Epidemiological profile of patients co-infected with visceral leishmaniasis and HIV/AIDS in Northeast, Brazil

Abstract INTRODUCTION: Visceral leishmaniasis (VL) and human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) co-infection has been a research topic of interest worldwide. In Brazil, it has been observed that there is a relative underreporting and failure in the understanding and management of this important association. The aim of this study was to analyze epidemiological and clinical aspects of patients with VL with and without HIV/AIDS. METHODS: We conducted an observational and analytical study of patients with VL followed in a Reference Service in the State of Maranhão, Brazil from 2007-2013. RESULTS: In total 126 patients were enrolled, of which 61 (48.4%) were co-infected with HIV/AIDS. There were more males among those with HIV/AIDS (85.2%, P>0.05) or with VL only (81.5%, P>0.05). These findings significantly differed based on age group (P<0.003); the majority of patients were aged 31-40 years (41.0%) and 21-30 years (32.3%) among those with and without HIV/AIDS co-infection, respectively. The incidence of diarrhea and splenomegaly significantly differed between the two groups (P=0.0014 and P=0.019, respectively). The myelogram parasitic examination was used most frequently among those with HIV/AIDS (91.8%), followed by those with VL only (69.2%). VL recurrences and mortality were significantly higher in the HIV/AIDS co-infected patients (P<0.0001 and P=0.012, respectively). CONCLUSIONS: Patients with VL with or without HIV/AIDS co-infection were mostly adult men. Diarrhea was more frequent in HIV/AIDS co-infected patients, whereas splenomegaly was more common in patients with VL only. In the group of HIV/AIDS co-infected patients, there was a higher rate of VL recurrence and mortality.

Biometria do fígado e do baço em pacientes com lúpus eritematoso sistêmico de início pediátrico / Liver and spleen biometrics in childhood-onset systemic lupus erythematosus patients

RESUMOObjetivoAvaliar as dimensões do fígado e do baço em pacientes com lúpus eritematoso sistêmico de início pediátrico (LESp) e controles saudáveis.MétodosForam submetidos a uma ultrassonografia do abdome 30 pacientes com LESp e 30 voluntários saudáveis controle. Foram feitas duas medições do fígado no lobo hepático esquerdo (craniocaudal e anteroposterior) e três no lobo hepático direito (LHD) (craniocaudal posterior [CCP-LHD], craniocaudal anterior e anteroposterior). Foram também avaliadas três medidas das dimensões do baço: longitudinal, transversal e anteroposterior. Foram avaliados dados demográficos, clínicos e laboratoriais, SLEDAI-2K, ECLAM, SLAM e tratamento.ResultadosA idade média foi semelhante nos pacientes com LESp e controles (170,31 ± 27,81 vs. 164,15 ± 39,25 meses; p = 0,486). A média da dimensão CCP-LHD foi significativamente maior no grupo LESp em comparação com os controles (13,30 ± 1,85 vs. 12,52 ± 0,93, p = 0,044). Não houve diferenças nos outros parâmetros biométricos do fígado e do baço (p > 0,05). Uma análise especifica realizada apenas nos pacientes com LESp de acordo com a dimensão CCP-LHD ≥ 13,3 cm versus < 13,3 cm mostrou que a mediana do SLEDAI-2K [8 (0-18) vs. 2 (0-8), p = 0,004], ECLAM [4 (0-9) vs. 2 (0-5), p = 0,019] e SLAM [5 (1-13) vs. 2 (0-14), p = 0,016] era significativamente maior em pacientes com maior dimensão CCP-LHD, do mesmo modo que a frequência de nefrite (77% vs. 29%, p = 0,010). As enzimas hepáticas foram semelhantes nos dois grupos (p > 0,05). Foi observada uma correlação positiva entre o SLEDAI-2K e a dimensão CCP-LHD (p = 0,001, r = +0,595). Evidenciou-se uma correlação negativa entre a duração da doença e a dimensão longitudinal do baço (p = 0,031, r = −0,394).ConclusãoOs dados levantam a possibilidade de que a atividade da doença pode levar a uma hepatomegalia subclínica e localizada durante o curso da doença. A duração da doença resultou em atrofia do baço em pacientes com LESp.

