Muscular dystrophy

Case contributed by Dr Ali Abougazia

Presentation

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.

Patient Data

Age: 11
Gender: Female
MRI

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.

Case Discussion

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.

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Case information

rID: 21513
Case created: 28th Jan 2013
Last edited: 4th Dec 2015
Inclusion in quiz mode: Included

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