Cases reported "Fanconi Anemia"

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1/86. Allogeneic bone marrow transplantation in fanconi anemia from turkey: a report of four cases.

    bone marrow transplantation (BMT) is currently the treatment of choice for patients with fanconi anemia (FA) if a suitable donor is available. Four children with FA underwent allogeneic BMT from HLA-identical siblings during the period from 1995 to 1996. Pretransplant conditioning was cyclophosphamide (Cy) (20 mg/kg) Thoracoabdominal irradiation (TAI) (500 cGy) /- Antithymocyte globulin (ATG) (2 mg/kg/day x 3). Cyclosporin A (CsA) was used as GvHD prophylaxis. The time of neutrophil (ANC>500) and platelet (>50,000) recovery were at 11-14 and 17-25 days, respectively. One patient with a pretransplant history of multiple transfusions experienced graft rejection and died at day 29 with infection and bleeding. Although three patients sustained engraftment one developed donor originated acute lymphoblastic leukemia (ALL) 18 months after BMT and died with CNS hemorrhage and infection at 25 months following 7 months of chemotherapy. None of the patients developed grade 3-4 acute GvHD. Cytotoxicity included grade II mucositis in all and severe gastroenteritis in one patient. During a follow-up period of 10 months and 2 years, two patients are well with normal blood count, recovering immune function and have a Karnofsky score of 90%.
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2/86. Detection of monosomy 7 in bone marrow by fluorescence in situ hybridization. A study of fanconi anemia patients and review of the literature.

    monosomy 7 is frequently found in the bone marrow of patients with fanconi anemia (FA), marrow myelodysplasia, or acute myelogenous leukemia and is associated with poor prognosis. In our laboratory, cytogenetic analysis of bone marrow from an FA patient found 2 of 30 cells with monosomy 7, but the results of fluorescence in situ hybridization (FISH) indicated that 83 of 207 cells (40%) had monosomy 7. FISH was then used to analyze two earlier samples from the index case, neither of which had monosomy 7 as determined by standard cytogenetics. The FISH analysis determined that the first sample, taken 19 months earlier, had 8 of 200 cells (4%) with monosomy 7 and the second sample. taken 7 months later, contained 43 of 200 cells (21.5%) with monosomy 7. These results indicate a slow evolution toward monosomy 7 in the patient's bone marrow. Standard metaphase chromosome analysis represents only spontaneously dividing cells, leading us to hypothesize that FISH was detecting monosomy 7 in nondividing cells and that it might be useful in the early detection of abnormal clones. To test this hypothesis, FISH was performed on 13 bone marrow samples from nine patients with FA who did not exhibit monosomy 7 by cytogenetic analysis. monosomy 7 was detected in 3.44% of nuclei in FA patients and in 3% of nuclei in normal controls. To date, none of these nine FA patients have developed monosomy 7 or leukemia. They are being monitored by standard cytogenetics and by FISH to determine whether monosomy 7 develops and whether it can be detected by FISH prior to its detection by standard cytogenetics. As standard practice, we have adopted FISH analysis for monosomy 7 in all patients with FA.
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3/86. Delayed engraftment and mixed chimerism after HLA-identical sibling donor BMT in Fanconi anaemia.

    A 12-year-old girl with Fanconi anaemia (FA) received a bone marrow transplant from her HLA-identical brother following conditioning with cyclophosphamide (20 mg/kg), thoraco-abdominal radiation (TAI) (4 Gy) and equine anti-thymocyte globulin (ATG) (90 mg/kg). Engraftment was delayed and initially tenuous, and was followed by mixed chimerism (MC) over a follow-up period of 2 years. dna analysis of engraftment was performed on whole peripheral blood and on separated granulocytes, B and T lymphocytes using PCR detection of CA tandem repeat polymorphisms. At 10 weeks post BMT, granulocytes were predominantly donor, but B and T lymphocytes recipient, in origin. Over the subsequent 90 weeks, granulocytes and B lymphocytes were donor-derived, whilst T cells showed persistent MC but with an increasing donor component. Marrow haemopoietic function (Hb, ANC and platelet count) improved gradually in parallel with a rise in the proportion of donor lymphocyte engraftment. We postulate that a population of recipient lymphocytes survived conditioning and in turn delayed the development of full donor chimerism. Although transient MC has been described after allogeneic BMT in FA, its association with delayed engraftment, and persistence for more than 1 year post BMT, has not been documented clearly.
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4/86. Failure of allogeneic bone marrow transplantation to correct diamond-Blackfan anaemia despite haemopoietic stem cell engraftment.

