Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
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
Italian Journal of Pediatrics 2012, 38:64 doi:10.1186/1824-7288-38-64Published: 31 October 2012
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.