EXPERIENCE IN THE EVALUATION OF CHILDREN WITH HEPATOSPLENOMEGALY AT A TEACHING AMBULATORY, SÃO PAULO, BRAZIL

Objectives: Describe cases of children with hepatosplenomegaly (HS) attended at the General Pediatric Teaching Ambulatory (AGER) of Instituto da Criança, São Paulo, identifying the main causes, evolution, necessity for hospitalization and/or referral to specialists. Methodology: Retrospective analysis of the records of children presenting HS on admission at AGER from September 1, 1993 to August 31, 1996. Results: Of the 89 children included (age range, 1 to 148 months; median, 24 months), 64 (72%) were referred from other services for HS investigation. Most common presenting complaints were: fever - 39 (44%); pallor - 26 (29%); weight loss - 21 (24%) and jaundice - 14 (16%). Main alterations noticed on physical examination were: pallor - 47 (53%) and short stature - 17 (19%). Anemia was diagnosed in 70 children (79%); 35 children (39%) had infections; 7 (8%) metabolic disorders and 5 (6%) neoplastic disorders. The most frequent infections were of the urinary tract - 9 (10%) and hepatitis A - 6 (7%).Thirty six children (40%) were referred to specialists, 17 of which were already diagnosed. Conclusions: Most of the children with HS present deficiency anemia associated with infections which the general pediatrician is able to diagnose. Persistence of unexplained HS for more than 2 months, especially when there is substantial volume enlargement or alteration in the organs consistency, is an indication for referral to specialists.

Family occurrence of schistosomal hepatosplenomegaly and maternal effect

In this paper we present a study of members of 265 nuclear families, aged six or more. This study is based of family heredograms, and takes into account the clinical form ofschistosomiasis observed before treatment with oxamniquine. The probability of occurrence of two or more cases ofhepatosplenomegaly is low, notwithstanding the fact that it was observed in 38 families. Even less frequent is the occurrence of three or more cases observed in 17 families (P=0.002). The concentration of the hepatosplenic form was higher among siblings than it was among mothers and children, or fathers and children. It was found to be not significant between husband (father) and wife (mother). These observations reinforce the evidence for the presence of a genetic component in susceptibility to the hepatosplenic form of the disease. In cases in which the mother was hepatosplenic there was a higher incidence of hepatosplenic children; the relative risk was a least five times higher than in those in which the father was the affected member (the maternal effect). In cases where both members were affected by the hepatointestinal form, the risk to the filial generation was similar to that of the population in general. Thus, in the process towards severe forms of Schistosomiasis mansoni, pre and post natal factors might be involved.

Etat fébrile et Hépatosplénomégalie chez une femme de 25 ans: approche diagnostique [A 25-year-old woman with fever and hepatosplenomegaly: diagnostic approach]

We proceeded to an extensive etiologic search in a young women with a hepatosplenomegaly and a chronic persistent fever. We discuss the differential diagnosis of this situation with a final diagnosis of sarcoidosis.

What is your diagnosis? Hepatosplenomegaly in a howler monkey (Alouatta fusca)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

CHRONIC ACTIVE EPSTEIN-BARR VIRUS INFECTION MIMICKING HENOCH-SCHONLEIN PURPURA

Introduction: Chronic active Epstein-Barr virus (CAEBV) infection is characterized by chronic or recurrent symptoms for at least 3 months, such as fever, hepatosplenomegaly and lymphadenopathy. The diagnosis is established due to the presence of anti-EBV antibodies or isolation of this infectious agent in affected tissues. Three cases of CAEBV infection mimicking Henoch-Schonlein purpura (HSP) were described. Case 1: Female 3-year old patient with cervical adenomegaly, anemia and fever developed palpable purpura, haematuria and arthritis. CAEBV infection was established by serology test. She received methylprednisolone and acyclovir. She had generalized lymphadenopathy, hepatomegaly, splenomegaly, disseminated intravascular coagulation and deceased. Case 2: Male 12-year old patient with persistent anemia, lymphadenopathy, hepatomegaly and splenomegaly had CAEBV infection diagnosis by serology test. He developed purpura and arthritis and received methylprednisolone. Case 3: Male 13-year old patient had purpura, abdominal pain, haematuria, hepatomegaly, splenomegaly, lymphadenopathy, anemia and elevated liver enzymes. The cervical lymph node biopsy was positive to EBV infection. He received methylprednisolone and acyclovir, developing acute fulminant hepatitis and death. Discussion: CAEBV infection mimicking HSP was rarely observed in our population

