title: Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.
abstract: BACKGROUND
  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.
authors.affiliation: Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France.
authors.forename: Aude
authors.initials: A
authors.lastname: Gesquière-Dando
authors.affiliation: Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France.
authors.forename: Shahram
authors.initials: S
authors.lastname: Attarian
authors.affiliation: Department of Pathology and Neuropathology, Timone University Hospital, Aix-Marseille University, Marseille, France.
authors.forename: André
authors.initials: A
authors.lastname: Maues De Paula
authors.affiliation: Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Pouget
authors.affiliation: Reference Center of Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, Boulevard Jean Moulin, Marseille, Cedex 05, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Salort-Campana
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005356:Fibromyalgia / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis* / Q000188:drug therapy
keywords: Pompe disease; diagnosis; fibromyalgia; gastrointestinal function; glycogenosis type II; pain