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.
|Translated title of the contribution||Large and fatty liver: Few diagnoses to think of|
|Number of pages||2|
|Journal||Medico e Bambino|
|Publication status||Published - Oct 2012|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health