Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
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Esteller Diana, Schiava Marianela, Verdú-Díaz José, Villar-Quiles Rocío-Nur, Dibowski Boris, Venturelli Nadia, Laforet Pascal, Alonso-Pérez Jorge, Olive Montse, Domínguez-González Cristina, Paradas Carmen, Vélez Beatriz, Kostera-Pruszczyk Anna, Kierdaszuk Biruta, Rodolico Carmelo, Claeys Kristl, Pál Endre, Malfatti Edoardo, Souvannanorath Sarah, Alonso-Jiménez Alicia, de Ridder Willem, De Smet Eline, Papadimas George, Papadopoulos Constantinos, Xirou Sofia, Luo Sushan, Muelas Nuria, Vilchez Juan J, Ramos-Fransi Alba, Monforte Mauro, Tasca Giorgio, Udd Bjarne, Palmio Johanna, Sri Srtuhi, Krause Sabine, Schoser Benedikt, Fernández-Torrón Roberto, López de Munain Adolfo, Pegoraro Elena, Farrugia Maria Elena, Vorgerd Mathias, Manousakis Georgious, Chanson Jean Baptiste, Nadaj-Pakleza Aleksandra, Cetin Hakan, Badrising Umesh, Warman-Chardon Jodi, Bevilacqua Jorge, Earle Nicholas, Campero Mario, Díaz Jorge, Ikenaga Chiseko, Lloyd Thomas E, Nishino Ichizo, Nishimori Yukako, Saito Yoshihiko, Oya Yasushi, Takahashi Yoshiaki, Nishikawa Atsuko, Sasaki Ryo, Marini-Bettolo Chiara, Guglieri Michela, Straub Volker, Stojkovic Tanya, Carlier Robert Y, Díaz-Manera Jordi
Аннотация
METHODS: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences. We identified a series of potential diagnostic MRI based characteristics useful for the diagnosis of VCP disease and validated them in 1089 MRIs from patients with other genetically confirmed NMDs.
RESULTS: Fat replacement of at least one muscle was identified in all symptomatic patients. The most common finding was the existence of patchy areas of fat replacement. Although there was a wide variability of muscles affected, we observed a common pattern characterized by the involvement of periscapular, paraspinal, gluteal and quadriceps muscles. STIR signal was enhanced in 67% of the patients, either in the muscle itself or in the surrounding fascia. We identified 10 diagnostic characteristics based on the pattern identified that allowed us to distinguish VCP disease from other neuromuscular diseases with high accuracy.
CONCLUSIONS: Patients with mutations in the VCP gene had common features on muscle MRI that are helpful for diagnosis purposes, including the presence of patchy fat replacement and a prominent involvement of the periscapular, paraspinal, abdominal and thigh muscles.