A 45-year-old man presented to the hospital with exertional dyspnea and myalgias.
He was promptly referred to Internal Medicine for laboratory abnormalities—most strikingly,
a lactic acid of 22 mmol/L. He reported several weeks of dyspnea, myalgias, acute
on chronic abdominal pain, weight loss, and general malaise. Aside from blindness
from congenital cataracts, he had no past medical history, nor known family history.
Despite the metabolic derangements, he appeared well and hemodynamically stable. He
had no clinical evidence of ischemia nor sepsis. His examination was significant only
for widespread pain with muscle palpation and mild proximal hip weakness.
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References
- Lactic acidosis.N Engl J Med. 2014; 371: 2309-2319
- Mitochondrial diseases.Nature Rev Dis Primer. 2016; 2: 16080
- Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med. 2015; 17: 689-701
Article info
Publication history
Published online: March 26, 2018
Footnotes
Funding: No funding was obtained specifically for this article.
Conflicts of Interest: The authors have no actual or potential conflicts of interest to declare.
Authorship: All authors cared for the patient. EAC performed the literature search and wrote the manuscript. All authors revised it critically for important intellectual content. The patient provided written informed consent for the publication of this manuscript.
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Copyright
© 2018 Elsevier Inc. All rights reserved.