Schistosomiasis in the People's Republic of China: Prospects and challenges for the 21st century

Schistosomiasis japonica is a serious communicable disease and a major disease risk for more than 30 million people living in the tropical and subtropical zones of China. Infection remains a major public health concern despite 45 years of intensive control efforts. It is estimated that 865, 000 people and 100,250 bovines are today infected in the provinces where the disease is endemic, and its transmission continues. Unlike tire other schistosome species known to infect humans, the oriental schistosome, Schistosoma japonicum, is a true zoonotic organism, with a range of mammalian reservoirs, making control efforts extremely difficult. Clinical features of schistosomiasis range from fever; headache, and lethargy to severe fibro-obstructive pathology leading to portal hypertension, ascites, and hepatosplenomegaly, which can cause premature death. Infected children ale stunted and have cognitive defects impairing memory and learning ability. Current control programs are heavily based on community chemotherapy with a single dose of the drug praziquantel, but vaccines (for use in bovines and humans) in combination with other control strategies ale needed to make elimination of the disease possible. In this article, we provide an overview of the biology, epidemiology clinical features, and prospects for cona ol of oriental schistosomiasis in the People's Republic of China.

Possible oral transmission of acute Chagas' disease in Brazil

In October, 1986, 7 to 22 days after a meeting at a farm in Paraíba state, 26 individuals presented with a febrile illness associated with bilateral eyelid and lower limb edema, mild hepatosplenomegaly, lymphadenopathy and, occasionally a skin rash. A 11-year-old boy exhibited atrial premature complexes and a 74-year-old patient developed acute heart failure. In two patients hospitalized in São Paulo city, acute Chagas' disease was diagnosed by the demonstration of circulating Trypanosoma cruzi. At autopsy in a fatal case, acute Chagas' cardiomyopathy was demonstrated. Xenodiagnosis were positive in 9 out of 14 tested patients. A specific IgG immune response was found in all patients and specific IgM antibodies were identified in 20 out of 22 tested patients. A epidemiological survey showed the existence of Triatoma brasiliensis in the outbuildings of this farm, but none in the house where most of the guests stayed. A high rate of infection with Trypanosoma cruzi was found in opossums. These observations together with those related to the food consumed by the patients, lead the authors to suggest that the human infections resulted from oral contamination probably originating from naturally infected marsupials in the area or crushed infected bugs.

Salmonella-S. mansoni ASSOCIATION IN PATIENTS WITH ACQUIRED IMMUNODEFICIENCY SYNDROME

Two young men with Salmonella bacteraemia, active schistosomiasis and the acquired immunodeficiency syndrome are reported. The clinical presentation comprised nonspecific signs and symptoms, such as fatigue, malaise, weight loss, diarrhoea, prolonged fever, and hepatosplenomegaly. In one patient, liver biopsy showed poorly formed granulomata around Schistosoma mansoni eggs and hepatitis. Treatment of schistosomiasis alone induced consistent clinical improvement with eventual cure of both Salmonella and S. mansoni infections. Recognition of the Salmonella-S. mansoni association in patients with AIDS is important because treatment of schistosomiasis makes a difference, improving the prognosis of this otherwise, recurrent, potentially fatal bacteraemia.

