Hepatoesplenomegalia relacionada a linfoma de Burkitt en paciente pediátrico / Hepatoesplenomegalia related to Burkitt´s lymphoma in a pediatric patient

RESUMEN El linfoma de Burkitt, se trata de un subtipo poco frecuente del linfoma no Hodgkin, con elevada frecuencia en aquellos pacientes con sida. La hepatoesplenomegalia es un signo clínico de gran importancia para el diagnóstico oportuno de algunas patologías; entre los mecanismos de formación de la hepatoesplenomegalia se encuentra la infiltración celular, ocasionada por la migración de células tumorales. Se presenta por inflamaciones debido a la presencia de infecciones por virus o bacterias las cuales son muy comunes en pacientes con sida. Se presentó un caso de un paciente masculino de 4 años, diagnosticado con VIH positivo, con la configuración correspondiente de criterios clínicos en clasificación C para sida. El cual desarrolló a nivel de cavidad oral un Burkitt primario, que se acompañó de hepatoesplenomegalia. Se pretendió describir la relación y el comportamiento de este tipo de linfoma con la hepatoesplenomegalia, así como la repercusión a nivel del sistema estomatognático, a nivel sistémico y el plan de tratamiento. Por el cuadro clínico e inmunológico del paciente estudiado, se planteó un pronóstico reservado por presentar un cuadro clínico infrecuente, en el que se observó Burkitt; tanto a nivel del sistema estomatognático como a nivel abdominal. Se hizo necesario realizar un diagnóstico oportuno y certero para iniciar el tratamiento a tiempo, se comenzó inmediatamente con tratamiento (AU).

ABSTRACT Burkitt lymphoma (BL) is a rare subtype of non-Hodgkin lymphoma, with high frequency in those patients with AIDS. Hepatosplenomegaly is a clinical sign of great importance for the timely diagnosis of some pathologies; cellular infiltration is found among the mechanisms of hepatosplenomegaly formation; it is caused by the migration of tumor cells. It emerges by inflammations due to the presence of infections by virus or bacteria which are very common in patients with AIDS. The authors present the case of a male patient, aged 4 years, with a positive HIV diagnosis, and the correspondent configuration of clinical criteria in C classification for AIDS, who developed a primary Burkitt lymphoma at the level of oral cavity We present the case of a 4-year-old male patient diagnosed with HIV positive, with the corresponding configuration of clinical criteria in classification C for AIDS; who developed a primary LB at the oral cavity level that was accompanied by hepatosplenomegaly. The authors pretended to describe the relation and behavior of this kind of lymphoma with hepatosplenomegaly, and also the repercussion at the stomatognathic level, at the systemic level and the treatment plan. Due to the clinical and immunological characteristics of the studied patient a reserved prognosis was given because of presenting infrequent clinical characteristics in which a Burkitt was observed both, at the stomatognathic and at the abdominal level. It was necessary to make an opportune and accurate diagnosis to begin the treatment on time (AU).

A leishmaniose visceral ainda deve ser lembrada no diagnóstico diferencial de hepatoesplenomegalia febril? Revisão bibliográfica e relato de caso / Should visceral leishmaniasis still be remembered in the differential diagnosis of febrile hepatosplenomegaly? Literature review and case report

Apesar de não haver caso autóctone na Região Sudeste, a leishmaniose visceral é encontrada em pacientes que migram de regiões endêmicas. Como é uma doença que, se não reconhecida e conduzida adequadamente, apresenta alta mortalidade, realizamos uma revisão bibliográfica e destacamos, com o relato deste caso, a importância de a incluirmos no diagnóstico diferencial de hepatoesplenomegalia febril ainda na avaliação clínica inicial, pois o retardo no diagnóstico piora o prognóstico e a sobrevida do paciente, sendo sumária a introdução de terapêutica apropriada o mais breve possível.(AU)

Although there is no autochthonous case finding in the Southeast Region, visceral leishmaniasis is found in patients migrating from endemic areas. Because it is a disease that, if not properly recognized and treated, presents high mortality, we performed a bibliographic review and highlight, with the report of this case, the importance of including it in the differential diagnosis of febrile hepatosplenomegaly in the initial clinical evaluation. The late diagnosis worsens the patient's prognosis and survival, and the introduction of appropriate therapeutics should be made as soon as possible.(AU)

