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

Anna Pichiecchio, Marta Rossi, Claudia Cinnante, Giovanna Stefania Colafati, Roberto De Icco, Rossella Parini, Francesca Menni, Francesca Furlan, Alberto B. Burlina, Michele Sacchini, Maria Alice Donati, Simona Fecarotta, Roberto Della Casa, Federica Deodato, Roberta Taurisano, Maja Di Rocco

Research output: Contribution to journalArticlepeer-review


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, 2016.

Original languageEnglish
JournalMuscle and Nerve
Publication statusE-pub ahead of print - Sept 26 2016


  • Journal Article


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