[Singular etiology of inherited aplastlc anemia: a case report of congenital dyskeratosis]

Congenital Dyskeratosis [CD] is a severe inherited disease characterised by a triad of clinical manifestations including abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. Other clinical manifestations including lung fibrosis and liver cirrhosis worsen the prognosis. Bone marrow hypoplasia is frequently reported, 50 per cent of patients develop pancytopenia before the age of 10 years. We report here the first Tunisian case of DC diagnosed in paediatric age and revealed by a severe bone marrow failure by the age of ten years. The classic triad appeared in the first decade, epiphora, blepharitis, teeth abnormalities and a single kidney were also noted. Androgen therapy stabilised peripheral cytopenia and, decreased the need of red blood cell transfusion

Hemorragia macular en anemia aplásica. Reporte de un caso / Macular hemorrhage in plastic anemia: A case report

Se presenta el caso de una paciente mujer de 31 años, con diagnóstico de anemia aplásica, quién refería disminución de agudeza visual central en el ojo derecho. Al examen del segmento anterior no había signos de sangrado. A la fundoscopía se encontraron hemorragias retinales en mancha en distinto cuadrante en cada ojo; hemorragia macular que comprometía la fovea en el ojo derecho y hemorragia preretinal con nivel en el cuadrante temporal inferior en el ojo izquierdo. Su evolución fue desfavorable, a la semana, presentó gran compromiso del sensorio, malestar general y al examen oftalmológico se encontraron hematomas subconjuntivales en ambos ojos como signo evolutivo de la severa plaquetopenia.(Rev Med Hered 2007;18:45-48).

Acute myeloid leukemia with severe aplastic anemia following immunosuppressive therapy.

Severe aplastic anemia (AA) is a life-threatening condition wherein bone marrow transplantation (BMT) is the therapy of choice in a young patient who has a matched sibling donor. Here, we report an 11-year-old boy with severe AA who was referred for BMT late in its course when he had developed acute myeloid leukemia following two courses of immunosuppressive therapy with antithymocyte globulin and cyclosporin. He was then treated with induction therapy using cytosine arabinoside and daunomycin for acute myeloid leukemia, but he succumbed due to infection and refractory leukemia. We discuss the relevance of early referral for BMT in severe AA.

Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.

BACKGROUND AND OBJECTIVES: A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. METHODS: Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). RESULTS: Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. INTERPRETATION AND CONCLUSION: Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.

Paroxysmal nocturnal hemoglobinuria in childhood: an uncommon presentation.

An eight year old boy presented with severe anemia and bleeding spots. Complete blood count showed pancytopenia. There was mild reticulocytosis. Bone marrow was hypocellular with normoblastic erythroid hyperplasia. Ham's test (acidified serum test) was positive which confirmed the diagnosis of Paroxysmal nocturnal hemoglobinuria (PNH). Although PNH is rare in childhood, it should be considered as a diagnostic possibility in cases of aplastic anemia as the two conditions can coexist. The presence of PNH in association with aplastic anemia can influence the outcome of the latter.

Falla hepática fulminante por parvovirus B 19 y trasplante hepático, caso clínico / Acute liver failure by Parvovirus B19 and liver transplant: case report

Introducción: La infección por parvovirus humano B19 (PHB 19) produce un amplio rango de enfermedades que van desde eritema infeccioso en niños hasta artritis aguda en adultos. Algunos estudios sugieren un rol patogénico del PHB 19 en el desarrollo de la hepatitis aguda (HA) y falla hepática fulminante (FHF) en niños y adultos. La Anemia aplástica (AA) es una complicación reconocida de la HA y FHF por PHB 19. Objetivo: Reportar un caso de FHF por infección por PHB 19 y revisar la literatura. Caso clínico: Niña de 7 años de edad con HA que en una semana desarrolló FHF con serología IgM anti-PHB 19 positiva. Otras causas virales, autoinmunes, metabólicas o toxicas fueron descartadas. Fue sometida a trasplante hepático ortotópico (THO) y un año después no ha presentado complicaciones. Conclusiones: El PHB 19 puede causar HA y FHF, su oportuno diagnóstico y tratamiento, que en el caso de la FHF incluye el THO puede resultar en un pronóstico favorable.

