Asunto(s)
Servicio de Urgencia en Hospital , Pancitopenia , Humanos , Pancitopenia/etiología , Pancitopenia/diagnóstico , Niño , MasculinoRESUMEN
Abstract Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Given its nature, secondary causes of HLH should be sought, mainly infections, hemato-oncological disorders, autoimmune diseases, and auto-inflammatory conditions. Case report: We present the case of a female adolescent who presented with fever and lower gastrointestinal bleeding. Upon admission, acute liver failure and pancytopenia were documented. A bone marrow aspirate was performed, which revealed hemophagocytosis; other tests confirmed HLH diagnosis. During the diagnostic approach, inflammatory bowel disease was diagnosed. The patient received first-line treatment with an adequate response. Conclusions: Inflammatory bowel disease can be considered a cause of secondary HLH, particularly in patients with suggestive symptoms, such as digestive bleeding in the absence of other secondary causes of HLH.
Resumen Introducción: La linfohistiocitosis hemofagocítica (LHH) es considerada una urgencia médica que debe reconocerse en pacientes con deterioro progresivo del estado general, fiebre, pancitopenia y esplenomegalia. Los hallazgos de laboratorio incluyen citopenia, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia. Para su diagnóstico es importante, aunque no obligatoria, la realización de aspirado de médula ósea. Dada su naturaleza, se deben buscar causas secundarias de LHH, principalmente enfermedades infecciosas, hematooncológicas, autoinmunitarias y autoinflamatorias. Caso clínico: Se presenta el caso de una adolescente que inició con fiebre y sangrado digestivo bajo. A su ingreso, se documentó falla hepática aguda y pancitopenia. Se realizó aspirado de médula ósea y se encontró hemofagocitocis; el resto de los exámenes concluyeron LHH. Durante su abordaje se diagnosticó enfermedad inflamatoria intestinal. La paciente recibió tratamiento de primera línea con adecuada respuesta. Conclusiones: La enfermedad inflamatoria intestinal puede considerarse como una causa secundaria de LHH, en particular en pacientes con clínica sugestiva, como es el sangrado digestivo, en ausencia de otras causas secundarias de LHH.
Asunto(s)
Adolescente , Femenino , Humanos , Colitis Ulcerosa/complicaciones , Linfohistiocitosis Hemofagocítica/etiología , Pancitopenia/diagnóstico , Examen de la Médula Ósea , Enfermedades Inflamatorias del Intestino/complicaciones , Colitis Ulcerosa/diagnóstico , Colitis Ulcerosa/tratamiento farmacológico , Fallo Hepático Agudo/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/terapiaRESUMEN
Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Given its nature, secondary causes of HLH should be sought, mainly infections, hemato-oncological disorders, autoimmune diseases, and auto-inflammatory conditions. Case report: We present the case of a female adolescent who presented with fever and lower gastrointestinal bleeding. Upon admission, acute liver failure and pancytopenia were documented. A bone marrow aspirate was performed, which revealed hemophagocytosis; other tests confirmed HLH diagnosis. During the diagnostic approach, inflammatory bowel disease was diagnosed. The patient received first-line treatment with an adequate response. Conclusions: Inflammatory bowel disease can be considered a cause of secondary HLH, particularly in patients with suggestive symptoms, such as digestive bleeding in the absence of other secondary causes of HLH.
Introducción: La linfohistiocitosis hemofagocítica (LHH) es considerada una urgencia médica que debe reconocerse en pacientes con deterioro progresivo del estado general, fiebre, pancitopenia y esplenomegalia. Los hallazgos de laboratorio incluyen citopenia, hipertrigliceridemia, hipofibrinogenemia e hiperferritinemia. Para su diagnóstico es importante, aunque no obligatoria, la realización de aspirado de médula ósea. Dada su naturaleza, se deben buscar causas secundarias de LHH, principalmente enfermedades infecciosas, hematooncológicas, autoinmunitarias y autoinflamatorias. Caso clínico: Se presenta el caso de una adolescente que inició con fiebre y sangrado digestivo bajo. A su ingreso, se documentó falla hepática aguda y pancitopenia. Se realizó aspirado de médula ósea y se encontró hemofagocitocis; el resto de los exámenes concluyeron LHH. Durante su abordaje se diagnosticó enfermedad inflamatoria intestinal. La paciente recibió tratamiento de primera línea con adecuada respuesta. Conclusiones: La enfermedad inflamatoria intestinal puede considerarse como una causa secundaria de LHH, en particular en pacientes con clínica sugestiva, como es el sangrado digestivo, en ausencia de otras causas secundarias de LHH.