Linfoma no Hodgkin folicular primario del bazo / Follicular Non-Hodgkin Primary Splenic Lymphoma

Se presenta el caso de una paciente de 79 años que desde hace 3 meses presenta marcada sudoración nocturna, dolor abdominal en zona de hipocondrio y flanco izquierdo y ligera pérdida de peso. Al examen físico se observa palidez de piel y mucosas, esplenomegalia que rebasa 7 cm el reborde costal izquierdo, superficie lisa, superficie regular. El resto del examen físico fue normal. Se realizan múltiples investigaciones básicas sin poderse identificar el diagnostico. Por la presencia de gran esplenomegalia y la pancitopenia se decide realizar esplenectomía confirmándose un linfoma no Hogkin folicular primario del bazo(AU)

We present the case of a 79-year-old patient who had marked night sweats, abdominal pain in the hypochondrium area and left flank and slight weight loss for 3 months. Physical examination showed pale skin and mucous membranes, splenomegaly that exceeds the left costal margin by 7 cm, smooth surface, and regular surface. The rest of the physical examination was normal. Multiple basic studies were conducted out but the diagnosis was not identified. Due to the presence of great splenomegaly and pancytopenia, it was decided to perform splenectomy, confirming a follicular non-Hodgkin primary splenic lymphoma(AU)

Acute Toxic Hepatitis Caused by an Aloe Vera Preparation in a Young Patient: A Case Report with a Literature Review / 대한소화기학회지

Aloe is one of the leading products used in phytomedicine. Several cases of aloe-induced toxic hepatitis have been reported in recent years. However, its toxicology has not yet been systematically described in the literature. A 21-year-old female patient was admitted to our hospital with acute hepatitis after taking an aloe vera preparation for four weeks. Her history, clinical manifestation, laboratory findings, and histological findings all led to the diagnosis of aloe vera-induced toxic hepatitis. We report herein on a case of acute toxic hepatitis induced by aloe vera.

Langerhans Cell Sarcoma in Two Young Children: Imaging Findings on Initial Presentation and Recurrence

Langerhans cell sarcoma (LCS) is a neoplastic proliferation of Langerhans cells with malignant cytological features and multi-organ involvement that typically has a poor prognosis. We experienced 2 cases of LCS in children less than 2 years of age and report them based primarily on CT and MR findings. Both children had findings of hepatosplenomegaly with low-attenuation nodular lesions, had multiple lymphadenopathy, and had shown recurrent lesions invading the skull during follow-up after chemotherapy.

Two Cases of Myeloproliferative Neoplasm with a Concurrent JAK2V617F Mutation and BCR/ABL Translocation without Chronic Myelogenous Leukemia Phenotype Acquisition during Hydroxyurea Treatment

No abstract available.

A Case of Liver Fibrosis with Splenomegaly after Oxaliplatin-Based Adjuvant Chemotherapy for Colon Cancer

Previous studies reported that oxaliplatin is associated with sinusoidal obstruction syndrome. However few reports on oxaliplatin induced liver fibrosis are found in the literature. Furthermore pathogenesis of liver fibrosis is not well known. We report a case of 45-yr-old Korean man in whom liver fibrosis with splenomegaly developed after 12 cycles of oxaliplatin based adjuvant chemotherapy for colon cancer (T4N2M0). Thorough history taking and serological examination revealed no evidence of chronic liver disease. Restaging CT scans demonstrated a good response to chemotherapy. Five month after chemotherapy, he underwent right hepatectomy due to isolated metastatic lesion. The liver parenchyma showed diffuse sinusoidal dilatation and centrilobular vein fibrosis with necrosis without steatosis. We could conclude that splenomegaly was due to perisinusoidal liver fibrosis and liver cell necrosis induced portal hypertension by oxaliplatin. In addition, to investigate the pathogenesis of liver fibrosis, immunohistochemical stains such as CD31 and alpha-smooth muscle actin (alpha-SMA) were conducted with control group. The immunohistochemical stains for CD31 and alpha-SMA were positive along the sinusoidal space in the patient, while negative in the control group. Chemotherapy with oxaliplatin induces liver fibrosis which should be kept in mind as a serious complication.

Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes / La anemia de células falciformes homocigóticas en Uganda y Jamaica comparación de haplotipos Bantú y Benin

OBJECTIVE: To compare the haematological and clinical features of homozygous sickle cell (SS) disease in Bantu and Benin haplotypes in a cross-sectional study of 115 Ugandan patients attending the Sickle Cell Clinic at Mulago Hospital, Kampala, Uganda, with 311 patients in the Jamaican Cohort Study. METHODS: This involved comparison of clinical features and haematology with special reference to genetic determinants of severity including fetal haemoglobin levels, beta-globin haplotype and alpha thalassaemia status. RESULTS: The Bantu haplotype accounted for 94% of HbS chromosomes in Ugandan patients and the Benin haplotype for 76% of HbS chromosomes in Jamaica. Ugandan patients were marginally more likely to have alpha thalassaemia, had similar total haemoglobin and fetal haemoglobin levels but had higher reticulocyte counts and total bilirubin levels consistent with greater haemolysis. Ugandan patients had less leg ulceration and priapism, but the mode of clinical presentation, prevalence of dactylitis, features of bone pain and degree of delay in sexual development, assessed by menarche, were similar in the groups. In Ugandan patients, a history of anaemic episodes was common but these were poorly documented. CONCLUSION: The haematological and clinical features of the Bantu haplotype in Uganda were broadly similar to the Benin haplotype in Jamaica except for less leg ulceration and priapism and possibly greater haemolysis among Ugandan subjects. Anaemic episodes in Uganda were treated empirically by transfusion often without a clear diagnosis; better documentation including reticulocyte counts and observations on spleen size is necessary to evolve appropriate models of care.

OBJETIVO: Comparar los rasgos clínicos de la anemia de células falciformes homocigóticas (SS) en los haplotipos Bantú y Benin en un estudio transversal de 115 pacientes ugandeses que asisten a la Clínica de la anemia de células falciformes en el Hospital de Mulago, Kampala, Uganda, con 311 pacientes en un estudio de cohorte jamaicano. MÉTODOS: El estudio conllevó la comparación de los rasgos clínicos y hematológicos con referencia especial a los determinantes genéticos de la severidad, incluyendo los niveles de la hemoglobina fetal, haplotipos del gen de la globina beta, y el estado de la alfa talasemia. RESULTADOS: El haplotipo Bantú dio cuenta del 94% de los cromosomas HbS en los pacientes ugandeses, en tanto que los haplotipos Benin dieron cuenta del 76% de los cromosomas de HbS en Jamaica. Los pacientes de Uganda presentaron una probabilidad marginalmente mayor de alfa talasemia, tenían niveles similares de hemoglobina total y hemoglobina fetal, pero en cambio presentaban conteos más altos de reticulocitos así como niveles mayores de bilirrubina total, en correspondencia con una mayor hemólisis. Los pacientes ugandeses presentaban menor ulceración de las piernas y priapismo, pero el modo de presentación clínica, la prevalencia de dactilitis, los rasgos de dolor óseo, y el grado de retraso en el desarrollo sexual, evaluado por la menarquia, fueron similares en todos los grupos. Los pacientes de Uganda se caracterizaron comúnmente por una historia de episodios de anemia, pobremente documentados. CONCLUSIÓN: Los rasgos clínicos y hematológicos del haplotipo Bantú en Uganda fueron considerablemente similares al haplotipo Benin en Jamaica, salvo por una menor presencia de ulceración de las piernas y priapismo, así como posiblemente mayor hemólisis entre los sujetos de Uganda. Los episodios de anemia en Uganda fueron tratados empíricamente mediante transfusión, a menudo sin un diagnóstico claro. Se necesita una mejor documentación - incluyendo conteos de reticulocitos - así como observaciones del tamaño del bazo, a fin de desarrollar modelos de cuidado apropiados.

