title: Rigid spine syndrome revealing late-onset Pompe disease.
abstract: The authors describe a 50-year-old man who was evaluated for a rigid spine syndrome with onset at age 15, and subsequent walking difficulties. Cardiac and pulmonary functions were normal. Deltoid biopsy revealed the presence of small vacuoles and increased glycogen with Periodic Acid Schiff staining in a limited number of fibers. Acid alpha-glucosidase staining was decreased in leucocytes, and genetic analysis identified the presence of two mutations in that gene. This observation suggests that Pompe disease should be considered in the differential diagnosis of rigid spine syndrome, even in patients without respiratory involvement or with a muscle biopsy showing only mild histopathological changes.
authors.affiliation: Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. pascal.laforet@psl.aphp.fr
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
authors.forename: Valérie
authors.initials: V
authors.lastname: Doppler
authors.forename: Catherine
authors.initials: C
authors.lastname: Caillaud
authors.forename: Kenza
authors.initials: K
authors.lastname: Laloui
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Ana
authors.initials: A
authors.lastname: Ferreiro
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D001706:Biopsy; D004252:DNA Mutational Analysis; D020233:Gait Disorders, Neurologic / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D006003:Glycogen / Q000032:analysis / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D051346:Mobility Limitation; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000150:complications / Q000201:enzymology* / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D010503:Periodic Acid-Schiff Reaction; D013122:Spinal Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D013131:Spine / Q000473:pathology / Q000503:physiopathology; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics
chemical_list: D006003:Glycogen; D000520:alpha-Glucosidases