Asunto(s)
Colitis Ulcerosa/complicaciones , Linfohistiocitosis Hemofagocítica/etiología , Adolescente , Examen de la Médula Ósea , Colitis Ulcerosa/diagnóstico , Colitis Ulcerosa/tratamiento farmacológico , Femenino , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Fallo Hepático Agudo/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/terapia , Pancitopenia/diagnósticoRESUMEN
Os receptores de transplante renal são mais suscetíveis a infecções, entre elas o parvovírus B19, que pode ser transmitido por via respiratória, adquirido por meio do enxerto ou por reativação de infecção latente. A anemia normocítica normocrômica, com diminuição dos reticulócitos e resistência ao tratamento com eritropoietina, é a principal forma de apresentação da infecção por parvovírus B19 em transplante renal. O diagnóstico requer alto índice de suspeição clínica e realização de testes diagnósticos selecionados. Tratamento com imunoglobulina e suspensão dos imunossupressores durante a infecção mostraram-se eficazes. Os autores relatam sua experiência com cinco casos de infecção por parvovírus B19 em receptores de transplante renal de um hospital universitário. Os aspectos clínicos, diagnósticos e terapêuticos são revistos.
Kidney transplant recipients are more susceptible to infections, including by parvovirus B19, spread through the respiratory tract, acquired through the graft or reactivation of latent infection. Normocytic normochromic anemia, with decreased reticulocytes and resistance to erythropoietin treatment, is the most common presentation of Parvovirus B19 infection in renal transplant. Diagnosis requires a higher clinical suspicion and the performance of selected diagnostic tests. Treatment with immunoglobulin and suspension of immunosuppressive therapy during the infection may be effective. The authors report five cases of PB19 infection in kidney transplant patients at a hospital. The clinical, diagnostic, and treatment features are reviewed.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Trasplante de Riñón/estadística & datos numéricos , Parvovirus B19 Humano/aislamiento & purificación , Infecciones por Parvoviridae/epidemiología , Receptores de Trasplantes/estadística & datos numéricos , Pancitopenia/diagnóstico , Biopsia con Aguja , Médula Ósea/virología , Pruebas Serológicas , Mielografía , Reacción en Cadena de la Polimerasa , Inmunoglobulinas Intravenosas/uso terapéutico , Infecciones por Parvoviridae/diagnóstico , Infecciones por Parvoviridae/tratamiento farmacológico , Infecciones por Parvoviridae/sangre , Diagnóstico Diferencial , Factores Inmunológicos/uso terapéutico , Inmunosupresores/uso terapéutico , Anemia/diagnósticoRESUMEN
El tratamiento de pacientes con artritis reumatoide (AR) debe ser temprano y agresivo para prevenir el daño articular y la discapacidad. Los fármacos no biológicos modificadoes de enfermedad, como el metotrexato, han sido utilizados par controlar la actividad de la enfermedad y para prevenir el daño de las articulaciones. Existen pacientes con AR resistentes al tratamiento con fármacos modificadores de la enfermedad y otros que no responden adecuadamente a la terapia con inhibidores de factores de necrosis tumoral. Nosotros describimos el caso de una paciente de sexo femenino de 77 años que se presentó al servicio de emergencias con fiebre, mucositis y mal estado general luego de recibir una dosis de abatacept. A su ingreso el laboratorio demostró: glóbulos blancos 500 cel/mm3, neutrófilos 150 cel/mm3, plaquetas 21000 cel/mm3, hematocrito 29%, VCM 81, LDH 314 UI/L, función renal y hepatograma normales. En el examen clínico se objetivaron ulceras y lesiones ampollares en mucosa yugal. El medulograma evidenció hipocelularidad, con disminución de las tres series. El informe anatomopatológico fue de médula ósea hipoplásica. Recibió tratamiento con factor estimulante de colonias de neutrófilos, ácido fólico y metilprednisona, con resolución del cuadro a los 3 días de instituido el tratamiento. Hasta nuestro conocimiento esta es la primera comunicación de pancitopenia asociada a abatacept es una paciente con artritis AR intolerante a metotrexato
Treatment of patient with rheumatoid arthritis (RA) should be early and aggressive to prevent joint injury and disability. Disease-modifying antirheumatic drugs (DMARDs) like methotrexate has been used as initial treatment toward the disease activity and to prevento joint damage. Some patients with RA are resistant to initial therapy with nonbiiologic DMARDs or TNF inhibitiors. We described a 77 years old women who presented to the emergency room with fever andoral lesions after been treated with abatacept. On examination patient appeared ill. She had oral ulcers. laboratory testing showed white cells count 500 cells per mm3, hematocrit 29 %, platelets count 21000 cells per mm3, LDH 314 U/l. Renal and liver functions were normal. Bone marrow showed decreased in the three cells lineages. Patient was treated with granulocyte colony-stimulating factor, folic acid, and prednisone. Patient improved her physical and laboratory features three days after admission. This case showed the rare association between pancytopenia and abatacept in a patient with RA
