Liver Diseases

BRIC o PFIC?

Gibellato E, Lauriola RS, D'Antiga L

2025/10 — pag. 257-259 — DOI

A 9-year-old boy of Moldovan origin presented to the Emergency Room with jaundice and pruritus persisting for two months. His medical history revealed recurrent, self-limiting episodes and a recent hospitalization in Moldova for hyperbilirubinemia tr...

Sclerosi epatoportale

Sparaventi C, Zago A, Di Leo G, Barbi E, Bramuzzo M.

2025/7 — pag. 453-455 — DOI

Hepatoportal sclerosis is a rare and underdiagnosed liver condition characterised by histological alterations of the portal venules and hepatic sinusoids, with periportal fibrosis and vascular narrowing. Its diagnosis is histological and requires liv...

Sclerosi epatoportale

Di Stasio F, Amoroso A, Melzi ML.

2022/2 — pag. 124-126 — DOI

Hepatoportal sclerosis (HS) is a syndrome of obscure aetiology that may evolve in noncirrhotic portal hypertension. The paper reports the case of a 3-month-old infant presenting with HS and isolated liver enzymes elevation....

Neonato pretermine con lesione epatica

Buffoni I, Mallamaci M, Buratti S

2021/3 — pag. 75-77 — DOI

Umbilical venous catheterization (UVC) is a common procedure performed in neonatal intensive care units. Inadvertent extravasation of parenteral nutrition (PN) into the liver parenchyma causing a fluid collection defined as TPN-oma is a well-known co...

Attenti al sole e pensa al fegato: due casi pediatrici di protoporfiria eritropoietica

S. Benvenuto, E. Leghissa, G. Gortani, S. Pastore

2020/26 — pag. 149-152 — DOI

The article reports two cases of a rare paediatric disease: erythropoietic protoporphyria (EPP) characterized by burning erythema and variable liver damage. EPP is the most common porphyria in children, caused by mutations in ferrochelatase (FECH) ge...

Un’inaspettata convulsione… epatica

B. Cristiani, M. Di Pietro, G. Tezza, H. Egger

2019/9 — pag. 233-233

È il Turner delle transaminasi

M. Mainetti, L. Mambelli, M. Cozzolino, F. Marchetti

2019/1 — pag. 47-48

Bartonella sine Bartonella

A. Barachino

2019/1 — pag. 13-13

Cos'è la sindrome di Jeune e quando pensarciDescrizione di un caso clinico

B. Vergara, C. Muratori, L. Mambelli, A. Zucchini, R. Iannace, G. Parmeggiani, A. Sensi, F. Marchetti

2018/2 — pag. 119-122

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia characterised by narrow chest, short skull and skeletal abnormalities, which include, among other things, a “trident” appearance of the...

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 ...

Transaminasi che non passano: tutto quello che dobbiamo sapere

S. Nastasio

2016/7 — pag. 459-460

Uno più uno fa sempre due:una storia di bartonellosi viscerale

A. D’Adda, G. Ferrari, M.L. Melzi, G. Bovo, S. Foresti, A. Cavallero, R. Corso, A. Ciervo, F. Mancini, A. Biondi

2016/4 — pag. 255-258

Un caso di ipertransaminasemia più unico che raro

G. Maggiore, G. Rossi, S. Baldini

2015/9

Una colestasi... ricorrente

F. Barbieri

2014/2

Malattia di Wilson: dieci motivi per (ri)parlarne ai pediatri

R. Iorio, G. Ranucci, D. Liccardo, M.G. Puoti, F. Di Dato

2012/8 — pag. 501-507

Wilson disease (WD) is an inherited autosomal recessive disorder of copper metabolism characterized by progressive copper accumulation in the liver and then in other organs, such as the nervous system, eyes and kidneys. In childhood, clinical prese...

Dove va (o vorrebbe andare) l’epatologia pediatrica?

G. Maggiore

2012/8 — pag. 483-485

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

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 ...

