Neonatal rhabdomyolysis as a presentation of muscular dystrophy

Authors:
  • WGWarren D. Grover
    Warren D. Grover
  • SBStuart Barbera
    Stuart Barbera
  • HMHarold G. Marks
    Harold G. Marks

Abstract
We report a unique presentation of X-linked recessive dystrophy as neonatal rhabdomyolysis. There was induration of the proximal musculature in an otherwise well neonate and striking CK elevation, without myoglobinuria. Muscle biopsy at age 1 year showed dystrophic alterations, and X chromosome analysis showed a deletion within or adjacent to the Duchenne/Becker locus.

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