G.P.7 01 Whole-body muscular MRI in early-onset muscle diseases

Merosin-deficient or LAMA2-related congenital muscular dystrophy (CMD) belongs to a group of muscle diseases with an overlapping diagnostic spectrum. MRI plays an important role in the diagnosis and disease-tracking of muscle diseases. Whole-body MRI is ideal for describing patterns of muscle involvement. Our purpose is to analyze the pattern of muscle involvement in merosin-deficient CMD children employing whole-body muscle MRI. Ten children with merosin-deficient CMD underwent whole-body muscle MRI. We used a control group of other hereditary muscle diseases, which included 13 children. Overall, 37 muscles were graded for fatty infiltration using Mercuri scale modified by Fischer et al 2008. The results showed a fairly consistent pattern of muscle fatty infiltration in index group, which differed from that in control group. There was a highly statistically significant difference between the two groups in regard to the fatty infiltration of the neck, serratus anterior, rotator cuff, deltoid, forearm, gluteus maximus, gluteus medius, gastrocnemius and soleus muscles. Additionally, results showed relative sparing of the brachialis, biceps brachii, gracilis, sartorius, semitendinosus and extensor muscles of the ankle in index group. There is evidence to suggest that whole-body muscle MRI can become a useful contributor to the differential diagnosis of merosin deficient CMD.

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Response to Early-onset Pamidronate Treatment in Chronic Nonbacterial Osteomyelitis: A Retrospective Single-center Study

The Journal of Rheumatology ◽

10.3899/jrheum.181254 ◽

2019 ◽

Vol 46 (11) ◽

pp. 1515-1523 ◽

Cited By ~ 4

Author(s):

Caroline Marie Andreasen ◽

Anne Grethe Jurik ◽

Mia B. Glerup ◽

Christian Høst ◽

Birgitte T. Mahler ◽

...

Keyword(s):

Disease Activity ◽

Early Onset ◽

Clinical Disease ◽

Inactive Disease ◽

Whole Body ◽

Clinical Relapse ◽

Single Center ◽

Antiinflammatory Drugs ◽

Clinical Disease Activity ◽

Chronic Nonbacterial Osteomyelitis

Objectives.Chronic nonbacterial osteomyelitis (CNO) is a sterile inflammatory bone disorder with an unpredictable disease course. The objective was to assess clinical and radiological disease activity in children with CNO including response to early-onset pamidronate treatment.Methods.A single-center retrospective study was conducted of children fulfilling the Bristol Criteria for CNO. At the time of diagnosis, whole-body magnetic resonance imaging (WB-MRI) or local MRI was performed to assess radiological disease activity. Children with multifocal or spinal bone inflammation and clinical disease activity not responding to nonsteroidal antiinflammatory drugs were categorized as having extended CNO. Clinical disease activity was assessed annually.Results.Fifty-one children were included. Median followup time was 4 years (interquartile range 3–7). Children categorized with extended CNO (n = 32) were treated in an early-onset 2-year pamidronate regimen. In extended CNO, WB-MRI was performed at time of diagnosis, and at years 1 and 2 in 88%, 84%, and 91% of cases, respectively. During the first year, the total number of radiologically active lesions and number of spinal lesions per patient declined (p = 0.01). Clinically inactive disease was recorded in 12/32 children (38%). However, 8/12 children (67%) experienced clinical relapse. In limited CNO (n = 19), 10/19 children (53%) presented with clinically inactive disease after 1 year and did not experience clinical relapse.Conclusion.Pamidronate might contribute to improvement in clinical and radiological disease activity in extended CNO, especially after 1 year of treatment. However, children with continuously active disease after 2 years of pamidronate treatment were seen.

