Young girl complaining of progressive muscle weakness and inability to learn walking. Creatine kinase is double the normal value. The clinician asked for MRI of the chest to evaluate the thymus gland.
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No thymic abnormality is noted. However, the skeletal muscles of the shoulder girdle, chest wall, spine and proximal upper limbs show increased signal in T1 and T2 sequences with low STIR signal denoting fatty infiltration. No significant loss of muscle girth is noted.
Fatty infiltration of the scanned upper trunk and proximal upper limbs skeletal muscles denotes non-inflammatory muscular dystrophy. The differential diagnosis would span:
- Congenital Muscular Dystrophy
- Spinal Muscular Atrophy.
- Other less likely muscular dystrophies.
Further evaluation by muscle biopsy was recommended to reach a final diagnosis.
- MR Imaging of Primary Skeletal Muscle Diseases in Children, Chan W. & Chung Liu G., AJR October 2002 vol. 179 no. 4 989-997