Abstract
Introduction. Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can easily be mistaken. Methods. We report the case of a patient diagnosed with CFS and during follow-up was finally diagnosed with mitochondrial myopathy by histochemical study of muscle biopsy, spectrophotometric analysis of the complexes of the mitochondrial respiratory chain, and genetic studies. Results. The results revealed 3% fiber-ragged blue and a severe deficiency of complexes I and IV and several mtDNA variants. Mother, sisters, and nephews showed similar symptoms, which strongly suggests a possible maternal inheritance. The patient and his family responded to treatment with high doses of riboflavin and thiamine with a remarkable and sustained fatigue and muscle symptoms improvement. Conclusions. This case illustrates that initial symptoms of mitochondrial disease in adults can easily be mistaken with CFS, and in these patients a regular reassessment and monitoring of symptoms is recommended to reconfirm or change the diagnosis.
Highlights
Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can be mistaken
Chronic fatigue syndrome (CFS)— known as myalgic encephalomyelitis (ME)—is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity
Despite the paucity of high-quality scientific evidence these therapies are relatively harmless and may alleviate select clinical symptoms.7(p414). This led us to report the case of a patient who was diagnosed with CFS and during follow-up the final diagnosis was of mitochondrial myopathy
Summary
Symptoms of mitochondrial diseases and chronic fatigue syndrome (CFS) frequently overlap and can be mistaken. Have overlapping, poorly defined phenotype in the presentation, and clinicians must have a high index of suspicion when considering the possibility of mitochondrial disease.[4,5] Symptoms may show wide variability, from relatively nonspecific exercise intolerance or painful muscle cramps caused by exercise to muscle weakness in a predominantly proximal distribution.
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