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.
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance / Paolella, G; Pisano, P; Albano, R; Cannaviello, L; Mauro, C; Esposito, Gabriella; Vajro, P.. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 38:October(2012), pp. 64-66. [10.1186/1824-7288-38-64]
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.
ESPOSITO, GABRIELLA;
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.