Esplenomegalia masiva en el curso de reactivación de histoplasmosis diseminada en paciente de sida / Massive splenomegaly in the course of disseminated histoplasmosis reactivation in an AIDS patient

Introducción: La histoplasmosis diseminada es la forma de presentación más frecuente de esta micosis endémica en pacientes de sida. La esplenomegalia consecuente es muy frecuente, pero generalmente no es masiva. Objetivo: Describir un caso no frecuente de esplenomegalia masiva por histoplasmosis diseminada en un paciente de sida. Caso clínico: Se presenta el caso de un paciente de sida diagnosticado hacía 14 años. Desde entonces cumplió tratamiento antirretroviral en forma irregular. Tuvo un primer evento de esta micosis 10 años atrás. En esa ocasión, tuvo tratamiento antimicótico por 4 meses sin continuar con profilaxis secundaria. Inició con síntomas sugestivos de reactivación de la enfermedad 6 meses después. Se mantuvo sintomático en forma recurrente por todos esos años y acudió en fecha actual en estadio avanzado con linfadenopatías grandes y hepatoesplenomegalia masiva. Se confirmó el diagnóstico mediante biopsia ganglionar y se impuso tratamiento antimicótico, con lo cual los síntomas desaparecieron y hubo una reducción ostensible de los órganos que estaban aumentados de tamaño. Conclusión: La esplenomegalia masiva puede presentarse en esta enfermedad. En este caso debe haber sido originada por el largo periodo de reactivación, a su vez determinado por el estado de inmunodepresión oscilante, ya muy avanzado en el momento de su presentación, por la irregularidad del tratamiento antirretroviral y la falta de profilaxis secundaria de la micosis(AU)

Introduction: Disseminated histoplasmosis is the most frequent form of presentation of this endemic mycosis in AIDS patients. Splenomegaly commonly occurs as a consequence of it, but it is not usually massive. Objective: To describe an uncommon case of massive splenomegaly caused by disseminated histoplasmosis in an AIDS patient. Clinical case: The case of an AIDS patient diagnosed 14 years ago is presented. Since diagnosis, the patient has been under antiretroviral treatment irregularly. The first event of this mycosis was 10 years ago. In that occasion, antimitotic treatment was prescribed for four months without secondary prophylaxis. Six months later, symptoms suggestive of reactivation of the disease started. The patient remained symptomatic on a recurrent basis over these years, and attended recently to the hospital in an advanced stage of the disease with large lymphadenopathies and massive hepatosplenomegaly. Diagnostic was confirmed by node biopsy, and antimycotic treatment was indicated, resulting in the resolution of the symptoms and an evident reduction of the enlarged organs. Conclusions: Massive splenomegaly can be present in this disease. In this case, it should have been originated due to a long reactivation period which was determined by the varying and advanced immunosuppressed state, the irregularity with the antiretroviral treatment, and the lack of secondary prophylaxis for the mycosis(AU)

Advance in Niemann-Pick disease type C / 国际儿科学杂志

Niemann-Pick disease type C is a lipid storage disorder associated with impaired intracellular cholesterol trafficking, caused by mutations of either NPC1 or NPC2 genes.According to the age at onset of symptoms, it is divided into 5 categories, including neonatal, early-infantile, late-infantile, juvenile and adult type.There are differences in clinical manifestations and prognoses among each category.The characteristic clinical manifestations are hepatosplenomegaly, lung infiltration, vertical supranuclear gaze palsy and gelastic cataplexy.The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies with filipin staining and(or) of pathogenic mutation of NPC1/NPC2 genes.There is no effective treatment for this disease yet, therefore the overall prognosis is still poor.Miglustat can delay onset of the neurological symptoms, and prolong survival of partial patients.

Secondary haemophagocytic lymphohistiocytosis in a child with brucellosis

Human brucellosis is a zoonotic infection, mostly caused by B. melitensis and usually presents as an acute febrile illness. Once considered rare in children, it is now recognized that brucellosis can affect persons of all ages, especially in areas where B. melitensis is the predominant species. Complications may affect any organ system. On the other hand Secondary Hemophagocytic lymphohistiocytosis (SHLH) can occur due to systemic infections, immunodeficiency, and underlying malignancies. (SHLH) is histologically characterized by excessive proliferation and activation of histiocytes or macrophages. Brucellosis associated with SHLH should be suspected whenever there is a prolonged fever along with hepatosplenomegaly and pancytopenia.

