Révélation d’une maladie de Mc Ardle par une intolérance musculaire à l’effort associée à une rhabdomyolyse sévère

Amézyane, T.; Kharras, A. El; Abouzahir, A.; Fatihi, J.; Bassou, D.; Mahassin, F.; Ghafir, D.; Ohayon, V.

doi:10.1016/j.ando.2009.08.005

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…Muscle magnetic resonance imaging in metabolic myopathies or pseudometabolic myopathies has been well documented in Pompe disease [ 9 ]. Only a few reports of exercise intolerance and recurrent rhabdomyolysis have been published [ 6 , 10 , 11 ]. In 2015, lower limb muscle magnetic resonance imaging findings in a series of 14 patients with long-chain fatty acid oxidation metabolic myopathies were reported [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

et al. 2018

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BackgroundThe myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients.Case presentationTwo Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed.ConclusionsTo the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.

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Section: Discussionmentioning

confidence: 99%

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

et al. 2018

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Neurologic Emergencies in Sports

Williams¹

2014

CONTINUUM: Lifelong Learning in Neurology

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Rhabdomyolysis Episode in an Individual with McArdle’s Disease after Low Aerobic Exercise

Dantas¹,

Oliveira²,

Marcos-Pardo³

et al. 2022

Saudi Journal of Kidney Diseases and Transplantation

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McArdle’s disease, known as blockage of muscle glycogen metabolism, is characterized by glycogen accumulation of chains in skeletal striated muscles. One of the typical symptoms of the disease is the feeling of intolerance to exercise. Severe muscle cram and contracture, which often cause stiffness, occur due to a lack of muscle energy substrate during the exercise. These factors can lead to muscle damage, myoglobinuria, and, in severe cases, renal failure and rhabdomyolysis. Rhabdomyolysis is a syndrome that presents injury and necrosis of muscle cells leading to the release of intracellular material to the circulatory system. The present study aimed to report rhabdomyolysis in an individual with McArdle’s disease after exercise of walking with low intensity. Patient, aged 33 years, was treated in the emergency room of a hospital located in the State of Rio de Janeiro, Brazil. After performing a full lap on the block of home (~500 m in ~4 min 37 s), walking at a moderate speed (~6.5 km/h), the individual felt sick and was rescued, later being hospitalized. The examinations collected presented hematocrit (HCT) compatible with chronic disease anemia and myoglobinuria. The patient was discharged from the intensive care center on the 3rd day, after a 45% drop in creatine kinase. The patient described in the present study achieved full recovery. Attention to symptoms, early diagnosis, and immediate treatment made it possible to interrupt the development of complications caused by rhabdomyolysis, not allowing progression to acute renal failure.

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Révélation d’une maladie de Mc Ardle par une intolérance musculaire à l’effort associée à une rhabdomyolyse sévère

Cited by 3 publications

References 25 publications

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

Neurologic Emergencies in Sports

Rhabdomyolysis Episode in an Individual with McArdle’s Disease after Low Aerobic Exercise

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