1/32. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.X-linked dyskeratosis congenita (DKC) is characterized by mucosal leukoplakia and ulcerations, skin abnormalities, nail dystrophy, and pancytopenia. Hoyeraal-Hreidarsson syndrome (HHS) includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. A patient with striking features of both HHS and DKC has a de novo mutation in the DKC1 gene, known to be responsible for DKC. HHS may be a severe form of DKC, in which affected individuals die before characteristic mucocutaneous features develop.- - - - - - - - - - ranking = 1keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
2/32. growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, deficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia. Poor growth, intracranial calcifications, developmental delay, and hematological abnormalities are common manifestations of congenital infection. However, humoral immunodeficiency is not characteristic in these infections, and no infection was found on extensive evaluation. Rare genetic syndromes may mimic intrauterine infections and may also include immunodeficiency. However the children reported here lack important characteristics or share distinctive manifestations not described in these disorders. Infants presenting with apparent congenital infections in whom a specific infectious cause cannot be identified should be followed carefully with immunological evaluations since this disorder may be progressive and considerable morbidity is attributable to hematological and immunological manifestations.- - - - - - - - - - ranking = 0.0031516780739177keywords = congenita (Clic here for more details about this article) |
3/32. Auto-immune pancytopenia in a child with digeorge syndrome.We report on the development of auto-immune pancytopenia in a child with digeorge syndrome carrying the 22q11 microdeletion. She had congenital heart disease, dysmorphic facies, thymic hypoplasia, immunodeficiency, velopharyngeal insufficiency, scoliosis, and a hearing deficit. She had a low T-cell count with a normal CD4/CD8 ratio, iga deficiency and a normal lymphoblastic response to mitogens. She has presented with pancytopenia since 10 years of age (leucocytes 3,300/mm(3), haemoglobin 107 g/l, platelets 80,000/mm(3)). Platelet-associated antibodies, anti-neutrophil antibodies and Coombs' positive red cells were present. At 14 years of age, she presented with a severe episode of haemolysis with pancytopenia. steroids were effective in treating the pancytopenia at a dose of 2 mg/kg per day for 6 weeks. Since 15 years of age, she has had episodes of acrocyanosis. At 16 years of age, she still had mild pancytopenia without any treatment. CONCLUSION: the clinical spectrum of the 22q11 microdeletion syndrome is very broad. This case suggests that auto-immune disease such as pancytopenia is part of the 22q11 microdeletion syndrome.- - - - - - - - - - ranking = 0.0015758390369589keywords = congenita (Clic here for more details about this article) |
4/32. Familial severe congenital neutropenia associated with infantile osteoporosis: a new entity.A new entity manifested by severe congenital neutropenia associated with osteoporosis and recurrent bone fracture is described in a family. A possible role for a new recognized cytokine system involved in bone remodeling, the osteoprotegerin/receptor activator of nuclear factor-kappa b ligand, is suggested.- - - - - - - - - - ranking = 0.0078791951847943keywords = congenita (Clic here for more details about this article) |
5/32. Neonatal lupus erythematosus with recurrent pancytopenia: a case report.Neonatal lupus erythematosus is an immune-mediated disease associated with the transplacental passage of maternal autoantibodies, primarily anti-Ro (SS-A) and anti-La (SS-B). The major clinical manifestations are isolated congenital heart block and cutaneous lupus lesions. Other symptoms include hematologic and hepatic abnormalities. We report a male neonate, born to a mother with sjogren's syndrome, who experienced cutaneous lupus lesions and 2 episodes of pancytopenia. Both anti-Ro and anti-La antibodies were positive in infant and mother.- - - - - - - - - - ranking = 0.0015758390369589keywords = congenita (Clic here for more details about this article) |