Role of stem cell factor and its receptor in the pathogenesis of pediatric aplastic anemia / 华中科技大学学报（医学）（英德文版）

In order to investigate the levels of stem cell factor (SCF) and its receptor c-kit protein and mRNA in pediatric aplastic anemia (AA) and their relevance to the pathogenesis, immunocytochemical and in situ hybridization were utilized to detect the expression of SCF and its receptor c-kit gene protein and mRNA, respectively in 59 children with AA and 51 normal controls. The relationship between SCF and c-kit and the pathogenesis of AA was analyzed subsequently. The results showed that the positive rate of SCF protein and mRNA expression in children with AA was significantly lower than that in healthy controls (P 0.05). It was concluded that the expression of SCF is significantly decreased in children with AA, which may be closely associated with the pathogenesis of the AA. c-kit may be unrelated to the development of pediatric AA. Therefore, AA in children may have abnormalities at SCF/c-kit signal transduction levels.

An Adult with Aplastic Crisis induced by Human Parvovirus B19 as an Initial Presentation of Hereditary Spherocytosis

The association between aplastic crisis and human parvovirus (HPV) B19 infection is well described in patients with sickle cell anemia. This association has also been described, although much less frequently, in patients with hereditary spherocytosis (HS). However, most cases of aplastic crises in patients with HS and induced by HPV B19 have been reported in children or adolescents. In this paper, we describe an aplastic crisis induced by HPV B19 in an adult with HS. A 34-year-old female presented with presyncope, febrile sensation, and myalgia. The complete blood counts showed severe anemia. The peripheral blood smear revealed spherocytosis with reticulocytopenia and pancytopenia. The direct Coombs' test was negative; the osmotic fragility test was positive. In the bone marrow aspirates, a few giant pronormoblasts with deep blue cytoplasm, pseudopods, and intracellular inclusion bodies were observed. The patient was given eight units of packed red blood cells. HPV B19 infection was proven by the presence of IgM antibodies to HPV B19 and the detection of viral DNA using the PCR technique. To the best of our knowledge, this is the first report in Korea that describes an adult with aplastic crisis presenting initially with HS.

Aplasia medular tratada exitosamente con ciclosporina en un paciente en hemodiálisis crónica / Bone marrow aplasia during hemodialysis successfully treated with cyclosporine: report of one case

A 28 years old male on chronic hemodialysis for 40 months due to a IgA crescentic glomerulonephritis developed pancytopenia (hematocrit 16 percent, white blood cell count 3.800 mm3 and platelets 11.000 mm3. The bone marrow aspirate showed erythropoietic hyperplasia. Hemolytic anemia, folate or vitamin B12 deficiency and paroxysmal nocturnal hemoglobinuria were ruled out. Steroids were given with a transient elevation of red cells and platelets, which lasted only for some weeks. Afterwards, intravenous immunoglobulin was given without benefit. Two months after, a bone marrow biopsy and a bone marrow magnetic resonance imaging showed severe aplasia. Cyclosporine was started with a rapid increase in blood cells count. Eight months later, he received a renal transplant from a cadaveric donor. Immunosupression was achieved with cyclosporine, prednisone and mycofenolate mofetil. The patient required hemodialysis for the first three weeks and a mild acute cellular rejection was treated with methylprednisolone. At discharge, 6 weeks later, serum creatinine was 2.4 mg/dl and creatinine clearance 37.6 ml/min. During the first months after transplant, platelet count and hemoglobin decreased and a bone marrow biopsy showed only mild hypoplasia. Four months after renal transplant the hematocrit was 43 percent, white blood cell count 6.600 mm3 and platelets, 150.000 mm3 and did not change during the first year of follow up (Rev Méd Chile 2004; 132: 989-94).

Paroxysmal nocturnal hemoglobinuria with onset in childhood: a case report.

A twelve-year-old boy presented with recurrent episodes of anemia. Complete blood counts showed pancytopenia. Bone marrow was hypercellular with erythroid hyperplasia and depleted stores of iron. Positive Ham's test and sucrose lysis test revealed that he had paroxysmal nocturnal hemoglobinuria. There was a delay of nearly two years in the diagnosis in this patient. Paroxysmal nocturnal hemoglobinuria is rare in childhood. It must however be considered in a child who presents with unexplained anemia or bone marrow failure so that an early and accurate diagnosis is reached.