Fatal disseminated paracoccidioidomycosis in a two-year-old child

A two year-old female child was admitted at the Pediatric Intensive Care Unit in a septic shock associated with a lymphoproliferative syndrome, with history of fever, adynamia and weight loss during the last two months. On admission, the main clinical and laboratory manifestations were: pallor, jaundice, disseminated enlarged lymph nodes, hepatosplenomegaly, crusted warts on face, anemia, eosinophilia, thrombocytopenia, increased direct and indirect bilirubin, alkaline phosphatase, and gammaglutamyl transpeptidase. A parenteral administration of fluids, dobutamine and mechanical ventilation was started, without improvement of the clinical conditions. A direct examination of exsudate collected from cervical lymph node revealed numerous oval-to-around cells with multiple budding, like a "pilot wheel" cell, suggesting Paracoccidioides brasiliensis. Even though treatment with intravenous sulfamethoxazole-trimethoprine was soon started, the child died 36 hours after hospital admission. Disseminated paracoccidioidomycosis was confirmed in the autopsy. This is the youngest case of paracoccidioidomycosis in children reported in the literature.

CASE STUDY OF A PATIENT WITH HIV-AIDS AND VISCERAL LEISHMANIASIS CO-INFECTION IN MULTIPLE EPISODES

SUMMARYReport of a 45-year-old male farmer, a resident in the forest zone of Pernambuco, who was diagnosed with human immunodeficiency virus (HIV) in 1999 and treated using antiretroviral (ARV) drugs. In 2005, the first episode of visceral leishmaniasis (VL), as assessed by parasitological diagnosis of bone marrow aspirate, was recorded. When admitted to the hospital, the patient presented fever, hepatosplenomegaly, weight loss, and diarrhea. Since then, six additional episodes of VL occurred, with a frequency rate of one per year (2005-2012, except in 2008). In 2011, the patient presented a disseminated skin lesion caused by the amastigotes of Leishmania, as identified by histopathological assessment of skin biopsy samples. In 2005, he was treated with N-methyl-glucamine-antimony and amphotericin B deoxycholate. However, since 2006 because of a reported toxicity, the drug of choice was liposomal amphotericin B. As recommended by the Ministry of Health, this report emphasizes the need for HIV patients living in VL endemic areas to include this parasitosis in their follow-up protocol, particularly after the first infection of VL.

FIRST CASE OF AUTOCHTHONOUS HUMAN VISCERAL LEISHMANIASIS IN THE URBAN CENTER OF RIO DE JANEIRO: CASE REPORT

Visceral leishmaniasis is an anthropozoonosis that is caused by protozoa of the genus Leishmania, especially Leishmania (Leishmania) infantum, and is transmitted to humans by the bite of sandflies of the genus Lutzomyia, such as Lutzomyia longipalpis. There are many reservoirs, including Canis familiaris. It is a chronic infectious disease with systemic involvement that is characterized by three phases: the initial period, the state period and the final period. The main symptoms are fever, malnutrition, hepatosplenomegaly, and pancytopenia. This article reports a case of a patient diagnosed with visceral leishmaniasis in the final period following autochthonous transmission in the urban area of Rio de Janeiro. The case reported here is considered by the Municipal Civil Defense and Health Surveillance of Rio de Janeiro to be the first instance of autochthonous visceral leishmaniasis in humans in the urban area of this city. The patient was discharged and is undergoing a follow-up at the outpatient clinic, demonstrating clinical improvement.

EXPANSION OF VISCERAL LEISHMANIASIS IN THE STATE OF RIO DE JANEIRO, BRAZIL: REPORT OF THE FIRST AUTOCHTHONOUS CASE IN THE MUNICIPALITY OF VOLTA REDONDA AND THE DIFFICULTY OF DIAGNOSIS

Visceral Leishmaniasis has been showing remarkable epidemiological changes in recent decades, with marked expansion and an emergence of cases in urban areas of the North, Southeast and Midwest regions of Brazil. The Kala-azar cases reported here, despite being very characteristic, presented a great difficulty of diagnosis, because the disease is not endemic in Volta Redonda. The child underwent two hospitalizations in different hospitals, but got the correct diagnosis only after 11 months of symptom onset. In this report we discuss the main differential diagnoses and call attention to the suspected symptoms of visceral leishmaniasis in patients with prolonged fever, hepatosplenomegaly and pancytopenia, even in areas not traditionally endemic for the disease.