Asunto(s)
Humanos , Femenino , Anciano , Pancitopenia/diagnóstico , Artritis Reumatoide/terapia , Metotrexato/efectos adversos , Metotrexato/uso terapéutico , Abatacept/uso terapéuticoRESUMEN
Objetivo: Discriminar as variáveis de sexo e idade nos pacientes com anemia perniciosa; estudar seu perfil hematimétrico; verificar a prevalência de outras doenças autoimunes e anemia perniciosa; analisar a incidência da pancitopenia e sua relação com alterações laboratoriais comum na doença; e avaliar a frequência dos autoanticorpos anticélulas parietais e antifator intrínseco. Métodos: Estudo transversal descritivo, de base clínica e laboratorial, de 33 prontuários de pacientes com anemia perniciosa, diagnosticados em um ambulatório de hospital terciário de atenção à saúde, no período de junho de 2009 a junho de 2014. Para analisar a relação da presença e da ausência de pancitopenia com os níveis da enzima lactato desidrogenase e vitamina B12, foi utilizado o teste qui quadrado. O programa utilizado foi o software Epi Info, versão 7. Resultados: Na amostra, 63,6% eram mulheres, e a idade média geral foi de 47,3 anos. Doenças autoimunes estavam associadas em 30,3% dos pacientes. A pancitopenia esteve presente em 39,4% dos pacientes. Houve significância estatística na relação da pancitopenia com os níveis de enzima lactato desidrogenase (p<0,05). A prevalência do antifator intrínseco foi de 69,7% e dos autoanticorpos anticélulas parietais foi de 72,7%. Conclusão: A pancitopenia mostrou-se um achado significante na população com anemia perniciosa, assim como níveis elevado de LDH, acrescentando a anemia perniciosa como um diagnóstico diferencial de tais alterações laboratoriais.(AU)
Objective: To discriminate the gender and age variables in patients with pernicious anemia; to study erythrocyte profile; to check the prevalence of other autoimmune diseases and pernicious anemia; to analyze the incidence of pancytopenia and its relationship with common laboratory abnormalities in the disease; to evaluate the frequency of anti-gastric parietal cell antibodies, and anti-intrinsic factor antibodies. Methods: Descriptive, cross-sectional study of clinical and laboratorybased medical records of 33 patients with pernicious anemia diagnosed in an outpatient's department of a tertiary healthcare center, in the period between June 2009 and June 2014. To analyze the relationship between the presence and absence of pancytopenia with levels of lactate dehydrogenase enzyme and levels of Vitamin B12 we used the chi-squared test. The software used was Epininfo version 7. Results: The sample showed 63.6% women and 36.4% men with a mean age of 47.3 years. Autoimmune diseases were associated in 30.3% of the patients. Pancytopenia was present in 39.4% of patients. There was statistically significant relationship of pancytopenia with lactate dehydrogenase enzyme levels (p <0.05). The frequency of anti-intrinsic factor antibodies was 69.7%, and the antigastric parietal cell antibodies was 72.7%. Conclusion: Pancytopenia proved to be a significant finding among the population with pernicious anemia and high levels of LDH, which includes pernicious anemia as a differential diagnosis of such laboratory alterations.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Pancitopenia/complicaciones , Pancitopenia/diagnóstico , Enfermedades Autoinmunes/epidemiología , Vitamina B 12/sangre , Anemia Perniciosa/complicaciones , Anemia Perniciosa/diagnóstico , L-Lactato Deshidrogenasa , Enfermedades Autoinmunes/complicaciones , Diagnóstico Diferencial , AnticuerposRESUMEN
No Brasil, enfermidades infectocontagiosas são as mais prevalentes na casuística de caninos domésticos, sendo a erliquiose monocítica canina, causada pela bactéria Ehrlichia canis, uma das mais graves. Entre os sintomas da doença, os mais descritos pela literatura são: letargia, anorexia, epistaxe, hemorragias, anemia e trombocitopenia. Estudos recentes, contudo, indicam que a doença também está associada a diversos sintomas relacionados a lesões cardíacas. O presente trabalho avaliou cães comprovadamente infectados pela E. canis com o emprego do eletrocardiograma antes e após o tratamento padrão com doxiciclina (10mg/kg), visando identificar alterações típicas causadas pela doença.
