We report the case of a 19-year-old woman who had been suffering from general fatigue and exercise intolerance since 15 years old. At 18 years old, she experienced muscle weakness and myalgia of the calves. Six months later, she was admitted to our hospital. She showed muscle weakness of the neck and proximal limbs, and myalgia of the calves was prominent. Serum levels of creatine kinase (CK) and lactic acid were elevated, as was the level of lactic acid in cerebrospinal fluid. T2-weighted and short-inversion-time inversion recovery (STIR) imaging of the lower limbs showed hyperintensity on bilateral gastrocnemius muscles, and the region revealed Gd enhancement. Based on histopathological findings from muscle and identification of a m.3271T>C point mutation, mitochondrial myopathy was diagnosed. Rest and administration of vitamins B1 and B2, coenzyme Q10, and L-carnitine improved serum CK levels; however, exercise intolerance, myalgia, and lactic acidemia remained. Sodium pyruvate was then administered, and lactic acid levels, exercise intolerance, and findings on magnetic resonance imaging improved. Sodium pyruvate could prove effective in addressing both elevated serum lactic acid levels and exercise intolerance in mitochondrial disease.

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-000652DOI Listing

Publication Analysis

Top Keywords

exercise intolerance
20
lactic acid
16
sodium pyruvate
12
muscle weakness
12
levels exercise
12
mitochondrial myopathy
8
myalgia calves
8
serum levels
8
acid levels
8
exercise
5

Similar Publications

We aimed to describe the cardiopulmonary function during exercise and the health-related quality of life (HRQoL) in patients with a history of COVID-19 pneumonia, stratified by chest computed tomography (CT) findings at baseline. Among 77 consecutive patients with COVID-19 who were discharged from the Pulmonology Ward between March 2020 and April 2021, 28 (mean age 54.3 ± 8.

View Article and Find Full Text PDF

Chronic coughing is a common complaint in small animal medicine and it has an extensive differential diagnosis with very different treatment and prognosis. Coughing is considered chronic when it lasts at least 8 weeks. This retrospective study aimed to describe the most common causes of chronic coughing in a population of dogs that presented to a referral hospital in England between January 2012 and December 2021.

View Article and Find Full Text PDF

Background: Post-COVID-19 syndrome affects 10-60% of SARS-CoV-2 survivors. While conventional treatments show limited efficacy, emerging evidence suggests the potential benefits of balneotherapy in managing persistent symptoms. We aimed to systematically evaluate the efficacy and safety of balneotherapy and thermal treatment interventions in treating post-COVID-19 syndrome.

View Article and Find Full Text PDF

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Mol Genet Metab

January 2025

Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain; Mitochondrial and Neuromuscular Research Group '12 de Octubre', Hospital Research Institute (imas12), Madrid 28041, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

Background And Objectives: Mitochondrial diseases are caused by defects in oxidative phosphorylation, with primary mitochondrial myopathies (PMM) being a subset where muscle involvement is predominant. PMM presents symptoms ranging from exercise intolerance to progressive muscle weakness, often involving ocular muscles, leading to ptosis and progressive external ophthalmoplegia (PEO). PMM can be due to variants in mitochondrial or nuclear DNA.

View Article and Find Full Text PDF

A 3-year-old spayed male mixed-breed Labrador presented to the Emergency and Critical Care Unit with lethargy, loss of appetite, vomiting, a recent history of presyncopal episodes, and severe exercise intolerance. On admission, the patient had bradycardia, low blood pressure, and mild abdominal pain. Serum biochemistry information revealed severe hyperkalemia, hyponatremia, hypoglycemia, and mildly increased liver and kidney parameters.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!