ABSTRACTObjectiveTo evaluate liver and spleen dimensions in childhood-onset systemic lupus erythematosus (c-SLE) patients and healthy controls.Methods30 c-SLE patients and 30 healthy control volunteers underwent abdominal ultrasound. The following two liver measurements were performed in left hepatic lobe: craniocaudal and anteroposterior and three in right hepatic lobe (RHL): posterior craniocaudal (PCC-RHL), anterior craniocaudal and anteroposterior. Three spleen dimension measurements were also evaluated: longitudinal, transverse and anteroposterior. Demographic, clinical and laboratorial data, SLEDAI-2K, ECLAM, SLAM and treatment were assessed.ResultsMean current age was similar in c-SLE and controls (170.31 ± 27.81 vs. 164.15 ± 39.25months; p = 0.486). The mean of PCC-RHL dimension was significantly higher in c-SLE compared to controls (13.30 ± 1.85 vs. 12.52 ± 0.93, p = 0.044). There were no differences between the other hepatic biometrics and splenic parameters (p > 0.05). Further analysis in c-SLE patients according to PCC-RHL dimension ≥ 13.3 cm versus < 13.3 cm showed that the median of SLEDAI-2K [8(0-18) vs. 2(0-8), p = 0.004], ECLAM [4(0-9) vs. 2(0-5), p = 0.019] and SLAM [5(1-13) vs. 2(0-14), p = 0.016] were significantly higher in patients with higher PCC-RHL dimension, likewise the frequencie of nephritis (77% vs. 29%, p = 0.010). Liver enzymes were similar in both groups (p > 0.05). Positive correlation was observed between SLEDAI-2K and PCC-RHL (p = 0.001, r = +0.595). Negative correlation was evidenced between disease duration and longitudinal dimension of spleen (p = 0.031, r = −0.394).ConclusionOur data raises the possibility that disease activity could lead to a subclinical and localized hepatomegaly during the disease course. Long disease duration resulted to spleen atrophy in c-SLE patients.

Hyperreactive malarious splenomegaly and aids: a case report

Malaria is endemic in the North of Brazil. However, Hyperreactive Malarious Splenomegaly (HMS) has been rarely described. Splenomegaly in HIV/Aids infection has a large differential diagnosis, but malaria is a cause of gross splenomegaly, regardless of the HIV status. In this paper, we report the case of a 50-year-old man, HIV positive, with massive splenomegaly and multiple malaria infections in the past. He fulfilled the criteria for HMS, received a short course of anti-malarial treatment and weekly quimioprofilatic Chloroquine. In 9 months, he had great clinical and laboratorial improvement confirming the HMS, a rare diagnosis in Brazil.

Enfermedad renal poliquística autosómica recesiva: reporte de un caso / Autosomal recessive polycystic kidney disease: a case report

La enfermedad renal poliquística es una enfermedad genética que se caracteriza por dilataciones quísticas progresivas de los túbulos renales, presentándose de forma autosómica dominante o recesiva, con una incidencia de 1 en 1.000 y 1 en 20.000 nacidos vivos, respectivamente según series internacionales. La variedad autosómica recesiva puede ser letal en el período neonatal debido a insuficiencia respiratoria secundaria a hipoplasia pulmonar, y puede manifestarse durante la infancia con hipertensión arterial, talla baja y complicaciones secundarias a hipertensión portal. PRESENTACIÓN DEL CASO: paciente preescolar de 3 años 11 meses, con antecedente de restricción del crecimiento fetal y oligohidroamnios en período prenatal, presenta cuadro de decaimiento, palidez y dificultad alimentaria progresiva con vómitos posprandiales, destacando al examen físico un soplo cardíaco, hipertensión arterial, esplenomegalia, circulación colateral, además de talla baja. En exámenes destaca un hemograma con pancitopenia periférica, ecografía abdominal con hepatoesplenomegalia, hallazgos compatibles con enfermedad renal poliquística autosómica recesiva y fibrosis periportal, cintigrama renal con hipofunción renal bilateral, test de sangre oculta en deposiciones positivo, endoscopía digestiva alta convárices esofágicas pequeñas, radiografía de carpo con edad ósea retrasada y ecocardiografía con cardiomegalia. DISCUSIÓN: se requiere un alto índice de sospecha ante esta enfermedad poco frecuente, que cursa con hipertensión portal, siendo el recuento de plaquetas el mejor predictor de severidad. Dado que carece de tratamiento curativo y su historia natural es progresar haciala insuficiencia renal terminal, su tratamiento se enfoca en las complicaciones secundarias al daño hepático y renal...