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Quantitative Imaging in Muscle Diseases with Focus on Non-proton MRI and Other Advanced MRI Techniques

Seminars in Musculoskeletal Radiology ◽

10.1055/s-0040-1712955 ◽

2020 ◽

Vol 24 (04) ◽

pp. 402-412

Author(s):

Marc-André Weber ◽

Armin M. Nagel ◽

Hermien E. Kan ◽

Mike P. Wattjes

Keyword(s):

Magnetic Resonance ◽

Diffusion Tensor ◽

T2 Mapping ◽

Quantitative Mri ◽

Whole Body ◽

Resonance Spectroscopy ◽

Whole Body Imaging ◽

Muscle Involvement ◽

Muscle Diseases ◽

Proton Mri

AbstractThe role of neuromuscular imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI), especially whole-body applications, is increasingly being used for the diagnosis and monitoring of disease progression. In addition, they are considered as a powerful outcome measure in clinical trials. Because many muscle diseases have a distinct muscle involvement pattern, whole-body imaging can be of diagnostic value by identifying this pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis. In addition, more advanced MRI applications including non-proton MRI, diffusion tensor imaging, perfusion MRI, T2 mapping, and magnetic resonance spectroscopy provide deeper insights into muscle pathophysiology beyond the mere detection of fatty degeneration and/or muscle edema. In this review article, we present and discuss recent data on these quantitative MRI techniques in muscle diseases, with a particular focus on non-proton imaging techniques.

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P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

Neuromuscular Disorders ◽

10.1016/j.nmd.2011.06.1091 ◽

2011 ◽

Vol 21 (9-10) ◽

pp. 742-743

Author(s):

D. Avila-Smirnow ◽

S. Quijano-Roy ◽

V. Allamand ◽

G. Bonne ◽

V. Biancalana ◽

...

Keyword(s):

Pattern Recognition ◽

Early Onset ◽

Neuromuscular Disorders ◽

Whole Body ◽

Whole Body Mri ◽

Mri Protocol

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Whole body CT, motion capture, and 3D computer animation findings in three working dogs with early onset lower back pain

Journal of Veterinary Behavior ◽

10.1016/j.jveb.2011.12.005 ◽

2012 ◽

Vol 7 (1) ◽

pp. 56

Author(s):

J.C. Jones ◽

J.C. Tan ◽

T.J. Tucker ◽

B.J. Pierce ◽

J.L. Foxworth ◽

...

Keyword(s):

Back Pain ◽

Motion Capture ◽

Lower Back Pain ◽

Computer Animation ◽

Early Onset ◽

Whole Body ◽

Whole Body Ct ◽

Lower Back ◽

Working Dogs ◽

Body Ct

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Congenital Haemolytic Anaemia with early onset and uncommon presentation: A Case Report

Community Based Medical Journal ◽

10.3329/cbmj.v6i2.54729 ◽

2017 ◽

Vol 6 (2) ◽

pp. 32-37

Author(s):

Fazilatunnesa ◽

Anjuman Ara ◽

Mohammad Asadujjaman ◽

Shahanaz Jahan ◽

Muhammad Masud Hasan ◽

...

Keyword(s):

Case Report ◽

Haemolytic Anaemia ◽

Peripheral Blood ◽

Early Onset ◽

Blood Film ◽

Whole Body ◽

Red Cell ◽

Uncommon Presentation ◽

Peripheral Blood Film ◽

Yellow Coloration

Haemolytic anaemias result from an increase in the rate of red cell destruction. The lifespan of the normal red cell is 100-120 days; in the haemolytic anaemias it is shortened by varying degrees, and in very severe cases may be only a few days. Here we described a male child of 1.5 months presented with yellow coloration of whole body and sclera since birth, progressive pallor since birth & gradual abdominal distention for 20 days. The child was admitted to hospital with the complaints of bleeding from mouth and nose for 3 days. Peripheral blood film of the child showed features of hemolytic anaemia, as a congenital hemolytic anaemia probably hemoglobinopathies/thalassemia. As because the child is 1.5 months old the diagnosis was confirmed by Hb-electrophoresis of his parents. Hb-electrophoresis examination of the parent showed predominant Hb was HbE which was 90.0% found in mother & 92.4% found in father. So the case was diagnosed as congenital hemolytic anaemia, HbE disease. CBMJ 2017 July: Vol. 06 No. 02 P: 32-37

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