AI Article Synopsis
- - The study explores the challenges of diagnosing multiple acyl-CoA dehydrogenase deficiency (MADD) and immune-mediated necrotizing myopathy (IMNM), which have similar symptoms.
- - Researchers compared 25 MADD patients and 30 IMNM patients using thigh MRI to assess muscle edema and fatty infiltration, finding that IMNM showed significantly more severe scores for both conditions.
- - The results suggest that specific patterns observed in muscle MRI can help differentiate MADD from IMNM, potentially reducing the reliance on invasive muscle biopsy for diagnosis.
Article Abstract
Background: Clinically, it is difficult to differentiate multiple acyl-CoA dehydrogenase deficiency (MADD) from immune-mediated necrotizing myopathy (IMNM) because they display similar symptoms. This study aimed to determine whether muscle magnetic resonance imaging (MRI) could be used for differential diagnosis between MADD and IMNM.
Methods: The study evaluated 25 MADD patients, confirmed by muscle biopsy and ETFDH gene testing, and 30 IMNM patients, confirmed by muscle biopsy. Muscles were assessed for edema and fatty replacement using thigh MRI (tMRI). Degrees and distribution patterns of fatty infiltration and edema in gluteus maximus and thigh muscles were compared.
Results: Total fatty infiltration and edema scores (median, [Q1, Q3]) were 4.00 (1.00, 15.00) and 0 (0, 4.00) in MADD and 14.50 (8.00, 20.75) and 22.00 (16.75, 32.00) in IMNM, respectively, which were significantly more severe in IMNM than that in MADD (P = 0.000 and P = 0.004, respectively). Edema scores for gluteus maximus, long head of biceps femoris, and semimembranosus were significantly higher in IMNM than in MADD (all P = 0.000). Fatty infiltration scores for anterior and medial compartments were significantly more severe in IMNM than that in MADD (all P = 0.000).
Conclusion: Different patterns of muscle involvement on tMRI can contribute to differential diagnosis between MADD and IMNM when clinical suspicions alone are insufficient, thereby reducing the need for muscle biopsy.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776843 | PMC |
| http://dx.doi.org/10.4103/0366-6999.222323 | DOI Listing |
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