Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Google Scholar
Right arrow Articles by Laforêt, P.
Right arrow Articles by Eymard, B.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Laforêt, P.
Right arrow Articles by Eymard, B.
Related Collections
Right arrow Other cerebrovascular disease/ Stroke
Right arrow Metabolic disease (inherited)
Right arrow Glycogenoses
Right arrow Muscle disease
NEUROLOGY 2008;70:2063-2066
© 2008 American Academy of Neurology

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

P. Laforêt, MD, P. Petiot, MD, M. Nicolino, MD, PhD, D. Orlikowski, MD, C. Caillaud, MD, PhD, N. Pellegrini, MD, R. Froissart, PhD, T. Petitjean, MD, I. Maire, MD, PhD, H. Chabriat, MD, PhD, L. Hadrane, MD, D. Annane, MD, PhD and B. Eymard, MD, PhD

From Centre de référence de pathologie neuromusculaire Paris-Est (P.L., L.H., B.E.), Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris; Centre de référence de pathologie neuromusculaire Rhône-Alpes (P.P.), Hôpital de la Croix-Rousse, Lyon; Service d’Endocrinologie et Métabolisme (M.N.), Département de Pédiatrie & Inserm U449, Hôpital Debrousse & Université Claude-Bernard, Lyon; Intensive Care Unit and Department of Physiology-Functional Testing (D.O., N.P., D.A.), Garches Institute, and Centre for Technological Innovation, Raymond Poincaré Teaching Hospital, Assistance Publique-Hôpitaux de Paris, Garches; Laboratoire de Biochimie et Génétique Moléculaire (C.C.), Hôpital Cochin; Institut Cochin, INSERM, U567, Paris; Centre de Référence des Maladies Héréditaires du Métabolisme (R.F., I.M.), Centre de Biologie Est, Hospices Civils de Lyon, Bron; Service de réanimation médicale (T.P.), Laboratoire sommeil et respiration, Centre Hospitalier Universitaire du Nord, Hôpital de la Croix Rousse, Lyon; and Service de neurologie (H.C.), Centre de référence des maladies vasculaires rares du système nerveux central et de la rétine, Hôpital Lariboisière, Paris, France.

Address correspondence and reprint requests to Dr. Pascal Laforêt, Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47-83 boulevard de l’Hôpital, 75651 Paris Cedex 13, France pascal.laforet{at}psl.aphp.fr

Background: Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an underrecognized complication of this disease.

Methods: We report cerebral artery involvement in three French patients with late-onset Pompe disease.

Results: The first patient died at age 35 years from complications of a giant fusiform aneurysm of the basilar artery, and her 34-year-old sister showed evidence of dolichoectatic basilar artery on magnetic resonance angiography. A dilative arteriopathy complicated with carotid artery dissection was diagnosed in the third patient, aged 50 years. Two patients are currently being treated with enzyme replacement therapy (alglucosidase alfa), and regular angiographic follow-up showed the absence of progression of vascular abnormalities in one of them.

Conclusion: These observations, combined with previously reported cases, confirm that Pompe disease should be recognized as a predisposing condition to dilative arteriopathy and cerebral aneurysm formation, although the real incidence of these vascular complications remains unknown.

Abbreviations: ERT = enzyme replacement therapy.

Disclosure: The authors report no disclosures.

Received October 9, 2007. Accepted in final form February 22, 2008.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2008 by AAN Enterprises, Inc.