title: Mitochondrial Myopathy in Follow-up of a Patient With Chronic Fatigue Syndrome.
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.
authors.affiliation: University of Seville, Seville, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Galán
authors.affiliation: Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas-Junta de Andalucía, Seville, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: de Lavera
authors.affiliation: Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas-Junta de Andalucía, Seville, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Cotán
authors.affiliation: Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas-Junta de Andalucía, Seville, Spain.
authors.forename: José A
authors.initials: JA
authors.lastname: Sánchez-Alcázar
keywords: chronic fatigue syndrome; mitochondrial myopathy; myalgic encephalomyelitis; occipital neuralgia; riboflavin therapy