Imaging in Muscular Dystrophy

Transcription

1 Imaging in Muscular Dystrophy Poster No.: C-2339 Congress: ECR 2013 Type: Scientific Exhibit Authors: J. R. Nair, A. S. Gupte, S. Jaggi, H. PANDEY, N Gokulchandran, S. H. SHAH, I. Talwar ; Montreal, Qc/CA, 2 3 Mumbai/IN, MUMBAI, MAHARASHTRA/IN Keywords: Genetic defects, Diagnostic procedure, MR, Musculoskeletal system DOI: /ecr2013/C-2339 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 19

2 Purpose 1) To retrospectively characterize the different types of muscular dystrophy based on the pattern of muscle involvement and further formulate a flow-chart to aid in differential diagnosis. 2) To try and develop parameters to know progression of the disease process and response to treatment Methods and Materials Institutional Review Board and Research Committee approval was obtained. Informed written consent of all patients were obtained prior to the examination. Magnetic Resonance Imaging of 120 biopsy and genetically proven cases of different types of muscular dystrophy were performed on a 1.5 Tesla magnet. Axial and Coronal T1 and T2 images were obtained of both lower and upper limb using either 8-Channel send-receive body coil or brain coil centered over the region of interest. The obtained images were in retrospect reviewed by 2 experienced radiologists, blindfolded to the type of muscular dystrophy. Diffusion Tensor imaging was performed in 6 non-collinear directions of diffusion sensitization using echo-planar imaging, b value of 500ms/mm², FOV 40x40cm; matrix, 128x160; slice thickness/gap, 7mm/0mm, NEX, 2; ASSET, 2; Acquisition time, 4 minutes. Each single-shot slice position matched traverse TSE T2, using same parameters for post-processing anatomic definition of the muscles were obtained. Post processing was done on Functool software to obtain Functional Anisotropy (FA) and Apparent Deficient Co-efficient (ADC) maps. Results SUMMATION OF THE IMAGING FEATURES 1) DUCHENNE MUSCULAR DYSTROPHY (DMD) (FIG 1) Page 2 of 19

3 Gastrocnemius affected earlier and severely with relative sparing of Sartorius, Gracilis, Semitendinosis and Semimembranosus. 2) LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD) Autosomal dominant (LGMD1) and Autosomal-recessive (LGMD2) are the two forms of LMGD, Autosomal-recessive forms being more common. The two most frequent forms are LGMD2A (due to mutation in the calpain-3 gene) and LGMD2I ( due to mutation in the FKRP [Fukutin -related protein] gene) LGMD2A: (FIG 2) Striking and early involvement of the posterior thigh muscle. Gluteus maximus in the pelvis, semimembranosus, biceps femoris and adductor muscles in the thigh and sartorius and gracilis in the calf. Sparing of the vastus lateralis in the thigh and selectively involvement of the medial head of gastrocnemius and soleus in the lower leg muscles are characteristic imaging features. LGMD2I: (FIG 3) Marked changes in the adductor, posterior thigh and calf muscles. Gluteus maximus in the pelvis, adductor magnus and biceps femoris in the thigh and diffuse involvement of the posterior leg muscles with hypertrophy of the tibilais anterior muscle. 3) FACIO-SCAPULO-HUMERAL MUSCULAR DYSTROPHY (FSHD) (FIG 4) Semimembranosus most affected in the thigh, followed by biceps femoris, semitendinosis and adductor group of muscles. Marked asymmetry and involvement of the medial gastrocnemius, soleus and tibialis anterior in the thigh. 4) MYOTONIC DYSTROPHY (FIG 5) Predominant affliction of the anterior compartment of the thigh with relative sparing of rectus femoris and semi-lunar peri-femoral area of fatty infiltration of the vastus muscle. In lower leg, gastrocnemius show early and frequent involvement while posterior tibial muscles are relatively unaffected. 5) ULLRICH-CMD-COLLAGEN 6 (FIG 6) Page 3 of 19

