Italian Journal of Pediatrics (Oct 2012)

Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

  • Paolella Giulia,
  • Pisano Pasquale,
  • Albano Raffaele,
  • Cannaviello Lucio,
  • Mauro Carolina,
  • Esposito Gabriella,
  • Vajro Pietro

DOI
https://doi.org/10.1186/1824-7288-38-64
Journal volume & issue
Vol. 38, no. 1
p. 64

Abstract

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Abstract We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia.

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