Incidental severe fatty degeneration of the erector spinae in a patient with L5-S1 disc extrusion diagnosed with limb-girdle muscular dystrophy R2 dysferin-relatedopen access
- Authors
- Kim, D.H.; Jang, D.-H.; Jang, J.-H.
- Issue Date
- Aug-2020
- Publisher
- MDPI AG
- Keywords
- Axial myopathy; Dysferlinopathy; Limb-girdle muscular dystrophy; Lumbar disc
- Citation
- Diagnostics, v.10, no.8
- Journal Title
- Diagnostics
- Volume
- 10
- Number
- 8
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/63356
- DOI
- 10.3390/diagnostics10080530
- ISSN
- 2075-4418
2075-4418
- Abstract
- Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness. A 35-year-old male presented with right leg pain for 2 weeks without a previous history of limb weakness. Magnetic resonance imaging of the lumbar spine showed disc extrusion at L5-S1 and incidental severe fatty degeneration of the lumbar erector spinae. Physical examination demonstrated no definite limb weakness. Serum creatine kinase levels were elevated. Genetic testing using a targeted gene-sequencing panel identified compound heterozygous variants NM_003494.3(DYSF) c.[1284+2T>C]; [5303G>A]. Computed tomography revealed fatty degeneration of lower-limb muscles, which was mild in the adductor muscles and severe in the gluteus minimus. Immunohistochemistry staining of the vastus lateralis showed under-expression of dysferlin. This patient was diagnosed with LGMD R2 dysferin-related. Thus, unusual fatty degeneration of the lumbar paraspinalis can be a manifestation of dysferlinopathy. © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
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