The contagious diseases are the most prevalent in Brazilian domestic canines, and one of the most severe is the monocytic ehrlichiosis, caused by Ehrlichia canis bacteria. Among the symptoms of the disease, the most prevalent are apathy, anorexia, epistaxis, hemorrhage, anemia, and thrombocytopenia. However, recent studies indicate association between the disease and diverse symptoms related to cardiac injuries. This article evaluated dogs undoubtedly infected by E. canis through electrocardiogram applied before and after the standard treatment with doxycycline (10mg/kg), aiming to identify typical variations caused by the disease.
Asunto(s)
Animales , Perros , Perros/anomalías , Electrocardiografía , Electrocardiografía/clasificación , Electrocardiografía/veterinaria , Pancitopenia/diagnóstico , Ehrlichia canisRESUMEN
No Brasil, enfermidades infectocontagiosas são as mais prevalentes na casuística de caninos domésticos, sendo a erliquiose monocítica canina, causada pela bactéria Ehrlichia canis, uma das mais graves. Entre os sintomas da doença, os mais descritos pela literatura são: letargia, anorexia, epistaxe, hemorragias, anemia e trombocitopenia. Estudos recentes, contudo, indicam que a doença também está associada a diversos sintomas relacionados a lesões cardíacas. O presente trabalho avaliou cães comprovadamente infectados pela E. canis com o emprego do eletrocardiograma antes e após o tratamento padrão com doxiciclina (10mg/kg), visando identificar alterações típicas causadas pela doença.(AU)
The contagious diseases are the most prevalent in Brazilian domestic canines, and one of the most severe is the monocytic ehrlichiosis, caused by Ehrlichia canis bacteria. Among the symptoms of the disease, the most prevalent are apathy, anorexia, epistaxis, hemorrhage, anemia, and thrombocytopenia. However, recent studies indicate association between the disease and diverse symptoms related to cardiac injuries. This article evaluated dogs undoubtedly infected by E. canis through electrocardiogram applied before and after the standard treatment with doxycycline (10mg/kg), aiming to identify typical variations caused by the disease.(AU)
Asunto(s)
Animales , Perros , Electrocardiografía/clasificación , Electrocardiografía , Electrocardiografía/veterinaria , Perros/anomalías , Pancitopenia/diagnóstico , Ehrlichia canisRESUMEN
Introduction and aim. Non-cirrhotic idiopathic portal hypertension (NCIPH), also known as hepatoportal sclerosis (HPS) is a disease of uncertain etiology. However, various pathophysiological mechanisms has been postulated, including chronic or recurrent infections and exposure to drugs or toxins. In this context, it appears to be of multifactorial etiology or resulting from a portal vascular endothelium aggression. It is important to consider whether the use of dietary supplements and herbs can trigger or contribute to the occurance of HPS. We report a possible association of HPS with the consumption of herbals and / or dietary supplements. MATERIAL AND METHODS: We describe two cases of HPS in patients without known etiology causes associated with this disease. RESULTS: Both patients were females who were diagnosed with HPS following the consumption of Herbalife® products and putative anorexigenic agents in the form herbals infusions. Image-based analysis and the assessment of the histopathological alterations found in the livers confirmed the diagnosis. The histopatological analysis of liver samples from both patients showed portal tracts enlarged by fibrosis with disappearance or reduction in the diameter of the portal vein branches. In many portal tracts, portal veins branches were replaced by aberrant thin-walled fendiforme vessels. The bile ducts and branches of the hepatic artery show normal aspects. CONCLUSION: After the exclusion of other etiologic factors and a comprehensive analysis of clinical history, consumption of Herbalife® products and anorexigenic agents was pointed-out as a puttative predisposing factor for the development of the disease.