A Case of Postnatally Acquired Tuberculosis in a 2 Month Old Infant

Introduction: Postnatally acquired tuberculosis is a seriousdisease caused by mycobacterium tuberculosis. It is fatal ifleft untreated. Following case report emphasises the needto consider tubercular infection in newborns and infantspresenting with pulmonary infections particularly in Indiawhere burden of Tb is high.Case report: we present a case of 68 days old female infantbrought to us with cough & respiratory distress. Investigationsrevealed tubercular infection, which the patient acquiredpostnatally from her paternal aunt, who was taking care of thechild in the initial few days of her life.Conclusion: India is a country with high Tb prevalence.Therefore, in our country, physicians need to have a highindex of suspicion for congenital or perinatal tuberculosiswhile evaluating infants with pneumonia. Early diagnosis andtreatment improves the prognosis significantly.Keywords: Tuberculosis, Hepatosplenomegaly,

Generalidades de un paciente afebril con hepatoesplenomegalia en pediatría / Overview of an afebrile patient with hepatosplenomegaly in pediatrics

Introducción: La hepatoesplenomegalia es el agrandamiento simultaneo del hígado y del bazo, aunque es frecuente en edad pediátrica su literatura se centra en causa infecciosa, siendo también importante otras causas sobre todo en el paciente afebril Método: revisión de literatura actual confrontando con artículos de revisiones de temas en búsqueda electrónica en bases de datos de RIMA, MEDLINE, PUB-MED, MEDSCAPE, de 1981 a 2018. Resultados: La hepatomegalia en paciente afebril se puede encontrar en afectación sistémica o enfermedades hereditarias, algunas prevalentes o extremadamente raras, por lo cual se desarrolló esta revisión para agrupar las causas de esta en un paciente pediátrico afebril.

Introduction: Hepatosplenomegaly is the simultaneous enlargement of the liver and spleen, although it is frequent in pediatric age, its literature focuses on an infectious cause, and other causes are important, especially in the afebrile patient. Method: review of current literature comparing articles from subject reviews. in electronic search in RIMA, MEDLINE, PUB-MED, MEDSCAPE databases, from 1981 to 2018. Results: Hepatomegaly in afebrile patient can be found in systemic involvement or hereditary diseases, some prevalent or extremely rare, for which reason developed this review to group the causes of this in an afebrile pediatric patient.

Budd Chiari syndrome due to inferior vena cava web complicating pregnancy in patient with bad obstetric history: an interesting case

Presenting an unusual case of 27 years old female who presented at 18 weeks of pregnancy with second trimester bleeding per vaginum. Patient had history of recurrent abortions on examination was found to have hypertension and thrombocytopenia. Usg done revealed severe oligohydramnios. Patient was managed conservatively but aborted spontaneously at 22 weeks of gestation. Post-abortionl on day 2 patient developed abdominal distension and liver function tests were found to be deranged. USG and CT abdomen and pelvis was done, which revealed Budd chiari syndrome due to inferior vena cava (IVC) web. This extremely rare condition is characterized by obstruction of inferior vena cava by membrane or fibrous band. This condition is diagnosed by radiological techniques which in our patient revealed classical findings of caudate lobe hypertrophy, non-visualization of hepatic veins, moderate hepatomegaly and spleenomegaly and multiple collaterals. Esophagogastroduodenoscopy done which revealed large varieces for which endoscopic variceal ligation was done. IVCgram and IVC plasty was done by interventional radiology department 6 weeks after abortion. The aim of this case report is to highlight an extremely rare cause of Budd Chiari syndrome and IVC web in patient with recurrent abortion with spleenomegly leading to thrombocytopenia. It is important to rule out other differential diagnosis in these patients like APLA, ITP.

Clinical profile of scrub typhus patients in a tertiary care centre in Himachal Pradesh, India

Background: Scrub typhus a zoonotic disease caused by gram negative bacteria O. tsutsugamushi, is endemic in Himachal Pradesh. This illness occurs mainly in monsoon and post monsoon season. study design of  this study was conducted in a tertiary care centre in Himachal Pradesh between July 2015 and June 2016. All the indoor patients with age above 18 years with a diagnosis of scrub typhus were included in this study.Results: Out of total 180 patients, 130 were female patients. Most patients were in the age group 21-30 (23.3%). All the patients presented with history of fever, but 54 patients presented with high grade fever. Other Most common symptom was chills and rigours (81%), followed by vomiting and headache each 32%, cough 31%. On examination 21% patients had eschar,14% patients had lymphadenopathy. Most number of patients presented in the month of September (51.6%), followed by August (33.3%).Conclusion: Scrub typhus being an important differential of acute undifferentiated fever in this region, should not be missed by primary care physicians, as once multi organ dysfunction sets in, mortality rate starts rising. So, there is a high need of sensitization of doctors and people about this illness so that early diagnosis and early treatment can be ensured.

