Sabrina Ravaglia
Quantitative muscle MRI in individual thigh muscles in early Pompe disease
Autori
- MICHELE GIOVANNI CROCE (DEPARTMENT OF BRAIN AND BEHAVIOURAL SCIENCES, UNIVERSITY OF PAVIA, PAVIA, ITALY – NEUROLOGIA )
- LEONARDO BARZAGHI (ADVANCED IMAGING AND ARTIFICIAL INTELLIGENCE CENTER, NEURORADIOLOGY DEPARTMENT, IRCCS MONDINO FOUNDATION, PAVIA, ITALY – MATEMATICA )
- MATTEO PAOLETTI (ADVANCED IMAGING AND ARTIFICIAL INTELLIGENCE CENTER, NEURORADIOLOGY DEPARTMENT, IRCCS MONDINO FOUNDATION, PAVIA, ITALY – RADIOLOGIA )
- CHIARA BONIZZONI (ADVANCED IMAGING AND ARTIFICIAL INTELLIGENCE CENTER, NEURORADIOLOGY DEPARTMENT, IRCCS MONDINO FOUNDATION, PAVIA, ITALY – RADIOLOGIA )
- NIELS BERGSLAND (DEPARTMENT OF NEUROLOGY, JACOBS SCHOOL OF MEDICINE AND BIOMEDICAL SCIENCES, IRCCS, FONDAZIONE DON CARLO GNOCCHI ONLUS, MILAN, ITALY – NEUROLOGIA )
- XENI DELIGIANNI (DEPARTMENT OF RADIOLOGY, UNIVERSITY HOSPITAL BASEL, BASEL, SWITZERLAND – RADIOLOGIA )
- FRANCESCO SANTINI (DEPARTMENT OF RADIOLOGY, UNIVERSITY HOSPITAL BASEL, BASEL, SWITZERLAND – RADIOLOGIA )
- MASSIMILIANO FILOSTO (NEMO BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA – NEUROLOGIA )
- BARBARA RISI (NEMO BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA – NEUROLOGIA )
- LORIS POLI (UNIT OF NEUROLOGY, ASST SPEDALI CIVILI, BRESCIA – NEUROLOGIA )
- TIZIANA MONGINI (NEUROMUSCULAR CENTER, AOU CITTÀ DELLA SALUTE E DELLA SCIENZA, UNIVERSITY OF TURIN, TURIN, ITALY. – NEUROLOGIA )
- LILIANA VERCELLI (DEPARTMENT OF NEUROSCIENCE “”RITA LEVI MONTALCINI””; HOSPITAL CITTÀ DELLA SALUTE E DELLA SCIENZA, UNIVERSITY OF TURIN , TURIN , ITALY. – NEUROLOGIA)
- LORENZO MAGGI (NEUROIMMUNOLOGY AND NEUROMUSCULAR DISEASES UNIT, FONDAZIONE IRCCS ISTITUTO NEUROLOGICO “”CARLO BESTA””, 20133 MILAN, ITALY – NEUROLOGIA)
- SERENA GASPERINI (DEPARTMENT OF PEDIATRICS, UNIVERSITÀ DEGLI STUDI MILANO-BICOCCA, FONDAZIONE MBBM, SAN GERARDO HOSPITAL, VIA PERGOLESI 33, 20900 MONZA, ITALY – PEDIATRIA )
- MONICA SCIACCO (IRCCS FONDAZIONE CA’ GRANDA OSPEDALE MAGGIORE POLICLINICO, NEUROMUSCULAR AND RARE DISEASE UNIT, MILAN, ITALY – NEUROLOGIA )
- ANNALISA SECHI (REGIONAL COORDINATOR CENTER FOR RARE DISEASES, ACADEMIC HOSPITAL OF UDINE, P.ZZALE SM DELLA MISERICORDIA 15, 33100, UDINE, ITALY – PEDIATRIA )
- MARINA GRANDIS (IRCCS OSPEDALE POLICLINICO SAN MARTINO, GENOA, ITALY – NEUROLOGIA )
- MICHELE SACCHINI (UNIT OF HEREDITARY METABOLIC AND MUSCULAR DISORDERS, MEYER CHILDREN’S UNIVERSITY HOSPITAL, FIRENZE, ITALY – PEDIATRIA )
- SABRINA RAVAGLIA (IRCCS C. MONDINO FOUNDATION, PAVIA, ITALY – NEUROLOGIA )
- ANNA PICHIECCHIO (DEPARTMENT OF BRAIN AND BEHAVIORAL SCIENCES, UNIVERSITY OF PAVIA, PAVIA, ITALY – RADIOLOGIA)
Presentatore
MICHELE GIOVANNI CROCE
Modalità
Oral Communication
Abstract
“Background The availability of biomarkers for detecting early muscle changes and for monitoring progression is an important topic in Pompe disease (PD), and would be potentially useful for other myopathies.
Methods Thanks to the collaborations with other Centres, we could collect 31 patients with PD, including 19 pre-symptomatic patients (Walton score 0) and two patients with early signs (Walton score ≤2). MRI scans of the thigh muscles was performed on a 3T-MRI, assessing T2 and STIR sequences. Fat fraction (FF) was also calculated, by selecting three slices of the 6-point Dixon images from proximal/medial/distal thigh levels, and was automatically segmented into twelve regions of interest, then computed using the Fatty Riot algorithm. Clinical assessment included manual muscle testing, percentage 6MWT, functional scales (r-PACT, QMFM).
Results. Clinical scores correlated with average FF values. To compare the patients within each functional group, Z-scores for FF were calculated by averaging the scores for each muscle, for each patient. While most thigh muscles of asymptomatic patients had normal FF (range 2-6%), thigh adductors showed the higher Z-score critical values. These latter usually correlated with detection of muscle oedema on STIR sequences, as well as with some subset of functional tests. Additional peculiar findings were identified.
Conclusion. Our study suggests the value of quantitative MRI as a promising sensitive, objective, and non-invasive biomarker for detecting early muscle degeneration in PD. A further step will be the evaluation and comparison of these results with more advanced imaging techniques, i.e. magnetization transfer imaging.”