Polycystic Kidney Disease is a genetic disorder characterized by progressive cystic dilations of the renal ducts, presenting as autosomal dominant or recessive forms with an incidence of 1 in 1.000 and 1 in 20.000 births, respectively, according to international series. The autosomal recessive variety can be lethal in the neonatal period due to respiratory failure secondary to pulmonary hypoplasia and can manifest during childhood with hypertension, short stature and complications of portal hypertension. CASE REPORT: 3 years and 11 months old preschoolar with antecedent of fetal growth restriction and oligohydramnios during prenatal period, and a historyof asthenia, pallor and progressive feeding difficulty with postprandial vomiting. Physical examination shows cardiac bruit, hypertension, splenomegaly, caput medusae and short stature. Laboratory tests with peripheral pancytopenia; abdominal ultrasonography showed hepatosplenomegaly, findings consistent with autosomal recessive polycystic kidney disease and periportalfibrosis; renal scintigraphy with bilateral kidney failure; a positive fecal occult blood test; an upper endoscopy that shows small esophageal varices; a hand radiography that shows bone age delayed and an echocardiography with cardiomegaly. DISCUSSION: This infrequent disease requires a high degree of suspicion by the clinician and presents with portal hypertension, with platelet count being the best predictor of severity. This condition has no cure and will progress to end-stage renal disease in any moment, so the aim is to minimize and treat renal and hepatic complications...

A Case of Hereditary Spherocytosis Coexisting with Gilbert's Syndrome / 대한소화기학회지

We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.

Enfermedad de Gaucher en Latinoamérica: Un informe del Registro Internacional y del Grupo Latinoamericano para la Enfermedad de Gaucher / Gaucher disease in Latin America: A report from the Gaucher Disease International Registry and the Latin Americam Group for Gaucher Disease

La enfermedad de Gaucher, por su escasa frecuencia, está incluida dentro de las llamadas enfermedades huérfanas. En 1991 se creó el Registro Internacional de Gaucher y en 1992 se incorporaron los primeros pacientes de Latinoamérica. En el año 2008 se creó el Grupo Latinoamericano para la Enfermedad de Gaucher (GLAEG) cuyos principales objetivos son fomentar la realización de consensos regionales, difundir el ingreso de pacientes al registro internacional y aumentar el conocimiento sobre la enfermedad para lograr mejorar la atención y la calidad de vida de los pacientes. Hasta abril del 2010 ingresaron 5828 pacientes de todo el mundo, 911 (15.6%) son de Latinoamérica. Este es el primer informe global de la enfermedad en la Región: hay un predominio del sexo femenino, la forma clínica más frecuente es el tipo I (95%); al diagnóstico la mayoría son <20 años (68%). Las manifestaciones clínicas más frecuentes al diagnóstico son esplenomegalia (96%) y anemia (49%), el 80% presentó hallazgos radiológicos de compromiso óseo. En nuestra Región, la gran mayoría de los pacientes (89%) ha recibido alguna vez terapia de reemplazo enzimática con imiglucerasa logrando, con un seguimiento prolongado (hasta10 años), las metas terapéuticas que muestran la gran eficacia de la terapia. Si bien el porcentaje de pacientes con terapia es alto, las suspensiones de tratamiento son frecuentes. Las principales deficiencias en nuestra Región son: la carencia de evaluaciones viscerales volumétricas, de densitometría y de estudios moleculares en algunos pacientes. El principal problema es el subdiagnóstico.

