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Caso contributivo

Fegato grosso e grasso: poche diagnosi a cui pensare

Martina Mainetti, Massimo Grassi, Andrea Zucchini, Lorenzo Mambelli¹, Fabio Dal Monte², Denise Cassandrini³, Giuseppe Maggiore⁴, Federico Marchetti

U.O.C di Pediatria e Neonatologia, Azienda Ospedaliera di Ravenna
¹Scuola di Specializzazione in Pediatria, Università di Ferrara
²Pediatria di Famiglia, Faenza
³U.O. di Medicina Molecolare, Azienda Ospedaliera Stella Maris di Pisa
⁴UO di Gastroenterologia Pediatrica, Dipartimento di Medicina Clinica e Sperimentale, Università di Pisa, Azienda Ospedaliera Universitaria Pisana

The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson’s disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.

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