Medical Express

ISSN (print): 2318-8111

ISSN (online): 2358-0429

Author's Articles

2 result(s) for: Pablo Arturo Olivo Pallo

McArdle’s disease: an underestimated or underdiagnosed myopathy in rheumatologic practice? Cases series and literature review

Pablo Arturo Olivo Pallo; André Macedo Serafim da Silva; Edmar Zanoteli; Samuel Shinjo


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OBJECTIVE: McArdle’s disease is a metabolic myopathy that manifests with varied clinical conditions and is often confounded with other diagnoses. Herein, the authors report a case series and carry out a literature review.
METHODS: A cross-sectional single-center study evaluating 12 patients with McArdle’s disease was conducted.
RESULTS: Mean age at onset of symptoms was 28.0±17.4 years, while age at disease diagnosis was 39.0±14.8 years. History of intolerance to physical exercises was observed in 10 cases; muscle weakness in 9, second wind phenomenon in only 1 case. The presence of cramps, fatigue and myalgia was observed in 12, 11 and 9 of the cases respectively. Median creatine phosphokinase level was 5951U/L. Most of the patients (83.3%) were initially diagnosed with another condition (polymyositis, inclusion body myositis, fibromyalgia and/or muscular dystrophy), and approximately half had received glucocorticoids and/or immunosuppressants prior to definitive diagnosis. All patients underwent muscular biopsy, which revealed the presence of subsarcolemmal vacuoles characterized by glycogen deposits, and negative histochemical reaction for the myophosphorylase enzyme.
CONCLUSION: The present study reinforces the presence of clinical variability among patients and shows that McArdle’s disease should be considered one of the differential diagnoses of inflammatory myopathies and other rheumatic diseases.

Keywords: Fibromyalgia; glycogen storage disease; myopathies; myophosphorylase; myositis.

Spontaneous pneumomediastinum in dermatomyositis: a case series and literature review

Pablo Arturo Olivo Pallo; Samuel Katsuyuki Shinjo


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OBJECTIVES: To describe a case series of spontaneous pneumomediastinum in dermatomyositis and to review the literature.
METHODS: This was a retrospective single-center case series, reporting 9 patients with pneumomediastinum and defined dermatomyositis, followed from 2005 to 2017.
RESULTS: Median age of patients: 33 years; cutaneous and pulmonary involvement in all cases; constitutional symptoms in 88.8% of patients; involvement of the joints in 11.1%, gastrointestinal tract in 44.4%, and muscles in 77.7%; subcutaneous emphysema was observed in 55.5% and pneumothorax in 11.1%, respectively. Muscle weakness was observed in 77.7% of cases and with a median level of serum creatine phosphokinase of 124U/L. Drawing on results for our literature review, the overall analysis showed that the risk factors associated with spontaneous pneumomediastinum were: (a) a history of interstitial pneumopathy; (b) normal or low levels of muscle enzymes; (c) previous use of systemic glucocorticoid; (d) over 50% of patients had subcutaneous emphysema; (e) high mortality as a consequence of severity of the interstitial lung disease.
CONCLUSIONS: Our case series revealed that pneumomediastinum is a rare complication in dermatomyositis that occurs in patients with a history of interstitial pneumopathy and may be accompanied by subcutaneous emphysema and pneumothorax.

Keywords: Dermatomyositis; myositis; pneumomediastinum; pneumopathy.