Premium
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes
Author(s) -
Pichiecchio Anna,
Rossi Marta,
Cinnante Claudia,
Colafati Giovanna Stefania,
Icco Roberto,
Parini Rossella,
Menni Francesca,
Furlan Francesca,
Burlina Alberto,
Sacchini Michele,
Donati Maria Alice,
Fecarotta Simona,
Casa Roberto Della,
Deodato Federica,
Taurisano Roberta,
Rocco Maja
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25417
Subject(s) - substitution (logic) , edema , medicine , computer science , programming language
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