Asunto(s)
Depresores del Apetito/efectos adversos , Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Hipertensión Portal/inducido químicamente , Cirrosis Hepática/inducido químicamente , Hígado/efectos de los fármacos , Pancitopenia/inducido químicamente , Preparaciones de Plantas/efectos adversos , Vena Porta/efectos de los fármacos , Esplenomegalia/inducido químicamente , Adulto , Biopsia , Enfermedad Hepática Inducida por Sustancias y Drogas/diagnóstico , Enfermedad Hepática Inducida por Sustancias y Drogas/patología , Femenino , Humanos , Hipertensión Portal/diagnóstico , Hipertensión Portal/patología , Hígado/irrigación sanguínea , Hígado/patología , Cirrosis Hepática/diagnóstico , Cirrosis Hepática/patología , Persona de Mediana Edad , Pancitopenia/diagnóstico , Pancitopenia/patología , Vena Porta/patología , Valor Predictivo de las Pruebas , Factores de Riesgo , Esclerosis , Esplenomegalia/diagnóstico , Esplenomegalia/patología , Hipertensión Portal Idiopática no CirróticaRESUMEN
BACKGROUND: Visceral leishmaniasis is a zoonosis characterized by chronic evolution of symptoms; it usually appears 2 to 4 months after the initial infection, with multiple cutaneous lesions and systemic involvement, which if left untreated results in death in 90 % of cases. CASE PRESENTATION: We present a case of 29-year-old white male farmer, with chronic myeloid leukemia treated with imatinib who developed significant pancytopenia, leading to discontinuation of treatment. His neutrophil count fell to 0.5 × 10(9)/L, his platelets dropped to 85 × 10(9)/µL, and his hemoglobin was 6.4 g/dL. A bone marrow study was performed, showing complete remission of chronic myeloid leukemia and numerous Leishmania amastigotes within the macrophages. He used pentavalent antimonials replaced by amphotericin B due to acute cardiac toxicity. After 3 months, imatinib was restarted, and he again showed adequate control of the disease. The last polymerase chain reaction assessment showed a deep molecular response. CONCLUSION: The hypothesis of an adverse event or secondary resistance to tyrosine kinase inhibitors, with subsequent progression to advanced disease, was initially raised, although a detailed evaluation has shown that it was an associated infectious disease.
Asunto(s)
Mesilato de Imatinib/uso terapéutico , Leishmaniasis Visceral/complicaciones , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Pancitopenia/complicaciones , Inhibidores de Proteínas Quinasas/uso terapéutico , Adulto , Humanos , Mesilato de Imatinib/efectos adversos , Masculino , Pancitopenia/diagnósticoRESUMEN
Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.
A síndrome de Revesz é uma rara variante de disceratose congênita caracterizada por retinopatia exsudativa bilateral, alterações no segmento anterior ocular, retardo do crescimento intrauterino, pilificação fina e escassa, pigmentação cutânea reticular, falência da medula óssea, calcificações cerebrais, hipoplasia cerebelar e retardo neuropsicomotor. Há variações clínicas significativas entre os poucos relatos desta patologia existentes na literatura. Descrevemos o primeiro caso brasileiro de síndrome Revesz e suas características clínicas e oculares.
Asunto(s)
Humanos , Femenino , Lactante , Disqueratosis Congénita/diagnóstico , Estrabismo/diagnóstico , Pancitopenia/diagnóstico , Desprendimiento de Retina , Hemorragia Vítrea , SíndromeAsunto(s)
Osteopetrosis/diagnóstico , Densidad Ósea , Femenino , Trasplante de Células Madre Hematopoyéticas , Humanos , Lactante , Hígado/anomalías , Mutación , Osteoclastos/metabolismo , Osteoclastos/patología , Osteopetrosis/diagnóstico por imagen , Osteosclerosis/diagnóstico , Osteosclerosis/diagnóstico por imagen , Pancitopenia/diagnóstico , Radiografía , Raquitismo/diagnóstico , Raquitismo/diagnóstico por imagen , Esplenomegalia/diagnóstico , Resultado del Tratamiento , ATPasas de Translocación de Protón Vacuolares/genéticaRESUMEN
Aplastic anemia following viral hepatitis is a condition well recognized in the medical literature. Although hepatitis-associated aplastic anemia is an uncommon syndrome, there are several reports in the literature describing such cases. In these reports, aplastic anemia generally occurs following a viral infection, including parvovirus B19, but may also be idiopathic. The etiology of both the hepatic injury and the bone marrow failure is speculated to be immune-mediated. We report a patient who suffered acute idiopathic hepatitis and severe pancytopenia fourteen years after a similar episode in childhood. This is only the second case report of acute hepatitis in association with bone marrow failure and aplastic anemia in childhood with sudden recurrence many years later in adulthood.
