Nicolas Taisne1, Claude Desnuelle2, Raul Juntas Morales3, Xavier Ferrer Monasterio4, Sabrina Sacconi2, Fanny Duval4, Guilhem Sole4, René Marc Flipo1, Arnaud Lacour5, Patrick Vermersch5, Thierry Cardon1. 1. Rhumatologie, Hôpital Roger Salengro, Université de Lille 2, Centre Hospitalier Régional Universitaire de Lille, Lille, France. 2. Syst'me nerveux périphérique, muscle et SLA, Hopital Pasteur 2, CHU de Nice, Nice, France. 3. Hôpital Gui-de-Chauliac, service de neurologie, clinique du motoneurone, Inserm 1051, 34925, Montpellier, France. 4. Neurologie, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France. 5. Universitaire Lille, CHU Lille, Clinique Neurologique, Centre de référence maladies rares d'origine neuro-musculaire, Lille, France.
Abstract
INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 T>G). CONCLUSION: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.
INTRODUCTION: Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available. METHODS: Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases. RESULTS: The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 T>G). CONCLUSION: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.
Authors: André Lollert; Clemens Stihl; Andreas M Hötker; Eugen Mengel; Jochem König; Katharina Laudemann; Seyfullah Gökce; Christoph Düber; Gundula Staatz Journal: PLoS One Date: 2018-01-09 Impact factor: 3.240