Gaucher disease -due to its low frequency- is considered an orphan disease. In 1991 the International Gaucher Registry was created and in 1992 the first patients from Latin America were enrolled. In 2008 the Latin American Group for Gaucher Disease was initiated. Its main objectives are to promote regional consensus, to stimulate the enrolment of patients into the International Gaucher Registry and the enhancement of knowledge on this disease, and to achieve better care and quality of life of patients in our Region. Until April 2010, 5828 patients have been enrolled all around the world, 911 (15.6%) from Latin America. This is the first comprehensive report of the disease in the Region. In our population there is a predominance of females, the most common clinical form is the type I (95%) and the age at diagnosis is before 20 years in 68% of patients. The most frequent clinical manifestations at diagnosis are splenomegaly (96%) and anemia (49%). Eighty percent of patients had radiographic findings of bone involvement. In our Region, the vast majority of patients (89%) had received enzyme replacement therapy with imiglucerase; with a long follow-up (up to 10 years) they have achieved the therapeutic goals, showing the great effectiveness of therapy. While the percentage of patients with therapy is high, discontinuations are common. The main deficiencies in our Region are: the lack of visceral volumetric evaluations and densitometries as well as molecular analysis for some patients. The main problem is the under-diagnosis of patients.

Linfoma esplénico de zona marginal como causa de esplenomegalia masiva: reporte de caso clínico y revisión de la literatura / Splenic marginal zone lymphoma as cause for massive splenomegaly: a clinical case and literature review

Massive splenomegaly is in the which the growth of the spleen has spread to other quadrants of the abdomen. It is produced by a limited number of pathologies, both benign and malignant. It is presented a case of a 62 year-old woman who is consulting for four years of progressive increase in her abdominal volume, associated to the feeling of abdominal fullness, dyspnea on moderate exertion and lower extremities edema. At the physical examination was observed massive splenomegaly and jaundice. The hemogram showed pancytopenia and a lymphocyte count of80 percent. The myelogram revealed marrow infiltration by lymphocytes of mature appearance. Flow cytometry of peripheral blood showed 70 percent of lymphocytes, which expressed B cells markers CD19, CD20, CD23and FMC7 in addition to Kappa light chain restriction, suggesting marginal splenic zone lymphoma. The bone marrow biopsy showed lymphoid small cells infiltrate with positive markers CD20, CD5,CD23 and negative cyclin D1 study. BCL-2 was also positive. It was considered unfit to receive chemotherapy and was treated with 4 cycles of rituximab, with significant decrease of splenic size.

Portal vein thrombosis in children and adolescents: 20 years experience of a pediatric hepatology reference center / Trombose de veia porta em crianças e adolescentes: experiência de 20 anos de um serviço de referência em hepatologia pediátrica

CONTEXT: Portal vein thrombosis refers to a total or partial obstruction of the blood flow in this vein due to a thrombus formation. It is an important cause of portal hypertension in the pediatric age group with high morbidity rates due to its main complication - the upper gastrointestinal bleeding. OBJECTIVE: To describe a group of patients with portal vein thrombosis without associated hepatic disease of the Pediatric Hepatology Clinic of the Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil with emphasis on diagnosis, presentation form and clinical complications, and the treatment of portal hypertension. METHODS: This is a descriptive study of a series of children and adolescents cases assisted from January 1990 to December 2010. The portal vein thrombosis diagnosis was established by ultrasound. RESULTS: Of the 55 studied patients, 30 (54.5%) were male. In 29 patients (52.7%), none of the risk factors for portal vein thrombosis was observed. The predominant form of presentation was the upper gastrointestinal bleeding (52.7%). In 20 patients (36.4%), the initial manifestation was splenomegaly. During the whole following period of the study, 39 patients (70.9%) showed at least one episode of upper gastrointestinal bleeding. The mean age of patients in the first episode was 4.6 ± 3.4 years old. The endoscopic procedure carried out in the urgency or electively for search of esophageal varices showed its presence in 84.9% of the evaluated patients. The prophylactic endoscopic treatment was performed with endoscopic band ligation of varices in 31.3% of patients. Only one died due to refractory bleeding. CONCLUSIONS: The portal vein thrombosis is one of the most important causes of upper gastrointestinal bleeding in children. In all non febrile children with splenomegaly and/or hematemesis and without hepatomegaly and with normal hepatic function tests, it should be suspect of portal vein thrombosis. Thus, an appropriate diagnostic and treatment approach is desirable in an attempt to reduce morbidity and mortality.

