Bone Marrow Failure Disorders

Sapere riconoscere la discheratosi congenita

Ballaben A.

2026/1 — pag. 54-56 — DOI

Ginevra was examined at age 14 for neurological and inflammatory symptoms (paresthesia, muscle weakness and xerostomia). The clinical picture remained unclear until the discovery of severe onychodystrophy, which had been hidden for years by nail p...

Un caso di anemia macrocitica non megaloblastica: la sindrome di Blackfan Diamond

Aquisti G, Basso ME, Rabbone I

2024/5 — pag. 92-93 — DOI

The case of a two-year-old child with severe isolated anaemia (6 g%) and marked macrocytosis, ultimately diagnosed as Blackfan Diamond syndrome, is described. The genetic, clinical and prognostic aspects of the disease are briefly discussed....

Quando l’anemia viene da un’infezione da parvovirus

Tolomelli E, Legnani E, Grasso A

2023/3 — pag. 53-53 — DOI

The author describes the case of a 2-year-old boy presenting with aplastic anaemia due to documented parvovirus infection of the bone marrow without a specific seroconversion....

Una anemia congenita macrocitica refrattaria: pensa all’anemia di Blackfan-Diamond

S. Andrade

2018/3

Epatite autoimmune e anemia aplastica

M. Pavan

2018/2

Sindrome da encefalopatia posteriore reversibile. Neurotossicità da ciclosporina

M.V. Abate, A. Proia, A. Locasciulli, A. Ventura

2015/8

Reversible posterior encephalopathy syndrome (PRES) is a clinic-radiologic syndrome characterized by headache, altered mental status, visual and motor symptoms and radiological lesions documented on brain MRI. PRES is characterized by a complete reve...

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...

L’anemia di Diamond-Blackfan, la mia compagna

C. Rota, F. Parizzi, N. Masera, D. Longoni, U. Ramenghi, M.E. Villa, G. Masera

2012/9 — pag. 578-582

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...

Sindrome di Shwachman-Diamond: uno studio collaborativo

L. Giglio, P. Petaros, E. Neri, et al.

2002/2 — pag. 85-89

Shwachman-Diamond (SD) syndrome is a genetic disease inherited as an autosomal-recessive character, with quite variable clinical expression, course and prognosis. The mechanisms of the disease are still not well understood, but effective symptomati...

Una caso di mielodisplasia... da parvovirus!

E. Barth, G.A. Zanazzo, M. Rabusin, P. Tamaro

2002/1

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...

Sensibilità degli anticorpi anti-transglutaminasiEtica letaleGli ultimi cinquant’anni della PediatriaUno studio italiano sulla sindrome di Shwachman

2000/8 — pag. 489-491

La quinta malattia

F. Panizon

1999/1 — pag. 50-52

Eritroblastopenia transitoria del bambino

F. Massei, M. Nardi, C. Favre e coll.

1998/4 — pag. 247-250

The Authors describe the diagnostic, therapeutical and prognostic features of transient erythroblastopenia of childhood (TEC) and report 5 cases. This disorder usually occurs in children aged between 6 mounts and 5 years. The clinical picture is...