Anna Pichiecchio1, Marta Rossi2, Claudia Cinnante3, Giovanna Stefania Colafati4, Roberto De Icco5, Rossella Parini6, Francesca Menni7, Francesca Furlan8, Alberto Burlina8, Michele Sacchini9, Maria Alice Donati9, Simona Fecarotta10, Roberto Della Casa10, Federica Deodato11, Roberta Taurisano11, Maja Di Rocco12. 1. Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, 2 - 27100, Pavia, Italy. 2. Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. 3. Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. 4. Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy. 5. Neurology Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. 6. Unit of Rare Metabolic Diseases, San Gerardo Hospital, Monza, Italy. 7. Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. 8. Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy. 9. Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy. 10. Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. 11. Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy. 12. Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
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.
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.
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