HISTORICAL SERIES OF PATIENTS WITH VISCERAL LEISHMANIASIS TREATED WITH MEGLUMINE ANTIMONIATE IN A HOSPITAL FOR TROPICAL DISEASES, MACEIÓ-AL, BRAZIL

Introduction: Visceral leishmaniasis is an endemic protozoan found in Brazil. It is characterized by fever, pallor, hepatosplenomegaly, lymphadenopathy, and progressive weakness in the patient. It may lead to death if untreated. The drug of choice for treatment is meglumine antimoniate (Glucantime®). The aim of this study was to evaluate patients with visceral leishmaniasis according to criteria used for diagnosis, possible reactions to Glucantime® and blood pressure measured before and after treatment. Methods: 89 patients admitted to the Teaching Hospital Dr. Hélvio Auto (HEHA) in Maceió-AL, in the period from May 2006 to December 2009 were evaluated. Data were collected on age, sex, origin, method of diagnosis, adverse effects of drugs, duration of hospitalization, duration of treatment and dosage up to the onset of adverse effects. Results: There was a predominance of child male patients, aged between one and five years old, from the interior of the State of Alagoas. Parasitological diagnosis was made by bone marrow aspirate; three (3.37%) patients died, 12 (13.48%) had adverse reactions and treatment was changed to amphotericin B, and 74 (83.14%) were cured. Changes that led to replacing Glucantime® were persistent fever, jaundice, rash, bleeding and cyanosis. Conclusion: During the study, 89 patients hospitalized for VL were analyzed: 74 were healed, 12 were replaced by amphotericin B treatment and three died. Most of them were under five years old, male and came from the interior. The dosage and duration of treatment with Glucantime® were consistent with that advocated by the Ministry of Health. Persistence of fever, jaundice, rash, cyanosis and bleeding were the reactions that led the physician to modify treatment. No change was observed in blood pressure before and after treatment. This study demonstrated the work of a hospital, a reference in the treatment of leishmaniasis, which has many patients demanding its services in this area. It demonstrates that this disease is still important today, and needs to be addressed properly to prevent injury and death due to the disease.

Hyper-IgD and Periodic Fever Syndrome: a New MVK Mutation (p.R277G) Associated with a Severe Phenotype

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Herewe report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, where as anakinra showed positive responses only at high doses. The p.R277Gmutation here described is a novel missense MVK mutation, and it has been detected in this casewith a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies.

Rate of reversion of hepatosplenic schistosomiasis after specific therapy

Seventy patients with hepatosplenic schistosomiasis were treated with oxamniquine. The patients lived iti an endemic area and were evaluated 6, 18 and 24 months after treatment, during which time transmission in the area was interrupted. After treatment, clinical improvement occurred in 49 (70%) of the patients, as seen by reduction in visceromegaly and reversion of liver nodules. Reversion of hepatosplenic disease occurred in 28 (40%) patients and in liver nodularity in 26 (47.3%)patients after 24 months. Reversion of hepatosplenic disease was seen in 12 (21%) patients and liver nodules disappeared in 4 (8.5%) as early as 6 months after treatment. In general, hepatosplenomegaly reverses earlier than liver nodularity. Itis notable that reversion of hepatosplenic disease occurred in many individuals with a history ofprevious treatment and also in some with advanced age. In four cases this clinical form of the disease had existed for 20 years. Therefore, there must exist factors other than age and duration of the condition which determine the reversibility of this clinical form. Ourresults reinforce the concept that, in patients with hepatosplenic disease without esophageal hemorrhages, specific treatment shouldpreceed surgical intervention even in those with a history of previous treatment. At least 18 months should be allowed for the ejfects of treatment to be manifest.