Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes
Corresponding Author
Anna Pichiecchio MD
Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, 2 - 27100 Pavia, Italy
Correspondence to: A. Pichiecchio; e-mail [email protected]Search for more papers by this authorMarta Rossi MD
Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
Search for more papers by this authorClaudia Cinnante MD
Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
Search for more papers by this authorGiovanna Stefania Colafati MD
Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorRoberto De Icco MD
Neurology Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
Search for more papers by this authorRossella Parini MD
Unit of Rare Metabolic Diseases, San Gerardo Hospital, Monza, Italy
Search for more papers by this authorFrancesca Menni MD
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy
Search for more papers by this authorFrancesca Furlan MD
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy
Search for more papers by this authorAlberto Burlina MD
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy
Search for more papers by this authorMichele Sacchini MD
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy
Search for more papers by this authorMaria Alice Donati MD
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy
Search for more papers by this authorSimona Fecarotta PhD, MD
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy
Search for more papers by this authorRoberto Della Casa MD
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy
Search for more papers by this authorFederica Deodato MD
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorRoberta Taurisano MD
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorMaja Di Rocco MD
Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy
Search for more papers by this authorCorresponding Author
Anna Pichiecchio MD
Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, 2 - 27100 Pavia, Italy
Correspondence to: A. Pichiecchio; e-mail [email protected]Search for more papers by this authorMarta Rossi MD
Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
Search for more papers by this authorClaudia Cinnante MD
Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
Search for more papers by this authorGiovanna Stefania Colafati MD
Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorRoberto De Icco MD
Neurology Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
Search for more papers by this authorRossella Parini MD
Unit of Rare Metabolic Diseases, San Gerardo Hospital, Monza, Italy
Search for more papers by this authorFrancesca Menni MD
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy
Search for more papers by this authorFrancesca Furlan MD
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy
Search for more papers by this authorAlberto Burlina MD
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy
Search for more papers by this authorMichele Sacchini MD
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy
Search for more papers by this authorMaria Alice Donati MD
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy
Search for more papers by this authorSimona Fecarotta PhD, MD
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy
Search for more papers by this authorRoberto Della Casa MD
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy
Search for more papers by this authorFederica Deodato MD
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorRoberta Taurisano MD
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy
Search for more papers by this authorMaja Di Rocco MD
Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy
Search for more papers by this authorFunding: Dr. Pichiecchio received a speaker fee from Genzyme. Dr. Parini received travel and research grants and honoraria for speaking engagements from Shire, Genzyme, BioMarin, and SOBI. Dr. Fecarotta received travel support for meeting attendance from Actelion Pharmaceuticals Ltd and Genzyme, a Sanofi Company.
Conflicts of Interest: None of the other authors have anything to disclose.
ABSTRACT
Introduction
The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic infantile-onset Pompe disease who were treated with enzyme replacement therapy.
Methods
We performed and qualitatively scored T1-weighted (T1-w) sequences of the facial, shoulder girdle, paravertebral, and lower limb muscles and short-tau inversion recovery (STIR) sequences of the lower limbs using the Mercuri and Morrow scales, respectively.
Results
On T1-w images, mild (grade 1) or moderate (grade 2) involvement was found in the tongue in 6 of 6 patients and in the adductor magnus muscle in 6 of 9. STIR hyperintensity was detected in all areas examined and was categorized as limited to mild in 5 of 8 patients.
Conclusions
On T1-w sequences, mild/moderate adipose substitution in the adductor magnus and tongue muscles was documented. STIR edema-like alterations of thigh and calf muscles are novel findings. Correlations with biopsy findings and clinical parameters are needed to fully understand these findings. Muscle Nerve 55: 841–848, 2017
Supporting Information
Additional supporting information may be found in the online version of this article
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