CONTEXTO: Trombose da veia porta refere-se a uma obstrução total ou parcial do fluxo de sangue nesta veia devido à formação de um trombo. É uma causa importante da hipertensão porta na faixa etária pediátrica, com taxas elevadas de morbidade devido a sua principal complicação - a hemorragia digestiva alta. OBJETIVO: Descrever o grupo de crianças e adolescentes com trombose de veia porta sem doença hepática associada do Ambulatório de Hepatologia Pediátrica do Hospital das Clínicas da UFMG, Belo Horizonte, MG, Brasil, com ênfase no diagnóstico, forma de apresentação, complicações clínicas e na abordagem da hipertensão porta. MÉTODOS: Trata-se de estudo descritivo de uma série de casos de crianças e adolescentes atendidos de janeiro de 1990 a dezembro de 2010. O diagnóstico de trombose de veia porta foi estabelecido por ultrassonografia. RESULTADOS: Dos 55 pacientes analisados, 30 (54,5%) eram do gênero masculino. Em 29 pacientes (52,7%) não foi identificado nenhum fator de risco para trombose de veia porta. A forma de apresentação predominante foi hemorragia digestiva alta (52,7%). Em 20 pacientes (36,4%), a manifestação inicial foi esplenomegalia. Durante todo o período de seguimento, 39 pacientes (70,9%) apresentaram, pelo menos, um episódio de hemorragia digestiva alta. A média de idade dos pacientes neste primeiro episódio foi de 4,6 ± 3,4 anos. O exame endoscópico, seja realizado na urgência ou eletivamente para pesquisa de varizes esofágicas, mostrou sua presença em 84,9% dos pacientes avaliados. O tratamento endoscópico profilático foi realizado com ligadura elástica de varizes em 31,3% dos pacientes. Apenas um evoluiu para óbito devido a sangramento refratário. CONCLUSÕES: A trombose de veia porta é uma das causas mais importantes de hemorragia digestiva alta em crianças. Deve-se suspeitar de trombose de veia porta em toda criança com esplenomegalia afebril e/ou hematêmese, sem hepatomegalia e com testes de função hepática normais. Desta forma, uma abordagem diagnóstica e terapêutica adequada é desejável na tentativa de reduzir a morbimortalidade.

Increased immunohistochemical expression of YKL-40 in the spleen of patients with portal hypertension

YKL-40 has been identified as a growth factor in connective tissue cells and also a migration factor in vascular smooth muscle cells. To a large extent, the increase of serum YKL-40 is attributed to liver fibrosis and asthma. However, the relationship of the expression and clinical/prognostic significance of YKL-40 to the splenomegaly of patients with portal hypertension is unclear. In the present study, the expression of YKL-40 was studied by immunohistochemistry in 48 splenomegaly tissue samples from patients with portal hypertension and in 14 normal spleen specimens. All specimens were quickly stored at -80°C after resection. Primary antibodies YKL-40 (1:150 dilution, rabbit polyclonal IgG) and MMP-9 (1:200 dilution, rabbit monoclonal IgG) and antirabbit immunoglobulins (HRP K4010) were used in this study. The relationship of clinicopathologic features with YKL-40 is presented. The expression of YKL-40 indicated by increased immunochemical reactivity was significantly up-regulated in splenomegaly tissues compared to normal spleen tissues. Overexpression of YKL-40 was found in 68.8 percent of splenomegaly tissues and was significantly associated with Child-Pugh classification (P = 0.000), free portal pressure (correlation coefficient = 0.499, P < 0.01) and spleen fibrosis (correlation coefficient = 0.857, P < 0.01). Further study showed a significant correlation between YKL-40 and MMP-9 (correlation coefficient = -0.839, P < 0.01), indicating that YKL-40 might be an accelerator of spleen tissue remodeling by inhibiting the expression of MMP-9. In conclusion, YKL-40 is an important factor involved in the remodeling of spleen tissue of portal hypertension patients and can be used as a therapeutic target for splenomegaly.

