Keywords:
Neoplasia, Genetic defects, Congenital, Education, Diagnostic procedure, Decision analysis, Ultrasound, MR, CT, Neuroradiology peripheral nerve, Musculoskeletal system, Musculoskeletal soft tissue
Authors:
F. Rossi1, G. Murialdo2, A. Schenone3, M. Grandis2, D. Ferone2, A. Tagliafico3; 1IT, 2Genoa/IT, 3Genova/IT
DOI:
10.1594/essr2018/P-0019
Results
The first part of the research selected the rare diseases that could be diagnosed with an imaging approach.
The pathologies involving the Musculoskeletal system were selected and for each one a subdivision into categories was done.
Table 1
Role of medical imaging in the diagnosis of rare diseases involving the Musculoskeletal system.
N=101/621 (16%) rare diseases can be diagnosed for the first time with medical imaging.
N= 36/101 (36%) rare diseases involve the Musculoskeletal system,
including also Peripheral nervous system (n=8/36,
22%).
Musculoskeletal rare conditions according to age of Patients and Etiopathology
Musculoskeletal rare conditions were subdivided according to the age of the involved population: n= 14/36 (39%) are pediatric diseases,
n= 10/36 (28%) are of adulthood,
n=12/36 (33%) affects all ages.
From the etiopathological point of view,
the causes are different,
the majority are thought to be genetic (n=14/36,
39%) and multifactorial (n=11/36,
30,5%),
often the exact cause of many rare diseases is still unknown (n=11/36,
30,5%).
Table 2
Musculoskeletal rare conditions according to the imaging technique.
N= 23/36 (64%) of the selected rare diseases could be diagnosed with MRI,
n= 19/36 (53%) with CT,
n=23/36 (64%) with X-ray exams,
n= 9/36 (25%) performing a US examination,
n= 1/36 (3%) with PET.Table 3