Pancytopenia

Quando le anemie sono una questione di VITA... MINE

Passarella T, Alboreto E, Costagliola C, Serafino F, Di Jorgi M, Arcuri L, Calvillo M

2025/9 — pag. 249-250 — DOI

The paper reports two paediatric cases of severe macrocytic anaemia due to vitamin B12 deficiency. Both patients presented with cytopenia and neurological involvement, which improved with hydroxocobalamin supplementation. These cases highlight the im...

Occhio all'emocromo... prima che sia tardi

Di Noto F, Lo Meo F, Marra G, Dimartino G, Gilotta C, Genduso M, Ferraro T, Allegra M, Guarina A, Cardella F, Corsello G

2025/7 — pag. 190-191 — DOI

A 5-year-old boy, presented with hematemesis, diffuse petechiae, epistaxis, respiratory distress and severe pancytopenia. After poor response to immunoglobulin and steroid therapy, bone marrow evaluation revealed trilineage cytopenia. The combination...

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...

Infezione da parvovirus B19: non solo “faccia schiaffeggiata”

Riccio S, D’Urzo G, Amendolara M, Aurino A, Avallone G, Prete A, Villano P, Masini L.

2025/4 — pag. 259-260 — DOI

Parvovirus B19 infection occurs in children with the typical “slapped cheek” rash, associated or not with fever and general malaise. The most affected age group is school-age children (4-11 years), with outbreaks in winter and summer seasons. Alongsi...

"Amici per la pelle": un caso di leishmaniosi

Fantasia M, Vecchi M, Cavalleri L, Bruni F, Provenzi M

2025/4 — pag. 81-85 — DOI

Leishmaniasis is an infectious disease caused by protozoa of the Leishmania genus, parasites of humans and several domestic and wild animals, and transmitted via vectors. The authors describe the case of an 18-month-old girl, presenting to the Emerge...

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...

Febbre e citopenia nel neonato: pensa anche all'HLH (e dosa la ferritina!)

Operti M

2024/4 — pag. 80-81 — DOI

The author describes the case of a newborn with fever and cytopenia, eventually diagnosed as familial hemophagocytic lymphohistiocytosis....

Un caso complesso di citopenia trilineare ed epatite gigantocellulare

Comella M, Licciardello M, Miraglia V, Russo G

2023/8 — pag. 165-165 — DOI

The case of a five-year-old boy presenting with autoimmune anaemia, neutropenia and thrombocytopenia associated to giant cell hepatitis is described. The diagnosis of ALPS-like syndrome was eventually made....

Anarchia alimentare e deficit di vitamina B12

Lepri I.

2023/5 — pag. 331-334 — 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....

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...

CAMT: trombocitopenia amegacariocitica congenita

V. Carrato

2020/9 — pag. 239-239 — DOI

Epatite autoimmune e citopenia

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

2020/3 — pag. 63-64

Zoppia, citopenia e VES: pensa anche al neuroblastoma

S. Andrade

2019/10 — pag. 250-250

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...

Epatite autoimmune e anemia aplastica

M. Pavan

2018/2

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

A. Beccaria, A. Mariani

2017/6

Malaria: un sospetto da non dimenticare anche in Italia

E. Altieri, R. Calzedda, M.E. Donadio, C. Tortone, S. Garazzino, P. Tovo

2016/5

Una febbre alta e persistente con epatosplenomegalia e citopenia

L. de Seta, M.S. Sabatino, F. de Seta, P. Siani

2015/7 — pag. 431-441

The case described is that of an 11-year-old child presenting with high fever, pharyngotonsillar exudate, submandibular strangles and hepatosplenomegaly. The elevated number of VCA IgM antibodies led to a diagnosis of infectious mononucleosis. The ...

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

I meriti degli altri

E. Barbi

2009/3

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 — pag. 325-327

The present report describes the case of a 2-year-old girl that lives in Northern Italy suffering from a one month lasting fever, pallor and hepatosplenomegaly. Serum testing showed pancytopenia, high levels of immunoglobulins, hypertriglyceridemia a...

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

Dalla clinica all'esame strumentale: un ragazzo con sepsi e dolore alla gamba

Z. Cannioto, S. Storelli, F. Zennaro, J. Schleef, F. Marchetti

2006/2

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

Quando una sepsi neonatale nasconde una malattia metabolica

C. Forino, C. Rodriguez-Perez

2005/1 — pag. 58-58

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He devel...

Manifestazioni ematologiche nelle malattie mitocondriali con mutazione dell’mt-DNA

R. Cerchio, F. Timeus, P. Saracco, et al.

2005/1 — pag. 57-58

We report a 10-month-old girl who, at the age of 4 months, was admitted for increasing pallor. Severe normocytic anaemia, neutropenia and thrombocytopenia and typical diffuse vacuolization of marrow haemopoietic precursors were present. She also ...

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...

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