Rigid spine syndrome revealing late-onset Pompe disease

• Published in: Neuromuscular disorders : NMD Vol. 20; no. 2; pp. 128 - 130
• Main Authors: Laforêt, Pascal, Doppler, Valérie, Caillaud, Catherine, Laloui, Kenza, Claeys, Kristl G., Richard, Pascale, Ferreiro, Ana, Eymard, Bruno
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.02.2010
• Subjects: Age Factors; Age of Onset; alpha-Glucosidases - deficiency; alpha-Glucosidases - genetics; Biopsy; DNA Mutational Analysis; Gait Disorders, Neurologic - enzymology; Gait Disorders, Neurologic - genetics; Gait Disorders, Neurologic - physiopathology; Glycogen - analysis; Glycogen - metabolism; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - enzymology; Glycogen Storage Disease Type II - genetics; Glycogenosis type II; Humans; Leukocytes - enzymology; Male; Middle Aged; Mobility Limitation; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscular Diseases - complications; Muscular Diseases - enzymology; Muscular Diseases - genetics; Mutation - genetics; Neurology; Periodic Acid-Schiff Reaction; Pompe disease; Rigid spine; Spinal Diseases - enzymology; Spinal Diseases - genetics; Spinal Diseases - physiopathology; Spine - pathology; Spine - physiopathology; Pompe disease; Glycogenosis type II; Rigid spine
• ISSN: 0960-8966; 1873-2364; 1873-2364
• DOI: 10.1016/j.nmd.2009.11.006

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 α-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.