L’epatopatia della malattia celiaca: uno spettrodi lesioni con una comune patogenesi?

S. Caprai, G. Maggiore

2010/6 — pag. 383-386

A wide spectrum of liver injuries in children and adults may be related to celiac disease (CD) and in particular: 1) a mild parenchymal damage characterized by absence of clinical sign or symptom of a chronic liver disease and by non-specific histo...

Approccio clinico al bambino con enzimi epatici elevati, “quasi” vent’anni dopo...

G. Maggiore

2010/1 — pag. 21-32

Isolated alteration of liver enzyme particularly in an apparently healthy child can be a diagnostic challenge for the clinician. In this review the Authors provide a guide to alteration of liver enzyme activity based on four main clinical-biochemic...

L’esplorazione bioumorale del fegato: il bilancio epatico

G. Maggiore

2009/10 — pag. 649-653

Liver function tests are a simple way to explore liver function and are a helpful tool to the clinician to confirm the clinical suspect of liver disease. Practically, evaluation of liver function includes determination of total and conjugated bilir...

I meriti degli altri

E. Barbi

2009/3

Una doppia colestasi in famiglia

G. Paloni, C. Zanchi, D. Giglia, F. Mastrobuoni

2008/7

Dermatologia neonatale

S. Nobile, P. Osimani, A. Zoppi, F.M. de Benedictis

2008/2 — pag. 117-118

Un caso di ipertransaminasemia

M. Lazzerini

2003/8

Un caso di istiocitosi con interessamento cutaneo ed edema

2003/8 — pag. 535

A case of histiocytosis with skin involvement, multifocal disease including visceral involvement....

Il trapianto di intestino è di destra o di sinistra?

S. Amarri

2002/8 — pag. 509-512

Intestinal transplantation (IT) is an alternative to lifelong total parenteral nutrition (TPN) for cases of severe intestinal insufficiency with the following characteristics: venous access impossible, TPN-dependent liver disease, recurrent sepsis,...

Il trapianto epatico in età pediatrica: il punto attuale di un Centro italiano

G. Torre, M. Spada, S. Riva, et al.

2002/5 — pag. 302-310

The Authors report their experience on liver transplantation in children at the Pediatric Liver Transplantation Program, Ospedali Riuniti of Bergamo. Over a five year period 156 transplantations have been performed in 141 children (15 children requ...

Intestino e fegato: uniti nel bene…uniti nel male

G. Torre

2001/10 — pag. 690-692

Variabilità clinica nella sindrome di Schwachman: esperienza dl registro italiano

L. Giglio, P. Petaros, A. Amici, M. Stefanelli; C. Barbera, L. Bruschi, C. Catassi, G. Cavaleri, N. Cimadamore, M. Cipolli, C. D'Orazio, E. Di Bona, P. Failla, L. Filippi, P. Fusco, T. Gentile, R. Ghilar, G. Guariso, S. Varotto, V. Luci, A. Marchi, M. Masi, A. Miano, LD. Notarangelo, R. Padoan, V. Poggi, G. Menna, V. Raia, P. Roggero, P. Sacchini, A. Spataro, D. Stramare, G. Taccetti, C. Ughi, S. Valerioti, G. Mastella

2001/8

Variabilità clinica nella sindrome di Schwachman: esperienza del Registro Italiano

Gruppo di Pediatri e AISS (Italian Association for Schwachman Syndrome)

2001/8 — pag. 546-548

56 cases of Schwachman syndrome have been enrolled in the Italian register in order to better define the clinical spectrum. Almost all presented the hallmark of pancreatic insufficiency and hematologic cytopenia. 78% tipical and 41% atypical osseo...

Lo screening della celiachia: le ragioni del medico dell’adulto

B. Ciacci

2000/1 — pag. 26-30

The clinical features of coeliac disease diagnosed in a series of 517 adult patients are described. The most frequent signs and symptoms are iron deficiency anemia, which is particularly prevalent among women, bone demineralization, diarrohea and m...