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

A. Pichiecchio, M. Rossi, C. Cinnante, G.S. Colafati, R. De Icco, R. Parini, F. Menni, F. Furlan, A. Burlina, M. Sacchini, M.A. Donati, S. Fecarotta, R.D. Casa, F. Deodato, R. Taurisano, M. 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 55: 841–848, 2017. © 2016 Wiley Periodicals, Inc.
Original languageEnglish
Pages (from-to)841-848
Number of pages8
JournalMuscle and Nerve
Issue number6
Publication statusPublished - 2017


  • glycogenosis II
  • infantile-onset Pompe disease
  • muscle MRI
  • Pompe disease
  • STIR
  • T2
  • adductor magnus muscle
  • Article
  • child
  • clinical article
  • clinical assessment
  • clinical evaluation
  • controlled study
  • enzyme replacement
  • female
  • gastrocnemius muscle
  • gluteus muscle
  • glycogen storage disease type 2
  • human
  • leg muscle
  • male
  • muscle disease
  • muscle edema
  • nuclear magnetic resonance imaging
  • nuclear magnetic resonance scanner
  • paraspinal muscle
  • pelvic girdle
  • preschool child
  • priority journal
  • qualitative analysis
  • school child
  • semimembranosus muscle
  • semitendinous muscle
  • shoulder girdle
  • tongue
  • adipose tissue
  • complication
  • diagnostic imaging
  • edema
  • image processing
  • pathology
  • skeletal muscle
  • Adipose Tissue
  • Child
  • Child, Preschool
  • Edema
  • Female
  • Glycogen Storage Disease Type II
  • Humans
  • Image Processing, Computer-Assisted
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal


Dive into the research topics of 'Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes'. Together they form a unique fingerprint.

Cite this