Role of interferon-alpha, interleukin-1 beta and T cell activation in aplastic anemia pathogenesis

The present work was performed to clarify the role of stimulatory cytokine as IL-1 beta and inhibitory cytokine as IFN-gamma and T cell activation evidenced by CD25 expression in the pathogenesis of aplastic anemia. Twenty-eight newly diagnosed aplastic anemia patients and 15 age and sex matched healthy controls were included in this study. An estimation of IL-1 beta, IFN-gamma and the percentage of CD25 expression was done to all patients and controls. IFN-gamma was significantly higher in AA patients as compared with the age matched controls. IL-1 beta was significantly lower in AA patients as compared with the controls. The percentage of CD25 expression was significantly higher in AA patients as compared with the controls. There was a highly positive significant correlation between IFN-gamma and leucocytopenia. There was a negative significant correlation between IL-1 beta and each of age and leucocytopenia. There was a highly positive correlation between CD25 expression and Hb level of the patients

Anemia aplástica adquirida del adulto. Su tratamiento a propósito de dos casos / Acquired aplastic anemia of the adult: the treatment of two cases

Severe aplastic anemia has an elevated mortality if treatment is unsatisfactory. Immunosuppression is the treatment of choice in adults, comparable with allogeneic bone marrow transplant in children. We report two adult patients (both males, aged 59 and 67 years old) who were treated successfully with lymphoglobulin and cyclosporine. The initial response started within 3 months of treatment and was almost complete after 2 years, when cyclosporine was stopped. After three years, both patients have almost normal blood counts, with minor sequels: avascular necrosis of both femoral heads due to the use steroids, that recovered spontaneously in 1 patient and reduced vision due to thrombocytopenic retinal hemorrhages, in the other (Rev Méd Chile 2003; 131: 1439-43).

Aplastic anaemia following varicella infection with coexistent microfilaremia of Wuchereria bancrofti--a case report.

Filariasis is a common public health problem in various regions of Indian subcontinent. There are many reports describing detection of microfilaria in different organ systems. There are limited number of reports available describing the presence of microfilaria in bone marrow. Here we report a young patient who developed aplastic anaemia following varicella infection. Peripheral blood and bone marrow showed many microfilariae of Wuchereria bancrofti. There are no reports describing this unique combination in the available literature.

Pancytopenia--a clinico haematological study of 200 cases.

The present study was designed to ascertain the percentage of occurrence and causes of pancytopenia. All the cases of pancytopenia from July 2001 to June 2002 (one year) were examined in the Department of haematology, Safdarjung Hospital, New Delhi. Bone marrow aspirations/biopsy were performed in most of the cases (200 out of 250 cases). The commonest cause of pancytopenia, in our hospital was Megaloblastic anaemia (72%), followed by Aplastic anaemia (14%) and others.

Aplastic crisis caused by parvovirus B19 in an adult patient with sickle-cell disease / Crise aplástica por parvovírus B19 em um paciente adulto com doença falciforme

Descreve-se um caso de crise aplástica devida ao parvovírus B19 num paciente adulto, manifestando-se por palidez, cansaço, lipotímias e dispnéia. A ausência de reticulócitos chamou a atençäo para o diagnóstico. Detectaram-se IgM e IgG anti-B19. Reticulocitopenia em pacientes com anemia hemolítica hereditária sugere infecçäo por B19

Transplante de medula óssea em anemias aplásticas / Bone marrow transplantation for aplastic anemia

