Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

2002 ◽  
Vol 33 (1) ◽  
pp. 10-14 ◽  
Author(s):  
E. Mercuri ◽  
S. Counsell ◽  
J. Allsop ◽  
H. Jungbluth ◽  
M. Kinali ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Resonance Imaging ◽  
Muscle Involvement

Choline Kinase Beta–Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging

2016 ◽  
Vol 54 ◽  
pp. 49-54 ◽  
Author(s):  
Christian De Goede ◽  
Teik Oh ◽  
Jacob Joseph ◽  
Francesco Muntoni ◽  
Caroline Sewry ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Choline Kinase ◽  
Resonance Imaging ◽  
Muscle Involvement

scholarly journals FRI0222 MAGNETIC RESONANCE IMAGING OF MUSCLE INVOLVEMENT IN POLYARTERITIS NODOSA

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 694.2-694
Author(s):  
R. D. Vargas Ruíz ◽  
J. A. Gómez Rosero ◽  
C. Muñoz ◽  
D. Jaramillo Arroyave ◽  
L. Hernandez ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Polyarteritis Nodosa ◽  
Medium Size ◽  
Cotton Wool ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Muscle Involvement ◽  
Nodular Pattern ◽  
Calf Pain

Background:muscle involvement is frequently reported in polyarteritis nodosa (PAN), mostly as myalgia, muscle swelling, and gait difficulty due to intramuscular arteries involvement, peripheral neuropathy, or myositis with slightly or no elevation of muscle enzymes. Magnetic resonance imaging (MRI) findings of compromised muscles have been reported in isolated cases, mainly as a limited form of PAN, however, muscular involvement patterns in MRI of patients with PAN have been recently describedObjectives:to describe MRI of legs findings in patients with PAN in a tertiary center from Medellin-Colombia.Methods:it was performed a retrospective cross-sectional descriptive study of 15 adult patients who were clinically assessed as having PAN and who had undergone MRI of legs between January 2011 and December 2019. Characteristics already informed in previous studies, affected structures (muscle, subcutaneous tissue, and bone) and pattern of hyperintensities were described as diffuse pattern (signal alterations affecting the entire area of the involved muscle), patched pattern (areas of hyperintensities alternating areas of normal muscle signal intensity), and fluffy nodular pattern or cotton-wool appearance (round hyperintense lesions with fluffy margins centered on blood vessels).Results:clinical characteristics:myalgia, especially calf pain, was the most frequent muscular complaint; other clinical manifestations were: constitutional symptoms (80%), arthralgias or arthritis (50%), mono/polyneuropathy (33%), subcutaneous nodules (33%), livedo reticularis (20%), lower limbs ulcers (13%), abdominal symptoms (13%), and purpura (7%).MRI findings:bilateral muscular edema was found in all patients (100%), fatty infiltration (20%), edema of the subcutaneous cellular tissue (20%), and muscular atrophy (13%) were also described. A diffuse pattern occurred in 46% (n=7) of patients (figure panel A), a patched pattern (figure panel B) in 46% (n=7), and a fluffy nodular pattern or cotton-wool appearance (figure panel C) in 6% (n=1). The most frequently affected muscular group was gastrocnemius and soleus (67%), followed by anterior tibialis (27%), plantar, long peroneus, first finger flexors, and long flexors only affected in 7%. Bone involvement was found in 53%, being the tibia the most affected, followed by the fibula and the calcaneus. MRI led to guide the site of muscle biopsy to prove histological medium-size vasculitis in half of the patients.Conclusion:in patients with PAN suspicion who have muscular complaints, especially calf pain, MRI arises as an important diagnostic tool, and also as a guide to muscular biopsy to prove vasculitis. The patterns associated with PAN are diffuse, patched or fluffy nodular hyperintensities in gastrocnemius and soleus with or without bone compromise.References:[1]Kang, Y. et al. Muscle involvement in polyarteritis nodosa: Report of eight cases with characteristic contrast enhancement pattern on MRI. Am. J. Roentgenol. 206, 378–384 (2016).[2]Hofman DM, Lems WF, Witkamp TD, Putte VD, Bijlsma JW. Demonstration of calf abnormalities by magnetic resonance imaging in polyarteritis nodosa. Clin Rheumatol 1992; 11:402–404.FigureDisclosure of Interests:None declared

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials

2016 ◽  
Vol 79 (5) ◽  
pp. 854-864 ◽  
Author(s):  
Giorgio Tasca ◽  
Mauro Monforte ◽  
Pierfrancesco Ottaviani ◽  
Marco Pelliccioni ◽  
Roberto Frusciante ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Clinical Trials ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Large Cohort ◽  
Resonance Imaging

scholarly journals Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

Medicina ◽  
2021 ◽  
Vol 57 (11) ◽  
pp. 1267
Author(s):  
Claudia Brogna ◽  
Lara Cristiano ◽  
Tommaso Verdolotti ◽  
Giulia Norcia ◽  
Luana Ficociello ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Resonance Imaging ◽  
Muscle Mri ◽  
Functional Changes ◽  
One Year ◽  
Age Range

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.

scholarly journals Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Kazuki Yoshida ◽  
Masao Miyagawa ◽  
Teruhito Kido ◽  
Kana Ide ◽  
Yoshifumi Sano ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Rare Disorders ◽  
Pulmonary Cysts ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Here we document the eighth known case and describe the magnetic resonance imaging features of the parotid oncocytoma, which mimicked Warthin’s tumor. Radiologists should be aware of the association between these rare disorders.

scholarly journals Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging

2017 ◽  
Vol 47 (12) ◽  
pp. e12843 ◽  
Author(s):  
Sophie Mavrogeni ◽  
Antigoni Papavasiliou ◽  
Katerina Giannakopoulou ◽  
George Markousis-Mavrogenis ◽  
Maria Roser Pons ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cardiovascular Magnetic Resonance ◽  
Duchenne Muscular Dystrophy ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Cardiovascular Magnetic Resonance Imaging ◽  
Resonance Imaging
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