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

• Published in: Muscle & nerve Vol. 55; no. 6; pp. 841 - 848
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.06.2017
• Subjects: Adipose Tissue - diagnostic imaging; Biopsy; Child; Child, Preschool; Edema; Edema - diagnostic imaging; Edema - etiology; Female; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - pathology; glycogenosis II; Humans; Image Processing, Computer-Assisted; infantile‐onset Pompe disease; Limbs; Magnetic Resonance Imaging; Male; muscle MRI; Muscle, Skeletal - diagnostic imaging; Muscles; Patients; Pompe disease; Quality; STIR; Thigh; Tongue; Pompe disease; muscle MRI; STIR; glycogenosis II; T2; infantile-onset Pompe disease
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.25417

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