Preditores não invasivos de varizes esofágicas em crianças e adolescentes com hepatopatia crônica ou obstrução extra-hepática da veia porta / Non-invasive predictors of esophageous varices in children and adolescents with chronic liver disease or extrahepatic portal venous obstruction

OBJETIVO: Identificar preditores não invasivos de varizes esofágicas em crianças e adolescentes com hepatopatia crônica ou obstrução extra-hepática da veia porta. PACIENTES E MÉTODOS: Estudo transversal que incluiu 53 crianças e adolescentes com hepatopatia crônica ou obstrução extra-hepática da veia porta, sem antecedente de hemorragia digestiva ou tratamento de varizes esofágicas, com até 20 anos de idade. Dois grupos foram formados: grupo I (35 pacientes com hepatopatia crônica) e grupo II (18 com obstrução extra-hepática da veia porta). Foram realizados hemograma, razão normalizada internacional, albumina, bilirrubina total, ultrassonografia de abdome e endoscopia digestiva alta. O índice esplênico foi determinado dividindo a dimensão esplênica pelo valor do limite superior da normalidade. As variáveis foram comparadas quanto à presença ou não de varizes esofágicas através de análise univariada (testes qui-quadrado, exato de Fischer e de Wilcoxon) e multivariada (regressão logística). A acurácia foi determinada a partir da área sob a curva ROC. RESULTADOS: As varizes esofágicas foram observadas em 48,5% dos pacientes do grupo I e em 83,3% do grupo II. Plaquetopenia (p = 0,0015), esplenomegalia (p = 0,0003) e a razão plaquetas/índice esplênico (p = 0,0007) se mostraram indicadores preditivos de varizes esofágicas entre os pacientes do grupo I. Após análise multivariada, a plaquetopenia (odds ratio = 21,7) se manteve como um indicador independente da presença de varizes esofágicas entre os pacientes com hepatopatia crônica. CONCLUSÃO: O número de plaquetas, o índice esplênico e a razão plaquetas/índice esplênico se mostraram preditivos de varizes esofágicas em crianças e adolescentes com hepatopatia crônica. Não foram encontrados preditores de varizes esofágicas entre os pacientes com obstrução extra-hepática da veia porta.

OBJECTIVE: To identify non-invasive predictors of esophageal varices in children and adolescents with chronic liver disease or extrahepatic portal venous obstruction (EHPVO). METHODS: 53 patients younger than 20 years with chronic liver disease or EHPVO and no history of bleeding or prophylactic treatment of esophageal varices (EV) were assessed. They were divided into 2 groups: group I (35 with chronic liver disease) and group II (18 with EHPVO). Their blood count, international normalized ratio (INR), albumin, bilirubin, abdominal ultrasonography and upper endoscopy results were taken. A splenic index was determined by dividing the patients' spleen dimension by its uppermost limit according to their age. The variables were compared to EV presence or not. Univariate (chi-square test, Fischer's exact test and Wilcoxon exact test) and multivariate (logistic regression) analyses were performed. A receiver operating characteristic (ROC) curve was constructed and the area under the ROC curve was calculated. RESULTS: EV were observed in 48.5% of group I patients and in 83.3% of group II patients. Low platelet count (p = 0.0015), splenomegaly (p = 0.0003) and splenic index (p = 0.0007) were statistically significant predictors of EV among group I patients. The multivariate analysis showed low platelet count (odds = 21.7) as an independent predictor of EV in patients with chronic liver disease. CONCLUSION: Platelet count, splenic index and platelet-splenic index ratio were predictors of EV in children and adolescents with chronic liver disease. There were no EV predictors among group II patients.

JAK2-positive Philadelphia-negative myeloproliferative neoplasms.

The recent discovery of the JAK2 mutations has rekindled interest in the approach to classic BCR/ABL-negative myeloproliferative neoplasms (MPNs) in terms of both diagnostic evaluation and treatment. However, additional clinical, laboratory and histological parameters play a key role to allow diagnosis and subclassification, regardless of whether JAK2 V617F mutation is present or not. Here are two cases which incidentally presented with splenomegaly and moderate leukocytosis, and were diagnosed as MPN-primary myelofibrosis (PMF) in prefibrotic phase and polycythemia vera (PV), respectively, using revised World Health Organization (WHO) 2008 criteria.

