Pancitopenia

Wilson Wilson Wilson

Carciofi A, Pugliese F, D'alba I, Coccia P, Lionetti ME, Gatti S

2025/5 — pag. 120-121 — DOI

A 13-year-old boy was admitted with abdominal pain, vomiting and unexplained cytopoenia. Initial investigations showed splenomegaly, ileal wall thickening, hepatic structural alterations and persistent pancytopenia. Extensive infectious, haematologic...

Una carenza di vitamina B12... contagiosa

Acone F, Gustuti V

2025/3 — pag. 73-74 — DOI

The paper reports the case of a seven-month-old infant presenting with recurrent vomiting, severe pallor, hypotonia and growth arrest. Laboratory tests revealed pancytopenia with macrocytic anaemia, hyperhomocysteinemia and markedly elevated methylma...

Una strana pancitopenia: dalla gestione in urgenza alla diagnosi genetica

Di Filippo M, Rossoni L, Nebiolo M, Fioredda F, Carrato V, Pirlo D

2024/10 — pag. 201-206 — DOI

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder caused by a mutation in the WAS gene that codes for the WASp protein, which is involved in the functioning of the cytoskeleton of non-erythroid haematopoietic cells. This mutation lea...

Anarchia alimentare e deficit di vitamina B12

Lepri I

2023/5 — pag. 92-92 — DOI

The diagnosis of vitamin B12 deficiency was finally made in a 5-year-old girl following a very selective diet and presenting with weight loss, abdominal pain and severe peripheral pancytopenia....

Quando la linfoistiocitosi emofagocitica è secondaria

Ventresca S, Fabbri E, Bracaglia C, Gasperini P, Filippini B, Libertucci F, Bigucci B, Pericoli R, Vergine G.

2022/2 — pag. 97-102 — DOI

The paper describes the case of a 1-year-old Caucasian boy with a 1-month history of fever and splenomegaly. Laboratory findings showed pancytopenia, hypertriglyceridemia and hyperferritinemia. Secondary haemophagocytic lymphohistiocytosis was suspec...

Epatite autoimmune e citopenia

A. Troisi, S. Bertelli, G. Maggiore, R. Burnelli

2020/3 — pag. 63-64

La sindrome di Pearson

P. Farruggia, F. Di Marco, C. Dufour

2018/6 — pag. 371-377

Pearson syndrome is a sporadic and very rare progressive generalised disorder with heterogeneity in clinical expression classically associated with single large-scale deletions of mitochondrial DNA: it is characterised by refractory sideroblastic a...

Un fenotipo ALPS e una diagnosi inaspettata... di malattia di Gaucher

A. Beccaria, A. Mariani

2017/6

Aplasie midollari acquisite in età pediatrica: raccomandazioni diagnostico-terapeutiche

Gruppo di Lavoro “Insufficienze Midollari” dell’AIEOP

2014/6 — pag. 383-389

Acquired Aplastic Anaemia (AA) is a rare heterogeneous disease characterized by pancytopoenia and hypoplastic bone marrow. The incidence is 2-3 millions per year (all age groups) in Europe, but is higher in East Asia. The pathogenesis of AA is comp...

Tanto volume per nulla…

E. Alberti, C. Domenici, F. Massei, M. Nardi, C. Favre, R. Domenici

2014/4

Leishmania: un parassita, molte infezioni

S. Virano, D. Le Serre, S. Garazzino, E. Silvestro, P.A. Tovo

2012/8

A 10-year-old child presented with persistent fever, relevant hepatosplenomegaly and pancytopenia. Abdominal US imaging, serology for most relevant pathogens and Leishmania, PCR for Parvovirus B19 and bone marrow sample were performed in order to...

Un caso di trombocitopenia neonatale refrattario a terapia trasfusionale

M. Tei, S. Cornacchione, G. Stazzoni, S. Bertrando, C. Coviello, S. Perrone, G. Buonocore

2012/4

Storie di immigrati

I. Giuseppin

2007/5

Un caso di eritrofagocitosi secondaria a leishmaniosi nell'entroterra friulano

F. Minen, C. Oretti, F. Marchetti, G. Zanazzo, M. Maschio, D. Lizzi, A. Ventura

2007/5

Quando una sepsi neonatale nasconde una malattia metablica

C. Forino, C. Rodriguez-Perez

2005/1

Manifestazioni ematologiche nelle malattie mitocondriali con mutazione del mt-DNA

R. Cerchio, F. Timeus, P. Saracco, L. Garbarini, P. Quarello, M. Forni, L. Montezemolo, U. Ramenghi, M. Zeviani

2005/1

Una strana pancitopenia: un caso di anemia di Fanconi

E. Neri, M. Rabusin, M. Spaccini, G. Zanazzo e P. Tamaro

2003/4

Anemia di Fanconi con fenotipo normale

2003/4 — pag. 258

Fanconi anemia is a rare disease, with normal phenotype in a third of the cases. It is characterized by aplastic anemia/pancytopenia, macrocytosis and chromosomal abnormality, which is responsible of the high risk of cancer...