Anemia hemolítica autoinmune como manifestación inicial de linfoma Hodgkin / Auto inmune hemolytic anemia how initial manifestation of Hodgkin lymphoma

Se presenta el caso de una paciente de 66 años de edad, a la que se le diagnóstica anemia hemolítica, la cual fue refractaria al tratamiento y requirió esplenectomía. Además presenta adenomegalias inguinales, cuya biopsia determina infiltración parcial por células linfoides B CD20+, con atipia, y CD30+, con factor de proliferación alto; en médula ósea se constata incremento de linfocitos T. Cuatro meses después, consulta por la aparición de adenopatías inguinales y axilares, de las cuales la biopsia reveló enfermedad de Hodgkin variante esclerosis nodular, y en médula ósea se evidenció infiltración por la enfermedad linfoproliferativa. Si bien es infrecuente la asociación entre anemia hemolítica y linfoma Hodgkin, debe tenerse en cuenta para llegar a la búsqueda oportuna de su causa y al diagnóstico de un probable proceso linfoproliferativo subyacente.

In this work we report and study a case of 66 year old woman, whit diagnosis of hemolytic anemia, which was refractory to treatment and she required splenectomy. The patient presented inguinal lymphadenopathy which biopsy has determined a partial infiltration of B-cells CD20+ and CD30+ with atypia and high growth factor. The bone marrow biopsy informed an increased number of T lymphocytes. Four month later, the patient complained due to the appearance of inguinal and axillaries lymph nodes, which biopsy revealed a nodular sclerosis Hodgkin lymphoma. The bone marrow biopsy showed infiltration by lymphoproliferative disease. Although the association between hemolytic anemia and Hodgkin lymphoma is less frequent, this fact should be taken into account in searching its cause and reaching the diagnosis of a probable underlying lymphoproliferative process.

A Case of Post-Essential Thrombocythemia Myelofibrosis with Severe Osteosclerosis / 대한진단검사의학회지

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. After many years, a few patients with ET may develop bone marrow (BM) fibrosis and rarely develop osteosclerosis. A 60-yr-old female was admitted due to severe left upper quadrant abdominal discomfort. She had been diagnosed as ET 19 yrs ago. On liver computed tomography severe splenomegaly was shown. Laboratory tests revealed WBC 24.3x10(9)/L, hemoglobin 13.4 g/dL, platelets 432x10(9)/L, lactate dehydrogenase 4,065 IU/L (reference range; 240-480). Blood smear demonstrated leukoerythroblastosis, teardrop cells, and giant and hypogranular platelets. BM study revealed inadequate aspirate due to dry tap. BM biopsy showed clusters of dysplastic megakaryocytes, grade 3 fibrosis, and severe osteosclerosis. Major/minor BCR-ABL1 rearrangement and JAK2 V617F mutation were not detected. Cytogenetic studies revealed normal karyotype. According to the 2008 WHO diagnostic criteria, the patient was diagnosed as having post-essential thrombocythemia myelofibrosis with severe osteosclerosis.

Grandes bazos: presentación de dos casos / Large spleens: about two cases

Los tumores benignos del bazo como los quistes esplénicos y las esplenomegalias per se no representan un peligro para los pacientes portadores de estas raras lesiones; sin embargo tienen un riesgo potencial de crecer y lograr dimensiones que pueda originar complicaciones tales como rotura, producir una hemorragia intraperitoneal o infectarse. A continuación reportamos dos pacientes con bazo gigante, síntomas abdominales inespecíficos y que fueron tratados con cirugía. El primer caso es un paciente con quiste esplénico; histológicamente se caracteriza por la presencia de epitelio escamoso en su pared que condiciona una producción importante, en algunos casos del marcador tumoral CA 19.9 que ha sido descrito en varios trabajos recientes. El segundo caso es un paciente con un gran hiperesplenismo de 26cm de diámetro máximo, y dolor abdominal. En estos pacientes la microscopía muestra frecuentemente infiltración a diferentes niveles, según su enfermedad, de variados elementos que pueden ser desde células benignas como las enfermedades hiperplásicas del sistema reticuloendotelial, células malignas como en las leucemias y linfomas , enfermedades por depósito, o por infiltración en las que se agrupan a las histiocitosis, como es el segundo caso que presentamos. El tratamiento para bazos grandes, generalmente mayores de 13cm de diámetro y con sintomatología, es el quirúrgico y específicamente la esplenectomía total, pues la presencia de restos de la pared del quiste con otras técnicas más conservadoras parece llevar inexorablemente a la recurrencia de la enfermedad, así mismo cirugías conservadoras en hipertrofia o hiperesplenismo sólo perpetuarán la enfermedad de base.