Malformación de abernethy tipo 1: presentación de un caso clínico y revisión de la literatura / Type-1 abernethy malformation: a clinic case presentation and review of literature

Se presenta caso de preescolar masculino de 5 años con antecedente de hepatoesplenomegalia desde el año de vida, quien consultó con clínica de hematuria, se realizó ecografía abdominal con hallazgos: de imágenes hipoecoicas difusas en el parénquima hepático, dificultad para valorar el sistema porta, esplenomegalia. Eco Doppler del sistema venoso portal presencia de anomalía vascular portal, no se observo porta principal, se realizó Angiotac multicorte del sistema arterial venoso portal y mesenterico que confirmo Agenesia de la vena Porta. Se diagnóstico malformación de Abernethy tipo I. Las malformaciones del sistema venoso abdominal son alteraciones vasculares raras. El primer acontecimiento de la ausencia congénita de la vena porta viene dado por un shunt cava mesenterico, los shunts portocava (SPC), son malformaciones infrecuentes descritas por Abernethy en 1973, se clasifican en dos grupos según la presencia tipo (II) o ausencia de la vena porta tipo (I). La malformación de Abernethy tipo I usualmente se relaciona a otras anomalías congénitas tales como: defectos cardiacos, atresia de vías biliares y poliesplenia, más frecuentes en el sexo femenino; en varones puede no encontrarse anomalías congénitas asociadas...

A 5-year old preschool male case is presented, with antecedent hepatosplenomegaly since one year old, who attended clinic consult with haematuria; abdominal echography was performed with the following findings: diffuse hypoecoic images on liver parenchyma, difficulties to assess the portal system, splenomegaly. Echo-Doppler of portal vein system evidenced the presence of portal vascular abnormality, no main portal vein was observed. A Multislice CT Angiography of the mesenteric and portal arterial-venous system was performed, which confirmed portal vein agenesis. Type-I Abernethy Malformation was diagnosed. The abdominal venous system’s malformations are rare vascular disturbances. The first event expressed by the portal vein congenital absence is evidenced by a caval-mesenteric shunt. Porta-Caval Shunt (PC-Shunts) are uncommon malformations described by Abernethy in 1973 that are classified into two groups as per the presence -Type II- or the absence -Type I- of portal vein. Type-I Abernethy Malformation is usually connected with other congenital abnormalities such as: heart defects, biliary tract atresia, and polysplenia, which are more frequent in females. Associated congenital abnormalities could not be found in males...

A case of concomitant Gilbert's syndrome and hereditary spherocytosis / 대한간학회지

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.

Pseudoquiste esplénico gigante / Giant splenic pseudocyst

Se reportó una paciente asintomática a la que incidentalmente se le descubrió la presencia de esplenomegalia por tumoración de aspecto quístico del bazo; se le realizó esplenectomía e histológicamente se correspondió con un peudoquiste esplénico. Se concluyó que en el diagnóstico diferencial de una esplenomegalia hay que plantearse las lesiones quísticas y pseudoquísticas del bazo. La esplenectomía parcial o total es una opción terapéutica eficaz y permite la diferenciación entre quiste y pseudoquiste esplénico.

This is the case of a female asymptomatic patient, in whom incidentally authors discovered the presence of splenomegalia from splenic cystic tumor; a splenectomy was carried out that from the histological point if view corresponding to a splenic pseudocyst. We conclude that in differential diagnosis of a splenomegalia, we must to consider splenic cystic and pseudocystic lesions. Partial or total splenomegalia is a efficacious therapeutical option allowing differentiation between cyst and splenic pseudocyst.

