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A 5-year-old boy with Shwachman-Diamond syndrome underwent unrelated HLA-identical bone marrow transplantation for severe pancytopenia. Conditioning was with busulfan, thiotepa and cyclophosphamide plus rabbit anti-lymphocyte serum. Engraftment for neutrophils and platelets was observed on days +18 and +41, respectively. Transplant-related side-effects were mild and transient. After a follow-up of 32 months, the patient is alive and enjoys a normal life, off any immunosuppressives. Immunological and hematological reconstitution is complete while other phenotypic characteristics (pancreatic insufficiency, short stature, femur dysostosis) are stable. Although experience in this field is scarce, we speculate that bone marrow failure in Shwachman-Diamond syndrome (even if not linked to the appearance of clonal disorders or leukemic transformation) is an indication for bone marrow transplantation and may be associated with a better outcome.

Several observations suggest an association between long-lasting haemorrhagic cystitis (HC) in bone marrow transplantation (BMT) recipients and human polyomavirus BK (BKV) reactivation, but no conclusive evidence has been obtained so far. The amount of BKV measured in the urine of BMT patients during an episode of HC was compared with that detected in the urine of BMT patients without HC and of immunocompetent individuals in order to better assess the association of BKV reactivation with HC. For this purpose a quantitative competitive PCR was developed. The application of this assay to clinical samples allowed us to distinguish asymptomatic reactivation both in healthy individuals and in immunocompromised patients from reactivation associated with HC, in almost all cases. Low levels, below the sensitivity of the quantitative assay, were shown in asymptomatic healthy individuals and in about 50% of immunocompromised patients. A significantly higher viral load than in the urine of asymptomatic immunocompromised patients was detected in the urine of patients with HC. These data strengthen the hypothesis that BKV reactivation can cause, together with other factors, the majority of late HC in BMT recipients as well as in patients treated for acute refractory lymphoblastic leukemia.

A case of severe allergic reaction arising during treatment with Ambisome and unresponsive to antihistamine and steroid medication is reported. A 2.9-year-old female child with Hurler's syndrome received an allogeneic cord blood transplant from an unrelated donor. During the aplastic phase, liposomal amphotericin B (Ambisome) was administered as part of an empirical treatment for persistent fever. The patient developed an extensive maculopapular rash and severe itching that resolved only on discontinuation of the drug. The patient subsequently had interstitial pneumonia with ingravescent respiratory failure in spite of adequate antibiotic and antiviral treatment. Treatment with conventional amphotericin B was considered essential in this critically ill patient, and the conventional formulation was administered for 20 days without causing any reaction. Severe allergic reaction to Ambisome is a rare event but, taking into account that premedication or dose testing is not recommended for this formulation, careful monitoring of the patient being treated for the first time is warranted.

Thirty-seven patients underwent peripheral blood stem cell (PBSC) collection from May 1994 to May 1997. Twenty-five were males and 12 were females, the median age at collection was 11.5 years (range 1-27.4) and the median weight was 38 kg (range 9-80). As mobilising chemotherapy, cyclophosphamide, etoposide, doxorubicin and cytosine arabinoside were the drugs most frequently used in association with G-CSF for a total of 47 courses. Sixty-one aphereses were performed with a median collection of CD34+ and CFU-GM cells/kg of 3.6 x 10(6) (range 0.6-31.8) and 24.4 x 10(4) (range 0.1-1260), respectively. Minimal residual disease (MRD) was found in five of the 30 investigated aphereses. Twenty-one of the 37 patients underwent high-dose chemotherapy with autologous stem cell rescue: in seven the stem cell source was peripheral blood and bone marrow. The median duration of hospitalization was 18 days for the PBSC group and 23 days for the PBSC/ABMT group. Overall survival was 78.7% at a median follow-up of 18 months (range 2-31) and the DFS was 52% without difference depending on stem cell source. Compared to a historical group of ABMT patients, the PBSC group showed a statistical advantage in terms of neutrophils and platelet engraftment, blood and platelet requirements, and length of hospitalization. PBSC collection is a feasible procedure also in the paediatric setting providing that vascular access is adequate. As already reported, PBSC transplant results in faster engraftment and shorter hospitalization that could allow a better utilization of health financial resources. The question whether the source of stem cells could influence transplant outcome would require a prospective randomised study.