Introduction: Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder which usually presents as a limb-girdle myopathy with early respiratory involvement.
Methods: We report 2 sisters with an uncommon presentation of LOPD characterized by fibromyalgia-like pain associated with irritable bowel syndrome.
Results: In both sisters, clinical examination was normal and had remained stable for 10 years. The serum creatine kinase level was mildly elevated. Several muscle biopsies showed slight nonspecific myopathic abnormalities. A dried blood spot test indicated acid maltase deficiency. The diagnosis of LOPD was confirmed genetically. Both sisters subsequently developed proximal muscle weakness after pregnancy and started enzyme replacement therapy. Under treatment, gastrointestinal symptoms improved, but pain persisted.
Conclusions: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment.
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