Spleen benign tumors such as splenic cyst and splenomegaly do not represent a danger to patients with these uncommon injuries. However, they potentially risk growing and reaching dimensions that can cause complications such as rupture, producing an infection or intraperitoneal hemorrhage. Here we report two patients with giant spleens, and nonspecific abdominal symptoms which were treated with surgery. The first case was a patient with splenic cyst, histologically characterized by the presence of squamous epithelium in its wall that, in some cases, induces an important production of the tumor marker CA 19.9, which has been described in several recent works. The second case was a patient with a big hypersplenism of about 26 cm in diameter, and abdominal pain. Microscopy in these patients often shows infiltration at different levels, depending on their disease, of various elements ranging from benign cells such as hyperplasic diseases of the reticuloendotheleal system, malignant cells as in the leukemia and lymphoma, abnormal inclusion diseases, or by infiltration, which include the histiocytosis, as in the second case previously presented. The treatment for large spleens, usually over 13 cm in diameter and with symptomatology, is the surgery, and specifically the total splenectomy, because the presence of residues of the cyst wall with other more conservative techniques seem to lead to the recurrence of the disease. Furthermore, conservative surgery in hypersplenism or hypertrophy will only perpetuate the original disease of patients.

Gastrointestinal manifestations of nephropathic cystinosis in children

Cystinosis is an autosomal recessive disorder which is characterized by both renal and extrarenal symptoms. Gastrointestinal dysfunction has been reported in adolescent with cystinosis, and it is rarely considered in the infants. The present case series reviewed gastrointestinal manifestations of these patients. Gastrointestinal signs and symptoms of 23 children aged 5.99 +/- 0.50 years [range, 1.0 to 12.5 years] on average with cystinosis, admitted to our department of nephrology between 1996 and 2005, were retrospectively reviewed. The inclusion criteria were the presence of the crystals of cystine in bone marrow aspiration and corneal deposition detected by slit lamp examination. Gastrointestinal signs and symptoms were as follows: vomiting in 16 patients [69.6%], hepatomegaly in 8 [34.8%], diarrhea in 6 [26.1%], splenomegaly in 5 [21.7%], constipation in 4 [17.4%], anorexia in 4 [17.4%], abdominal pain in 3 [13.0%], nausea in 2 [8.7%], and ascites in 2 [8.7%]. Height below the 3rd percentile in was seen in 16 patients [69.6%] and weight below the 3rd percentile, in 17 [73.9%]. Fifteen patients [65.2%] had both low weight and low height. Esophagogastroduodenoscopy had been performed in 6 cases and chronic inactive gastritis with H pylori infection was detected in 2 patients [8.7%]. Our study revealed a wide spectrum of gastrointestinal disturbances in young patients with cystinosis. Such findings should lead to greater awareness of the presence of gastrointestinal dysfunction in these children, encourage prompt gastrointestinal evaluation, and encourage treatment of more severely affected patients

Torsion of a wandering spleen presenting as a case of acute abdomen

Wandering spleen is a rare cause of acute abdomen. Generally, it remains asymptomatic, it may present clinically as a painless mobile mass or rarely as an acute abdomen when the wandering spleen twists on its pedicle, resulting in splenic congestion, infarction with or without involvement of neighbouring visceras. Here, we present an unusual case of torsion of a wandering spleen, which resulted in congestive splenomegaly and small bowel obstruction as a rare case of acute abdomen

Splenic complications in malaria: a case series.

Splenic complications in malaria may be either simple asymptomatic enlargement or serious conditions, such as splenic infarction, rupture, hematoma or abscess, which can be fatal. Only a few cases have been reported in the literature since 1960. The true incidence of splenic complications is not known because of underdiagnosis and underreporting. We report here four cases which were successfully treated conservatively.

