Research 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.

Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome by Fernando Galán, AOPT, Isabel de Lavera, PhD, David Cotán, PhD, José A.
Sánchez-Alcázar, AOPT in Journal of Investigative Medicine High Impact Case Reports July-September 2015 vol. 3 no. 3 [Published September 27, 2015]