Cases reported "Fanconi Anemia"

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1/31. 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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keywords = pancytopenia
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2/31. 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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ranking = 6
keywords = pancytopenia
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3/31. 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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keywords = pancytopenia
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4/31. aggressive periodontitis associated with Fanconi's anemia. A case report.

    BACKGROUND: Fanconi's anemia is an autosomal recessive disease associated with chromosomal breakage as well as pancytopenia, skin pigmentation, renal hypoplasia, cardiac defects, microcephaly, congenital malformations of the skeleton, hypogonadism, and increased risk of leukemia. The present report describes the periodontal clinical and microbiological status of an 11-year old male having Fanconi's anemia. methods: polymerase chain reaction analysis to detect human cytomegalovirus (HCMV), Epstein-Barr type 1 virus, and herpes simplex virus (HSV) was performed on paper-point samples pooled from either 3 periodontal sites with advanced attachment loss or 3 gingivitis sites with no clinical attachment loss. Anaerobic bacterial culture examination was performed on the pooled periodontitis sample. RESULTS: The patient suffered from pancytopenia, allergy, asthma, hearing impairment, and mental retardation. dentition consisted of 7 primary teeth, 11 erupted permanent teeth, and 14 unerupted permanent teeth. Most erupted teeth showed severe gingival inflammation with some gingival overgrowth and various degrees of periodontal attachment loss. Genomes of HCMV and HSV were detected in the pooled periodontitis sample and HCMV in the pooled gingivitis sample. The periodontitis sample but not the gingivitis sample revealed HCMV mRNA of major capsid protein, suggestive of active viral infection. The periodontitis sample also yielded actinobacillus actinomycetemcomitans (1.1% of total isolates), fusobacterium species (7.9%), campylobacter species (2.2%), peptostreptococcus micros (3.4%), and candida albicans (0.3%). CONCLUSIONS: Oral features of Fanconi's anemia may include increased susceptibility to periodontitis. It is likely that underlying host defense impairment coupled with periodontal infection by HCMV and A. actinomycetemcomitans contribute to the severe type of periodontitis associated with Fanconi's anemia.
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ranking = 2
keywords = pancytopenia
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5/31. fanconi anemia and primary cataracts: first case.

    fanconi anemia or pancytopenia is an autosomal recessive condition presenting with a combination of pancytopenia with a mean age of onset of about eight years, a tendency to leukemia, and congenital anomalies. Although ocular abnormalities have been described, cataracts have not been previously reported. We present a patient with proven fanconi anemia and cataracts.
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6/31. Vulvar cancer with Fanconi's anemia and neutropenic fever: a case report.

    BACKGROUND: Fanconi's anemia (FA), an autosomal-recessive aplastic anemia, was first described in 1927. patients usually die from complications of pancytopenia. The longer patients survive the underlying anemia, the higher the risk of other cancers, particularly leukemias, hepatocellular cancer and squamous cell tumors. This report is the sixth reported case of vulvar cancer in a young woman with FA since 1966. CASE: A 25-year-old woman with FA was admitted with neutropenic fever; a rapidly growing, suppurative vulvar mass; and trichomonas vaginalis. The patient had maintained routine, preventive gynecologic care, and 4 months prior to admission she had complete removal of a benign vulvar condyloma and no evidence of genital tract cancer. We removed the vulvar mass to relieve discomfort and eliminate an infectious source. The mass was an invasive squamous cell carcinoma of the vulva arising in a vulvar condyloma. Within 2 months of the diagnosis, the patient developed bulky disease metastatic to the lungs and inguinal lymph nodes. CONCLUSION: FA patients are at high risk of squamous cell tumors, and gynecologic examinations should begin at menarche. However, despite adequate screening, rapidly progressing solid tumors of the genital tract can develop in these immunosuppressed patients, who have a defect in dna repair genes.
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keywords = pancytopenia
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7/31. fanconi anemia in a neonate with pancytopenia.

    We report the case of a newborn infant with fanconi anemia with congenital thrombocytopenia and development of pancytopenia during the neonatal period. The boy showed no malformations characteristic for fanconi anemia.
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ranking = 5
keywords = pancytopenia
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8/31. Naso-orbicular tissue necrosis by Streptococcus parasanguis in a patient with fanconi anemia: clinical and laboratory aspects.

    fanconi anemia (FA) is a rare autosomal recessive disorder, characterized by pancytopenia and progressive hypoplasia of the bone marrow. A 23-year-old woman with FA showed severe pancytopenia and developed an abscess on the infraorbicular region on the right side of the face that progressed to phlegmon and caused tissue necrosis of the nostrils, nasal septum, nasal fossa, and posterior orbital region. Laboratory examination showed Streptococcus parasanguis as the etiologic agent of the phlegmon. Supportive treatment was recommended due to donor incompatibility for bone marrow transplant. The intraoral examination showed spontaneous gingival bleeding, edema of the interdental papillae, hematomas on the superior and inferior lips, bacterial and fungal infections, and adequate oral hygiene. The patient was treated with the administration of an antibiotic (imipenem), an antifungal (amphotericin b), and mouth washing with antiseptic solutions. Periodontal prophylaxis and orientation to and control of oral hygiene and diet were also used during the remission period. For functional and esthetic rehabilitation of the alar regions and nasal dorsum, an acrylic resin nasal prosthesis was made, supported by a spectacle frame.
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ranking = 2
keywords = pancytopenia
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9/31. The clinical and biological overlap between nijmegen breakage syndrome and fanconi anemia.

    fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome, is characterized clinically by developmental abnormalities, growth retardation, progressive bone marrow failure, pancytopenia, and pronounced cancer predisposition. nijmegen breakage syndrome (NBS) is a related disorder that shares overlapping clinical features, principally, developmental delay, microcephaly, and cancer predisposition. The diagnosis has relied on chromosomal instability following exposure to DNA cross-linking agents in FA and to ionizing radiation (IR) in NBS. We describe two patients who clinically had FA, but showed sensitivity to both DNA cross-linking agents and ionizing radiation, and who were found to have a rare mutation in the NBS gene. The importance of genetic diagnosis with respect to treatment and prognosis is discussed.
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keywords = pancytopenia
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10/31. Use of the glycophorin A somatic mutation assay for rapid, unambiguous identification of fanconi anemia homozygotes regardless of GPA genotype.

    A 7-year-old girl was hospitalized with pancytopenia requiring blood transfusion. She and an older brother with suspicious symptoms were referred for laboratory testing to confirm a clinical diagnosis of fanconi anemia (FA). Blood samples from these two children and one parent were examined with the GPA somatic mutation assay. The patient's total GPA somatic mutation frequency of 1.4 x 10(-4) was determined despite the confounding effects of her recent transfusion, and was greater than 10-fold higher than that of a population of pediatric controls, consistent with the known FA phenotype. Her brother was not informative for the standard GPA assay, which requires heterozygosity for the MN blood group, but was analyzed with a modified assay that measured only allele loss mutation. His mutation frequency, 6.8 x 10(-4) was also supportive of a diagnosis of FA. Both analyses also showed evidence of ongoing mutation through terminal erythroblast differentiation, a characteristic of patients with dna repair syndromes which further confirmed the diagnoses. These conclusions were confirmed with traditional DEB-induced chromosome breakage studies. The quantitative and qualitative aspects of the GPA assay relevant for applying this test for FA diagnosis, and perhaps for carrier detection, are discussed.
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keywords = pancytopenia
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