As aplasias medulares compreendem entidades clínicas adquiridas e congênitas que, através de mecanismos distintos, determinam reduçäo acentuada da celularidade da medula óssea em uma ou mais linhagens, sem infiltraçäo neoplásica ou fibrose. A intensidade das citopenias, no sangue periférico, confere a gravidade da doença, particularmente quando relacionada à trombocitopenia e à neutropenia. A Anemia Aplástica Severa (AAS) adquirida é a entidade mais freqüente deste grupo e seu tratamento consiste em medidas de suporte, terapia imunossupressora (TI) e transplante de medula óssea (TMO). O tratamento de suporte é fundamental para evitar complicaçöes fatais, especialmente hemorragias e infecçöes. A escolha do tratamento definitivo, TI ou TMO, fundamenta-se na intensidade da neutropenia, na idade do paciente e, obviamente, na existênca de doador aparentado HLA idêntico. O TMO está indicado nos casos de AAS com idade inferior a 20 anos e naqueles entre 20 e 40 anos, que sejam considerados de alto risco e, nesta mesma faixa etária ou acima de 40 anos, que näo tenham respondido ao TI. Transfusöes sangüineas prévias ao TMO interferem no seu sucesso, pois os pacientes com menos de 15 transfusöes apresentam uma sobrevida superior a 90 por cento e naqueles mais transfundidos, cai para 65 por cento. O TMO entre singênicos (gêmeos idênticos) exibe características próprias e a utilizaçäo de doadores näo aparentados é viável, porém, permanece em fase experimental. A Anemia de Fanconi (AF) é a mais comum aplasia de origem hereditária e pode ser totalmente corrigida pelo TMO. Devido à extrema sensibilidade dos pacientes a agentes alquilantes e à irradiaçäo, foi necessário desenvolver um regime de condicionamento específico para reduzir sua toxicidade e melhorar os resultados. A regeneraçäo hematológica completa, após TMO alogênico aparentado, ocorre em mais de 80 por cento dos pacientes. Ao contrário, os resultados com doadores näo aparentados säo pobres. Disceratose Congênita, Anemia de Blackfan-Diamond e Trombocitopenias Hereditárias säo outras formas de aplasias hereditárias passíveis de correçäo completa pelo TMO.

Alteracoes hematologicas ligadas ao alcoolismo / Hematological disorders related to alcoholism

O alcool produz varios efeitos na medula ossea, resultando em anemia, leucopenia e trombocitopenia. A ingestao cronica de etanol contribui para o aparecimento de disfuncoes plaquetarias e anemias carenciais, principalmente por deficiencias de folato...

Epidemiologia da anemia aplástica adquirida severa: em estudo caso-controle realizado no Brasil / Epidemiology ofAquired Aplastic Anemia: a control-case study in Brasil

A Anemia Aplástica Adquirida (AAA) é uma doença hematológica rara, de elevada letalidade. Existem poucos estudos epidemiológicos sobre AAA publicados até o momento, e seus resultados säo controversos. No Brasil, esta é a primeira pesquisa voltada a estudar os fatores de risco dessa doença. Dentre os possíveis fatores causais da AAA tem sido apontados: medicamentos, vírus, pesticidas e solventes. Os objetivos deste estudo foram: estimar o coeficiente de incidência da AAA no Estado do Paraná, descrever as características sociodemográficas dos pacientes com AAA e investigar as seguintes exposiçöes prévias: uso de determinados medicamentos; exposiçäo a pesticidas, radiaçäo, solventes e ocorrência de determinadas infecçöes virais. Foi realizado um estudo caso-controle. Foram selecionados os casos novos confirmados da doença atendidos no serviço de hematologia do Hospital de Clínicas de Curitiba. Para cada caso foram identificados dois controles comunitários e um controle hospitalar. Quando os resultados observados nos dois grupos controles foram diferentes, considerou-se como válido o observado nos controles hospitalares (exceto para medicamentos). Foram incluídos 125 casos, 260 controles comunitários e 129 hospitalares

Hepatitis C y alteraciones en la biometría hemática / Blood count changes in hepatitis C

Es bien conocido que los virus causantes de hepatitis son pantrópicos y lo mismo afectan el hígado, el intestino, el riñón y la médula ósea; inclusive, en diversas publicaciones se les señala como causante de anemia aplásica, y es relativamente común hallar alteraciones en la biometría Hématica (BH) de pacientes con hepatitis C. por ello se decidió realizar un estudio observacional, longitudinal, abierto, comparativo, retro y prospectivo con 19 pacientes portadores de hepatitis C en que se registraron al menos en dos ocasiones durante su evolución: hemoglobina, leucocitos y plaquetas, además de pruebas de funcionamiento hepático y otros estudios complementarios. A todos los parámetros se les calculó media, desviación estándar y el análisis estadístico se realizó mediante la t de Student. Los resultados muestran una disminución significativa en la cuenta plaquetaria (p=0.001) en ambas determinaciones del grupo problema cuando se compararon con el grupo control, y lo mismo con las cifras de hemoglobina a su ingreso (p= 0.02) pero no durante su evolución (p= 0.10); por lo contrario, no se detectó diferencia significativa en la cuenta leucocitaria. Solamente en seis pacientes se demostraron várices esofágicas grado III o IV y/o hiperesplenismo por lo que en los 13 restantes no hay razón alguna que explique los cambios en la BH y se concluye que sí existe una relación entre estas alteraciones y el virus de la hepatitis C