Neonatal rhabdomyolysis as a presentation of muscular dystrophy.
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.
Breningstall
G N
GN
Department of Pediatrics, St. Christopher's Hospital for Children, Philadelphia, PA.
Grover
W D
WD
Barbera
S
S
Marks
H G
HG
D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000201:enzymology; D012206:Rhabdomyolysis / Q000150:complications* / Q000201:enzymology
D003402:Creatine Kinase