Liver disease

Sindrome di Alpers-Huttenlocher, epilessia, uso del perampanel e medicina narrativa

P. Ricciardelli, A. Zucchini, M.F. Gatto, G. Rametta, F. Marchetti

2017/9

Alpers-Huttenlocher Syndrome (AHS) is a mitochondrial disease that should be suspected in the presence of three clinical cases: refractory epilepsy, liver disease and pro-gressive psychomotor regression. The onset occurs within the first year of age ...

Fegato grosso e grasso: poche diagnosi a cui pensare

M. Mainetti, M. Grassi, A. Zucchini, L. Mambelli, F. Dal Monte, D. Cassandrini, G. Maggiore, F. Marchetti

2012/8 — pag. 533-534

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 ...

Atresia delle vie biliari: quali insidie per il pediatra?

R. Iorio, A.M. Salzano, F. Cirillo, G. Vallone

2009/4 — pag. 224-231

Biliary atresia (BA) is the most common pediatric cause of cirrhosis, end-stage liver disease and indication for liver transplantation. The clinical presentation is characterized by jaundice with yellow or dark urine and pale stools, which eventually...

Colestasi neonatale: la grande simulatrice

M. Tufano, F. Cirillo, G. Ranucci, R. Vecchione, A. Sonzogni, D. Alberti, R. Iorio

2008/8 — pag. 527-529

Early detection and accurate diagnosis of cholestatic jaundice (CJ) are important for successful treatment and favourable prognosis but the rapid and effective recognition of the causes of cholestasis in infants is still challenging also for paed...

Un’ipertransaminasemia urso-dipendente

G. Ranucci, F. Cirillo, L. D’Antiga, M. Tufano, M. D’Ambrosi,G. Giordano, R. Iorio

2008/3 — pag. 193-194

We present a case of a 6 year-old boy with chronic hypertransaminasemia referred to our observation at the age of 17 months, with ALT levels of 2,147 IU/L without signs of cholestasis. Main causes of hypertransaminasemia were excluded and liver b...

Intestino e fegato: uniti nel bene…uniti nel male

G. Torre

2001/10 — pag. 690-692