4 Diffuse involvement of all posterior and lateral muscles of the thigh with selective sparing of sartorius, gracilis,adductor longus and rectus femoris. Typical appearance: Increased signal at the periphery of the muscles with relative preservation of the internal part of the muscle, obvious in the vastus and rectus femoris muscles resulting in internal shadow in the rectus. Rim of degenerative changes between the soleus and gastrocnemius. IMAGING ALGORITHM FOR DIFFERENTIAL DIAGNOSIS OF TYPES AND SUBTYPES OF MUSCULAR DYSTROPHY (FIG 7) DIFFUSION TENSOR IMAGING: IN NORMAL SUBJECTS THIGH: (FIG 9) ADC values of quadriceps femoris higher than hamstrings;probably due to greater hydration of quadriceps. FA values of hamstrings higher than quadriceps femoris, due to complex muscle architecture of the Quadriceps femoris CALF:(FIG 10) FA values of soleus, lower than rest of the muscles of calf due to bipennate complex structure of the anterior part of soleus IN PATIENTS WITH MUSCULAR DYSTROPHY Comparison of muscles with fatty and without fatty infiltration revealed lower ADC(p=0.001)and higher FA ( p=0.002) values in muscles with fatty infiltration, the difference was statistically significant for both parameters, by independent samples t-test Images for this section: Page 4 of 19

5 Fig. 1: Duchenne Muscular Dystrophy Page 5 of 19

6 Fig. 2: LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD2A) Page 6 of 19

7 Fig. 3: LIMB GIRDLE MUSCULAR DYSTROPHY (LGMD2I) Page 7 of 19

8 Fig. 4: FACIO-SCAPULO-HUMERAL MUSCULAR DYSTROPHY (FSHD) Page 8 of 19

9 Fig. 5: MYOTONIC DYSTROPHY Page 9 of 19

10 Fig. 6: ULLRICH-CMD-COLLAGEN 6 Page 10 of 19

11 Fig. 7: IMAGING ALGORITHM FOR DIFFERENTIAL DIAGNOSIS OF TYPES AND SUBTYPES OF MUSCULAR DYSTROPHY Page 11 of 19

12 Fig. 8: DIFFUSION TENSOR IMAGING OF NORMAL MUSCLES Page 12 of 19

13 Fig. 9: FA AND ADC VALUES OF NORMAL MUSCLES IN THE THIGH Page 13 of 19

14 Fig. 10: FA AND ADC VALUES OF NORMAL MUSCLES IN THE CALF Page 14 of 19

15 Fig. 11: DTI IN DMD Page 15 of 19

16 Fig. 13: DTI IN FSHD Page 16 of 19

17 Fig. 12: DTI IN MYOTONIC DYSTROPHY Page 17 of 19

18 Conclusion MRI can definitely aid in diagnosing types and subtypes of muscular dystrophies, based on the pattern and location of muscle involvement. Diffusion tensor imaging of the muscle appears to be promising tool in determining progression of the disease process and response to treatment References 1)Mike P. Wattjes, Rudolf A. Kley, and Dirk Fischer.Neuromuscular imaging in inherited muscle diseases. Eur Radiol October; 20(10): )Mercuri E, Pichiecchio A, Allsop J, et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging Feb;25(2): )Fleckenstein JL. MRI of neuromuscular disease: the basics. Semin Musculoskelet Radiol. 2000;4(4): )Tonon C, Gramegna LL, Lodi R. Magnetic resonance imaging and spectroscopy in the evaluation of neuromuscular disorders and fatigue. Neuromuscul Disord Dec;22 Suppl 3:S )Sinha S, Sinha U, Edgerton VR. In vivo diffusion tensor imaging of the human calf muscle. J Magn Reson Imaging Jul;24(1): )Zaraiskaya T, Kumbhare D, Noseworthy MD. Diffusion tensor imaging in evaluation of human skeletal muscle injury. J Magn Reson Imaging Aug;24(2): ) Saupe N, White LM, Stainsby J, Tomlinson G, et.al. Diffusion tensor imaging and fiber tractography of skeletal muscle: optimization of B value for imaging at 1.5 T. AJR Am J Roentgenol Jun;192(6):W Personal Information Page 18 of 19

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