6/32. The role of mitochondrial-mediated apoptosis in a myelodysplastic syndrome secondary to congenital deletion of the short arm of chromosome 4.OBJECTIVE: myelodysplastic syndromes (MDS) are characterized by peripheral cytopenia and ineffective hematopoiesis. In adult-onset MDS and in certain inherited marrow failure syndromes, apoptosis is increased and is mediated mainly through activation of the Fas pathway. It is unclear whether the various myelodysplastic disorders share the same apoptosis pathways. I investigated apoptosis pathways in a patient with refractory cytopenia with ring sideroblasts associated with congenital 4p deletion to determine the mechanism for bone marrow failure. methods: Marrow cells and lymphoblast cell lines generated from peripheral blood were analyzed for apoptosis and protein expression by flow cytometry, Western blot, and confocal microscopy, either directly or after gamma irradiation (15 G). Cell viability after treatment with inhibitors of specific apoptosis pathways was also determined. RESULTS: Compared to controls, the patient's marrow and lymphoblastoid cells showed significantly higher apoptosis rates and activation of caspase-3. Investigation of the mitochondrial apoptosis pathway showed a consistent pro-apoptosis profile, namely, upregulation of Bax, Bax-alpha, cytochrome c, and Apaf1, and low bcl-2. Differences between the patient's and the normal cells were further accentuated after irradiation; p53 expression was strikingly higher in the patient only after irradiation. In contrast, Fas and FADD expression on the patient's and the control's cells were comparable. Addition of caspase 3 or caspase 9 inhibitors markedly increased patient cell viablity, but blocking anti-Fas antibody did not. CONCLUSION: The ineffective hematopoiesis in this case is explained by increased apoptosis and is linked to hyperactivation of the mitochondrial cell death machinery and not to the Fas pathway, which might be secondary to an intramitochondrial defect. This information is crucial because the development of anti-apoptotic agents for the treatment of MDS may not be universally efficacious and should target the specific derangement.- - - - - - - - - - ranking = 0.0078791951847943keywords = congenita (Clic here for more details about this article) |
7/32. Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin.dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy, mucosal leucoplakia, and bone marrow failure. pancytopenia is difficult to manage in patients with this disorder. We describe a 13-month-old-boy who presented with reticulate skin lesions, paleness, and hepatosplenomegaly. anemia and leukopenia developed by the age of 43 months. The patient was treated with granulocyte-macrophage colony-stimulating factor (GM-CSF) (5 microg/kg/d, subcutaneously) for 19 months and erythropoietin (150 U/kg 3 days in a week, subcutaneously) for 8 months, with excellent neutrophil and hemoglobin response. Recurrent infections were not developed after starting GM-CSF, and packed red blood cell transfusion was not given to the patient after starting erythropoietin. GM-CSF combined with erythropoietin may be used in the treatment of bone marrow failure in patients with DC without an HLA-identical donor.- - - - - - - - - - ranking = 0.80157583903696keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
8/32. dyskeratosis congenita: delay in diagnosis and successful treatment of pancytopenia by bone marrow transplantation.dyskeratosis congenita is an inherited disorder characterized by nail dystrophy, skin pigmentary changes, mucosal leukoplakia, pancytopenia and an increased incidence of malignancy. Because of a widely held view that the outcome of bone marrow transplantation in dyskeratosis congenita is poor, this treatment option is sometimes not considered when pancytopenia develops. We present a child currently doing well 3 years after bone marrow transplantation, and review the literature.- - - - - - - - - - ranking = 0.20787919518479keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
9/32. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase rna.Aplastic anaemia in adults is usually acquired, but rarely constitutional types of bone marrow failure can occur late in life. We assessed two families with onset of pancytopenia in adults and detected two novel point mutations in the telomerase rna gene (TERC) in each family. This gene is abnormal in some kindreds with dyskeratosis congenita. Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all had severely shortened telomeres, reduced haemopoietic function, and raised serum erythropoietin and thrombopoietin. Bone marrow failure of variable severity due to dyskeratosis congenita, historically characterised by associated physical anomalies and early pancytopenia, may be present in otherwise phenotypically normal adults, and can masquerade as acquired aplastic anaemia.- - - - - - - - - - ranking = 1.4keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
10/32. Oral-dental findings in dyskeratosis congenita.A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia, growth retardation, alopecia, mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.- - - - - - - - - - ranking = 1keywords = dyskeratosis congenita, dyskeratosis, congenita (Clic here for more details about this article) |
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