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

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

doi:10.1186/1824-7288-38-64

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

Ital J Pediatr. 2012 Oct 31:38:64. doi: 10.1186/1824-7288-38-64.

Authors

Giulia Paolella¹, Pasquale Pisano, Raffaele Albano, Lucio Cannaviello, Carolina Mauro, Gabriella Esposito, Pietro Vajro

Affiliation

¹ School of Medicine, University of Salerno, Salerno, Italy.

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.

Publication types

Case Reports

MeSH terms

Child, Preschool
Diagnosis, Differential
Fatty Liver / diagnosis*
Fatty Liver / enzymology
Fructose Intolerance / diagnosis*
Fructose Intolerance / enzymology
Humans
Male
Muscular Dystrophy, Duchenne / diagnosis*
Muscular Dystrophy, Duchenne / enzymology
Transaminases / blood*

Substances

Transaminases