Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
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.



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.



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.



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.
Neuroradiology Department, C. Mondino National Neurological Institute, Via Mondino, 2 - 27100, Pavia, Italy.
Anna
A
Pichiecchio
Child Neuropsychiatry Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Marta
M
Rossi
Unit of Neuroradiology, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Claudia
C
Cinnante
Neuroradiology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
Giovanna Stefania
GS
Colafati
Neurology Unit, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Roberto
R
De Icco
Unit of Rare Metabolic Diseases, San Gerardo Hospital, Monza, Italy.
Rossella
R
Parini
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Francesca
F
Menni
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy.
Francesca
F
Furlan
Unit of Metabolic Diseases, Azienda Ospedaliera Universitaria, Padua, Italy.
Alberto
A
Burlina
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy.
Michele
M
Sacchini
Metabolic and Neuromuscular Unit, AOU Meyer Hospital, Florence, Italy.
Maria Alice
MA
Donati
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy.
Simona
S
Fecarotta
Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy.
Roberto Della
RD
Casa
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
Federica
F
Deodato
Unit of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
Roberta
R
Taurisano
Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
Maja
M
Di Rocco
D000273:Adipose Tissue / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004487:Edema / Q000000981:diagnostic imaging* / Q000209:etiology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000473:pathology*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging*
Pompe disease; STIR; T2; glycogenosis II; infantile-onset Pompe disease; muscle MRI