Received 4 August 2009; received in revised form 3 November 2009; accepted 4 November 2009.
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 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.
aCentre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
bInstitut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
cLaboratoire de Biochimie et Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France
dInstitut Cochin, INSERM, U567, Université Paris Descartes, CNRS (UMR 8104), Paris, France
eInstitut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France
fUF Cardiogénétique et Myogénétique, Service de Biochimie B, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
gINSERM, U787, Institut de Myologie, Paris F-75013, France
hUPMC Université Paris 06, UMR_S582, IFR14, Paris F-75013, France
Corresponding author. Address: Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47-83 boulevard de l’Hôpital, 75651 Paris Cedex 13, France. Tel.: +33 142163776; fax: +33 142163793.
ABSTRACT