    We report the case of a 10-year-old boy with congenital pure red cell aplasia (diamond-Blackfan anaemia) who received an allogeneic bone marrow transplant (BMT) from his HLA-identical sister. The transplant was complicated by moderate veno-occlusive disease (VOD). Despite cytogenetic evidence of complete donor haemopoietic stem cell engraftment there was selective failure of red cell engraftment and he remains red cell transfusion-dependent. This is the first case of a stem cell transplant failing to correct the defect in this condition despite engraftment.
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5/86. pregnancy in bone marrow failure syndromes: diamond-Blackfan anaemia and Shwachman-diamond syndrome.

    pregnancy in bone marrow failure syndromes has risk to mother and fetus. There are fewer than 30 reports of cases with diamond-Blackfan anaemia (DBA), and none with Shwachman-diamond syndrome (SD). We report two DBA and one SD cases. One DBA mother received transfusions intra-partum, and the other only post-partum. Both required caesarean sections (C-sections) for failure of labour to progress and severe pre-eclampsia respectively. Both subsequently resumed pre-pregnancy steroid-induced control of anaemia. approximately 40% of DBA pregnancies required maternal transfusions; 25% delivered by C-section. The SD patient also had Ehlers-Danlos (ED) syndrome and urticaria pigmentosa (UP). Her blood counts were adequate until week 38, when the platelet count dropped and a C-section was performed. pregnancy management in marrow failure disorders requires obstetricians with expertise in high-risk pregnancies, and haematologists with experience with marrow failure syndromes.
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6/86. Fanconi's anemia with solitary crossed renal ectopia, vesicoureteric reflux, and genital abnormalities.

    Fanconi's anemia is an autosomal recessive disease, the main feature being pancytopenia secondary to bone-marrow hypoplasia. However, multiple congenital abnormalities may be encountered, urogenital malformations being common. We describe a patient with solitary crossed renal ectopia, vesicoureteric reflux, hypospadias, and unilateral undescended testis with absent vas deferens.
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7/86. Ataxia-pancytopenia syndrome.

    We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at age 13 years. Cerebral computed tomography scan and magnetic resonance imaging showed evidence of severe cerebellar atrophy. Telangiectasias were not present; immunoglobulins and alpha-fetoprotein levels were normal. Cytogenetic studies showed no evidence of spontaneous chromosome aberrations, a normal rate of diepoxybutane (DEB) and mitomycin C (MMC)-induced chromosome aberrations, but an increased response to bleomycin. The phenotype support the diagnosis of ataxia-pancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder.
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8/86. Severe oesophagitis after allogeneic bone marrow transplantation for Fanconi's anemia.

    Allogeneic bone marrow transplantation (BMT) is an effective treatment for Fanconi's anemia (FA) but it requires a dose reduction of alkylating agents used for conditioning because of the increased sensitivity of FA cells to dna cross-linking agents. Oesophageal damage has not previously been described as a complication after allogeneic BMT for this indication. We report five cases of severe oesophagitis with stenosis in patients transplanted for FA. It occurred either early, or more surprisingly, several years after BMT and could have easily been misdiagnosed. It could be explained by hypersensitivity of the FA mucosal cells to cytotoxic agents despite the reduced doses of cyclophosphamide and irradiation or to non diagnosed congenital abnormalities of the oesophagogastric junction. However, the evolution of the oesophageal disease was favorable in all, and none of the patients developed secondary cancer. awareness of this complication will lead to earlier diagnosis and treatment of oesophageal stenosis and related malnutrition.
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9/86. brucellosis transmitted by bone marrow transplantation.

    We report a unique case of brucellosis transmitted by BMT. An 8-year-old boy with the diagnosis of Fanconi's anemia received an allogeneic BMT from his HLA-identical sibling. Routine culture from the infused marrow suspension grew brucella abortus on day 4 post BMT. Spiking fevers occurred on days 2 and 16. The first febrile episode responded to broad-spectrum antibiotic therapy. However, the second episode did not. B. abortus was isolated from blood cultures taken during the second febrile episode. The Brucella agglutination titer was negative. Antibiotic therapy with oral doxycycline and i.v. gentamycin was successful with no recurrence of infection during 13 months of follow-up. The donor's blood culture was also positive for B. abortus and Brucella antibodies were detectable at 1:320 titer when he presented with fever and hepatosplenomegaly on day 32. We emphasize the need to consider brucellosis in patients undergoing BMT. We suggest that donor and recipient be evaluated for brucellosis especially in countries where the incidence of this infection is relatively high.
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10/86. Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia.

    Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility. A seven-year-old girl with Fanconi's anemia-like congenital aplastic anemia and concurrent asplenia without the congenital heart defects or the abdominal heterotaxia is reported. Asplenia was indicated using denatured red cells labelled with 51Cr, abdominal ultrasonography and computerized tomography. Immunological studies showed immunoglobulins (IgG, IgA, IgM), C3 and C4 levels within normal limits and the percentage of CD3, and C4 cells and the CD4/CD8 ratio decreased. The patient had not been exposed to recurrent pneumococcal infections. We think that isolated asplenia may occur in patients with Fanconi's anemia-like congenital aplastic anemia without the congenital heart diseases or abdominal heterotaxia.
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