Open Access Case report

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

Giulia Paolella1, Pasquale Pisano2, Raffaele Albano2, Lucio Cannaviello3, Carolina Mauro2, Gabriella Esposito4 and Pietro Vajro1,2,5*

Author Affiliations

1 Chair of Pediatrics, School of Medicine, University of Salerno, Salerno, Italy

2 Pediatrics, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, Salerno, Italy

3 Physical and Rehabilitative Medicine, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, Salerno, Italy

4 Department of Biochemistry and Medical Biotechnologies, University of Naples Federico II, Naples, Italy

5 Chair of Pediatrics, School of Medicine, University of Salerno, Via S. Allende, 84080 Baronissi, Salerno, Italy

For all author emails, please log on.

Italian Journal of Pediatrics 2012, 38:64 doi:10.1186/1824-7288-38-64

Published: 31 October 2012

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.

Keywords:
Hypertransaminasemia; Fatty liver; Hereditary fructose intolerance; Muscular dystrophies