myopathy; elevated levels of carnitine and carnitine phosphokinase in blood, and deficiency of carnitine palmitoyl transferase (CPT) I are the major phenotypic expression. CPT I was first described in 1980 by Bougneres et al., in a patient who developed hypoketotic hypoglycemia and morning seizures at eight months of age. They referred to the disorder as deficiency of hepatic carnitine acyl transferase, or palmitoyl transferase, to distinguish it from the deficiency of muscular CPT, in which there is a very different phenotype of muscle pain and rhabdomyolysis, usually observed in adults after exercise. This disorder usually presents in infancy, often in the second six months, with acute hypoketotic hypoglycemia during an episode of fasting brought on by an intercurrent, usually viral illness, or gastroenteritis.
Temperature – Hyperthermia
T.M. Craft, P.M. Upton in Key Topics In Anaesthesia, 2021
The aetiology of hyperthermia falls into two categories: increased heat production or decreased heat loss. Hyperthermia leads to an increased metabolic rate and oxygen consumption which in turn requires an increase in cardiac output and minute ventilation to meet demand. As the oxygen debt worsens a metabolic acidosis develops secondary to lactic acid production. Subsequent sweating and vasodilatation result in a relative hypovolaemic state and worsening of the metabolic derangement if left untreated. Neurological damage, seizures, rhabdomyolysis, acute renal failure, myocardial ischaemia and infarction may all follow. Patients are usually catatonic with extra-pyramidal and autonomic effects including hyperthermia. The aetiology is unknown but appears to be related to antidopinergic activity of the precipitating drug on dopamine receptors in the striatum and the hypothalamus suggesting a possible imbalance between norepinephrine and dopamine. Clinical features include hyperthermia, muscle rigidity and sympathetic over-activity, whilst treatment involves withdrawal of the agent and general supportive and cooling measures.
Influenza
Chris Carter in Critical Care Nursing in Resource Limited Environments, 2019
Influenza causes severe respiratory illnesses, which often require admission to hospital and critical care. Diagnosis of influenza is predominately clinically; however, tracheal secretions can be sent for laboratory testing. Rapid influenza diagnostic tests are available but have a lower sensitivity than other methods and reliability is determined by the conditions in which they are used. The World Health Organization identifies three types of influenza: seasonal, pandemic, and zoonotic or variant. Potential differential diagnosis to influenza includes community acquired pneumonia, hospital acquired pneumonia, severe acute respiratory infection, exacerbation of chronic lung disease, for example asthma or chronic obstructive pulmonary disease, sepsis, encephalopathy, encephalitis, transverse myelitis, meningitis, Guillain-Barre syndrome, myocarditis and rhabdomyolysis. Patients with suspected or confirmed influenza could transmit the pathogen to healthcare workers. Influenza can be a common reason for admission to critical care in seasonal epidemics. Influenza is a respiratory illness with a wide range of signs and symptoms.
Fatal myocarditis and rhabdomyolysis induced by nivolumab during the treatment of type B3 thymoma
Published in Clinical Toxicology, 2018
Qiang Chen, Dang-Sheng Huang, Li-Wei Zhang, Yuan-Qing Li, Hong-Wei Wang, Hong-bin Liu
Immune checkpoint inhibitors including programmed death-1 inhibitors are promising agents for many types of malignancies; however, it is still an off-label choice for type B3 thymoma. We reported for the first time a patient with type B3 thymoma developed fatal myocarditis and rhabdomyolysis after one dose of nivolumab administration. The results from myocardial and muscle biopsies revealed extensive myocyte damage, T-lymphocytic infiltration and strongly expression of PD-L1 which confirmed the nivolumab-related immune-related adverse events (irAEs). The blood tests showed elevated levels of serum AChR-binding antibody and inflammatory cytokines, in addition abnormal lymphocyte subsets were noted. Our report suggested that administration of nivolumab in type B3 thymoma could cause rare but fatal myocarditis and rhabdomyolysis, over-expressed AChR-binding antibody and inflammatory cytokines may be potential biomarkers for irAEs.
Rhabdomyolysis in adolescent athletes: review of cases
Published in The Physician and Sportsmedicine, 2016
Kevin Hummel, Andrew Gregory, Neerav Desai, Alex Diamond
Rhabdomyolysis is a syndrome characterized by muscle pain, weakness and myoglobinuria and ranges in severity from asymptomatic to life threatening with acute kidney failure. While a common condition in adult populations, it is understudied in pediatrics and the majority of adolescent cases are likely exercise-induced, caused by strenuous exercise in athletes. Recently, in our pediatric sports medicine practice, we have seen numerous cases of late adolescent high school athletes who present with severe muscle pain and were found to have elevated creatine kinase levels. The cases review potential contributing factors including characteristics of the workout, use of supplements, caffeine, medication, and metabolic or genetic predisposition. Treatment for exercised-induced rhabdomyolysis rarely requires more than rehydration. Return to play should be progressive, individualized, and include acclimatization and monitoring of hydration status, though guidelines require further review.
Rhabdomyolysis in an unsuspecting patient
Published in Journal of Community Hospital Internal Medicine Perspectives, 2018
Charlie Farmer, Jessica Barnard, Joanne Zhu
Vitex is an herbal supplement marketed towards women to help regulate menstrual cycles, alleviate some symptoms of premenstrual syndrome, and boost fertility. It is non-FDA regulated and can be purchased from many different places including online and in health stores. We report a case of a 36-year old African American female with no past medical history who developed severe bilateral thigh pain and swelling four days after starting Vitex. This occurred only after mild to moderate exercise that was no more intense than the patient’s typical routine, and she stated to be well hydrated that day. After appropriate labs and workup, she was diagnosed with rhabdomyolysis and admitted to the hospital for close observation and IV fluids. This report is designed to raise the concern that Vitex may potentiate muscle damage with exertion during routine exercise.