Clinical and laboratory evaluation of 101 patients with intrahepatic neonatal cholestasis / Avaliação clínica e laboratorial de 101 pacientes com colestase neonatal intra-hepática

BACKGROUND: Intrahepatic neonatal cholestasis can be the initial manifestation of a very heterogeneous group of illnesses of different etiologies. AIM: To evaluate and compare clinical and laboratory data among intrahepatic neonatal cholestasis groups of infectious, genetic-endocrine-metabolic and idiopathic etiologies. METHODS: The study evaluated retrospectively clinical and laboratory data of 101 infants, from March 1982 to December 2005, 84 from the State University of Campinas Teaching Hospital, Campinas, SP, Brazil, and 17 from the Child’s Institute of the University of São Paulo, SP, Brazil. The inclusion criteria consisted of: jaundice beginning at up to 3 months of age and hepatic biopsy during the 1st year of life. It had been evaluated: clinical findings (gender, age, birth weight, weight during the first medical visit, stature at birth, jaundice, acholia/hipocholia, choluria, hepatomegaly and splenomegaly) and laboratorial (ALT, AST, FA, GGT, INR). RESULTS: According to diagnosis, patients were classified into three groups: group 1 (infectious) n = 24, group 2 (genetic-endocrine-metabolic) n = 21 and group 3 (idiopathic) n = 56. There were no significant differences in relation to the variables: age, gender, stature at birth, jaundice, acholia/hipocholia, choluria, hepatomegaly, splenomegaly, AST, ALT, ALP, GGT, DB and albumin. Significant differences were observed in relation to the following variables: birth weight and weight during the first medical visit. Birth weight of group 1 was lower in relation group 2 and 3. Weight during the first medical visit followed the same pattern. There was a statistically significant difference in relation to the INR, as the patients of the group 2 presented higher values in relation to groups 2 and 3, despite the median was still pointing out normal values. CONCLUSIONS: There were no significant differences in relation to age, gender, stature at birth, jaundice, acholia/hipocholia, choluria, ...

RACIONAL: A colestase neonatal intra-hepática pode ser a manifestação inicial de um grupo muito heterogêneo de doenças de diferentes causas. OBJETIVO: Avaliar e comparar características clínicas e laboratoriais entre os grupos de colestase neonatal intra-hepática de causa infecciosa, genético-endócrino-metabólica e idiopática. MÉTODOS: Foram revistos os prontuários de 101 pacientes com diagnóstico de colestase neonatal intra-hepática no período de março de 1982 a dezembro de 2005, 84 avaliados no Hospital das Clínicas da Universidade Estadual de Campinas, SP, e 17 no Instituto da Criança da Universidade de São Paulo. Os critérios de inclusão foram: história de surgimento de icterícia até 3 meses de idade e realização da biopsia hepática durante o primeiro ano de vida. Foram avaliados: quadro clínico (gênero, idade, peso ao nascimento, peso à primeira consulta, estatura ao nascimento, icterícia, acolia ou hipocolia, colúria, hepatomegalia e esplenomegalia) e laboratorial (ALT, AST, FA, GGT, INR, BD). RESULTADOS: Os pacientes foram divididos em grupos, de acordo com o diagnóstico etiológico: grupo 1 (infeccioso) n = 24; grupo 2 (genético-endócrino-metabólico) n = 21 e grupo 3 (idiopático) n = 56. Não houve diferença estatisticamente significante em relação às variáveis: gênero, idade, estatura ao nascimento, icterícia, acolia/hipocolia, colúria, hepatomegalia, esplenomegalia, AST, ALT, FA, GGT, BD e albumina. O peso ao nascimento e o peso na primeira consulta dos pacientes com colestase neonatal intra-hepática de etiologia infecciosa foi menor. Houve diferença estatisticamente significante em relação ao INR: os pacientes com causas genético-endócrino-metabólicas apresentaram valor mais prolongado, porém com a mediana se situando dentro dos valores de normalidade. CONCLUSÃO: Não houve diferença estatisticamente significativa entre os grupos em relação às variáveis: gênero, idade, estatura ao nascimento, icterícia, acolia/hipocolia, colúria, ...