Asunto(s)
Anemia Aplásica/diagnóstico , Anemia Aplásica/etiología , Hepatitis/complicaciones , Hepatitis/diagnóstico , Pancitopenia/diagnóstico , Pancitopenia/etiología , Adulto , Anemia Aplásica/tratamiento farmacológico , Suero Antilinfocítico/uso terapéutico , Biopsia , Ciclosporina/uso terapéutico , Humanos , Inmunosupresores/uso terapéutico , Hígado/patología , Masculino , Pancitopenia/tratamiento farmacológico , Recurrencia , Factores de Riesgo , Factores de Tiempo , Resultado del TratamientoRESUMEN
Nesta revisäo, säo discutidos os princípios do diagnóstico e tratamento das principais complicaçöes agudas, näo infecciosas, do transplante de células progenitoras hematopoéticas: pancitopenia, incompatibilidade no sistema ABO, mucosite, doença veno-oclusiva hepática, cistite hemorrágica, penumonite intersticial, cardiotoxicidade e doença do enxerto-contra-hospedeiro aguda. Oito casos clínicos, extraídos da casuística da nossa Unidade de TMO, säo descritos brevemente para ilustrar aspectos particulares das doenças discutidas no trabalho.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Adolescente , Trasplante de Médula Ósea , Enfermedad Injerto contra Huésped/complicaciones , Células Madre Hematopoyéticas , Enfermedad Injerto contra Huésped/fisiopatología , Pancitopenia/diagnóstico , Pancitopenia/terapia , Trasplante de Médula Ósea/mortalidadRESUMEN
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.
Asunto(s)
Ataxia Cerebelosa/patología , Pancitopenia/patología , Adulto , Ataxia Telangiectasia/diagnóstico , Ataxia Cerebelosa/diagnóstico , Ataxia Cerebelosa/genética , Diagnóstico Diferencial , Anemia de Fanconi/diagnóstico , Femenino , Humanos , Cariotipificación , Pancitopenia/diagnóstico , Pancitopenia/genética , SíndromeRESUMEN
Se presenta el caso de un paciente con anemia de Fanconi quien a pesa de tener datos clínicos característicos del padecimiento, no fue diagnosticado sino hasta la edad de 30 años, y sólo posteriormente al establecimiento de aplasia medular. Además de la aplasia medular y de algunos defectos característicos tales como hipoplasia de los pulgares, el paciente presentaba diabetes mellitus e hipogonadismo, que parecen ser complicaciones poco frecuentes de esta enfermedad, aunque relacionadas con ellas. El propósito de este trabajo es describir el caso y mostrar los criterios de diagnósticos clínico y de laboratorio, haciendo énfasis en los estudios citogenéticos
Asunto(s)
Humanos , Masculino , Adulto , Pancitopenia/diagnóstico , Fenotipo , Diabetes Mellitus/complicaciones , Anemia de Fanconi/diagnóstico , Hipogonadismo , Diagnóstico Diferencial , Anomalías Congénitas , Citogenética/métodos , Médula Ósea/anomalíasRESUMEN
El síndrome de pancitopenia periférica tiene gran interés en clínica pediátrica ya que frecuentemente señala una afección grave de los tejidos sanguíneos, la cual debe ser diagnosticada y tratada oportunamente. Etiopatogenia. Se comentan 6 grupos de padecimientos que pueden cursar con pancitopenia periférica; se describen brevemente sus características clínicas y fisiopatológicas principales. Conclusiones. El pronóstico de los pacientes con pancitopenia periférica pueden mejorarse si se diagnóstica temprana y se instala el tratamiento adecuado para la enfermedad primaria