Chronic myeloid leukaemia at the University Hospital of the West Indies A 17-year review / Leucemia mieloide crónica en el Hospital Universitario de West Indies un estudio de 17 años

OBJECTIVE: To determine the presenting features and evolution of patients diagnosed with chronic myeloid leukaemia between 1983 and 1999 at the University Hospital of the West Indies. METHODS: Forty-one records were retrospectively analyzed for the patients' demographics, reasons for referral, clinical features, laboratory investigations and the time to blast transformation and death. RESULTS: Seventy-one per cent were males and 29% were females. The male to female ratio was 2.4:1. The median age at presentation was 37 years (range 14-81 years). Seventy-eight per cent of the patients presented in the chronic phase. Weight loss and splenomegaly were the most frequent presenting features being seen in 54 and 83 per cent respectively. The median survival was 36 months. CONCLUSION: In this study, the clinical features and evolution were comparable to existing data. Improved accrual and routine Philadelphia chromosome testing would provide a more accurate reflection of the status of CML in our population.

OBJETIVO: Determinar los rasgos presentes y la evolución de los pacientes diagnosticados con leucemia mieloide crónica entre 1983 y 1999 en el Hospital Universitario de West Indies. MÉTODOS: Cuarenta historias clínicas fueron analizadas respectivamente en busca de los datos demográficos de los pacientes, las razones para la remisión de casos, las características clínicas, las investigaciones de laboratorio y el tiempo hasta la transformación blástica y la muerte. RESULTADOS: El setenta y uno por ciento eran varones y el 29% eran hembras. La proporción varones-hembras fue 2.4:1. La mediana de la edad en el momento de la presentación fue de 37 años (rango 14-81 años). Setenta y ocho por ciento de los pacientes se presentaron en la fase crónica. Pérdida de peso y esplenomegalia fueron las características más frecuentemente observadas en el 54 y el 83 por ciento respectivamente. La mediana de la supervivencia fue 36 meses. CONCLUSIÓN: En este estudio, las características clínicas y la evolución fueron comparables con los datos existentes. El mejoramiento de la acumulación y las pruebas de rutina para identificar el cromosoma Filadelfia, reflejarían con mayor precisión el estatus de la LMC en nuestra población.

A neonate with petechiae and pancytopenia at birth as uncommon presentation of congenital HIV infection.

The authors describe a Thai newborn boy who was presented with petechiae, hepatosplenomegaly and pancytopenia at birth caused by congenital HIV infection. His clinical presentations were appeared on the early onset after birth. The bone marrow finding has shown hypocellularity which was also rare in HIV-infected children.

Abnormal hepatic function and splenomegaly on the newly diagnosed acute leukemia patients.

To evaluate the liver function, splenomegaly and related factors in the newly diagnosed acute leukemia patients. One hundred of fifty eight acute leukemia patients admitted in our hospital from March 2003 to April 2006 were studied. The related factors such as peripheral WBC count, bone marrow blasts, peripheral blasts, sex, age, AML, ALL affecting the liver function and splenomegaly were evaluated. Sixty two (39.24%) patients presented with splenomegaly. Twelve (7.59%) patients presented with hepatomegaly. Serum ALT was elevated in 54 (34.17%) patients. Similarly, serum AST, GGT, ALP, and Direct bilirubin were elevated in 26 (16.45%), 32 (20.25%), 20 (12.65%), and 22 (13.92%) patients, respectively. Low serum albumin was found in 40 (25.31%) patients. PT was prolonged in 62 (39.24%) patients. Statistical study shows that there is a relation between high WBC counts and elevated serum ALT (P<0.05) and high WBC counts and splenomegaly (P<0.05). Acute leukemia patients with leukocytosis are more prone to develop abnormal liver function and splenomegaly.

Step by step clinical diagnosis

A 49 years old man admitted in the emergency room with gingival hemorrhage. He was thrombocytopenic, had a huge splenomegaly, and a history of epistaxis. Huge splenomegaly has a large list of differential diagnosis [DDx] with infectious disease, Liver disease and cancers that we rolled out these DDx with step by step diagnosis. And finally we found hereditary Gucher's disease, in spite of his age [49yrs]. By the recurrent hemorrhage and severity of thrombocytopenia and leucopenia, spleenectomy was done and the patient discharged with good general appearance. Gaucher's disease should be considered in the differential diagnosis of patients with unexplained organomegaly, easy bruisability and/or bone pain. Bone marrow examination usually reveals the presence of Gaucher cells; however all suspected diagnoses should be confirmed by demonstrating deficient acid b-glucosidase activity in isolated leucocytes or cultured fibroblasts