David Tobaly1, Pascal Laforêt2,3, Ariane Perry4, Dalila Habes5, Philippe Labrune6, Valerie Decostre7, Marion Masingue8, Francois Petit9, Andrea Barp10, Luca Bello10, Pierre Carlier11, Robert-Yves Carlier1,3,12. 1. APHP, Service de Radiologie GHU PIFO pôle neuro-locomoteur, Hôpital Raymond Poincaré, Garches, France. 2. AP-HP, Service de Neurologie, Hôpital Raymond-Poincaré, Garches, France. 3. Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France. 4. Université Paris-Diderot-Sorbonne Paris Cité, UMR 1149, Paris, France. 5. AP-HP, Service de pédiatrie, Hôpital Bicêtre, Kremlin-Bicêtre, France. 6. APHP, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Hôpitaux Universitaires Paris Sud, Clamart, France. 7. AIM-Institute of Myology, Paris, France. 8. Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, Hôpital Pitié-Salpêtrière, APHP, Paris, France. 9. APHP, Laboratoire de Génétique Moléculaire, Hôpitaux Universitaires Paris-Sud, Hôpital Antoine Béclère, Clamart, France. 10. Department of Neurosciences, University of Padova, Padova, Italy. 11. AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France. 12. UMR 1179, Université Versailles Saint Quentin en Yvelines, Paris Saclay, France.
Abstract
INTRODUCTION: The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII). METHODS: Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Muscle changes consisted of internal bright signals of fatty replacement. RESULTS: Distribution across muscles showed predominant signal alteration in the lower limbs and postural muscles. This finding is consistent with the overall clinical presentation of GSDIII and the results of heatmap scores. Review of the MRI scans provided new information regarding recurrent muscle changes, particularly in the soleus, gastrocnemius medial head, and thoracic extensor muscles. DISCUSSION: Whole-body muscle imaging provides clinically relevant information regarding muscle involvement in GSDIII. A severity score may contribute to improved patient management. Muscle Nerve, 2019.
INTRODUCTION: The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII). METHODS: Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Muscle changes consisted of internal bright signals of fatty replacement. RESULTS: Distribution across muscles showed predominant signal alteration in the lower limbs and postural muscles. This finding is consistent with the overall clinical presentation of GSDIII and the results of heatmap scores. Review of the MRI scans provided new information regarding recurrent muscle changes, particularly in the soleus, gastrocnemius medial head, and thoracic extensor muscles. DISCUSSION: Whole-body muscle imaging provides clinically relevant information regarding muscle involvement in GSDIII. A severity score may contribute to improved patient management. Muscle Nerve, 2019.