Osteopetrosis infantil maligna / Malignant Infantile osteopetrosis

INTRODUCCIÓN: Osteopetrosis Infantil Maligna (OIM) es un grave e inusual desorden genético debi do a una actividad osteoclástica anormal. OBJETIVO: Reportar lactante en quien se documentó una Osteopetrosis Infantil Maligna, revisando aspectos diagnósticos y terapéuticos más relevantes. CASO CLÍNICO: Reportamos un lactante de 10 meses de sexo masculino en quien se confirmó OIM tras presentar plaquetopenia y visceromegalias. En su historial destacó ser primer hijo de padres no consanguíneos, y entre sus hallazgos presentó hepatoesplenomegalia, plaquetopenia y anemia graves, compromiso sensorial visual y auditivo e infecciones a repetición. El diagnóstico fue confirmado mediante estudio genético, el cual identificó 2 mutaciones heterocigotas en el gen TCIRG1. Se rea lizó trasplante de precursores hematopoyéticos, sin haber presentado recuperación hematológica, falleciendo por enfermedad veno oclusiva. DISCUSIÓN: La OIM es una enfermedad inusual, grave y de inicio temprano, siendo necesario un elevado índice de sospecha ante hepatoesplenomegalia y falla medular. El diagnóstico temprano y el trasplante de precursores hematopoyéticos son las únicas intervenciones potencialmente curativas de esta entidad letal.

INTRODUCCIÓN: Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity. OBJECTIVE: To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects. CLINICAL CASE: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. He was the first child of non-consanguineous parents, and among the findings, he presented severe hepatosplenomegaly, thrombocytopenia, and anemia; visual and hearing impairment, and repeated infections. The diagnosis was confirmed by genetic study, which identified two heterozygous mutations in the TCIRG1 gene. Hematopoietic stem cells were transplanted without hematological recovery. The patient died due to occlusive venous disease. DISCUSSION: MIOP is a rare, severe, and early-onset disease, with a high rate of suspicion necessary in the presence of hepatosplenomegaly and bone marrow failure. Early diagnosis and hematopoietic stem cells transplanta tion are the only potentially therapeutic interventions of this lethal entity.

Enfermedad de Gaucher tipo 1. Presentación de caso / Type 1 Gaucher's Disease. Presentation of a Case

La enfermedad de Gaucher es un trastorno autosómico recesivo raro debido a la ausencia de la enzima glucocerebrosidasa, produciéndose acumulación de glucocerebrósidos en el sistema retículo endotelial. Se manifiesta por alteraciones hemáticas, hepatoesplenomegalia y manifestaciones neurológicas y óseas. Las células que acumulan el glucocerebrósido son llamadas células de Gaucher. Se presenta una paciente femenina, blanca, de 16 años de edad, de procedencia rural que acudió a consulta del Hospital Pediátrico Provincial Octavio de la Concepción y de la Pedraja por presentar anemia, decaimiento y pérdida de peso, acompañado además por aumento de volumen del abdomen. Con el antecedente de presentar necrosis aséptica del fémur derecho, y madre diabética. Al examen físico se constató la presencia de una gran palidez cutánea mucosa, hepatoesplenomegalia. El examen neurológico fue totalmente normal. En los exámenes de sangre se encontró anemia y trombocitopenia. Se realizó biopsia de bazo, hígado y médula ósea encontrándose las células de Gaucher. El diagnóstico se realizó basado en la clínica, cobrando gran peso la presencia de manifestaciones óseas y la hepatoesplenomegalia. Se basó además en la observación histológica de las células de Gaucher y en la determinación de los niveles bajos de actividad de la enzima glucocerebrosidasa en los leucocitos de la sangre o fibroblastos cutáneos.

Gaucher disease is a rare autosomal recessive disorder due to the absence of the enzyme glucocerebrosidase, resulting in accumulation of glucocerebrosides in the endothelial reticulum system. It is manifested by hematic alterations, hepatosplenomegaly and neurological and bone manifestations. Cells that accumulate the glucocerebroside are called Gaucher cells. A 16-year-old white female patient of rural origin who came to Octavio de la Concepción y de La Pedraja Provincial Pediatric Hospital presenting anemia, decay and weight loss, was also accompanied by an increase in volume abdomen. With the history of presenting aseptic necrosis of the right femur and diabetic mother. Physical examination revealed the presence of large mucosal skin paleness, hepatosplenomegaly. The neurological examination was completely normal. Anemia and thrombocytopenia were found on the blood tests. Biopsy of the spleen, liver and bone marrow was performed with Gaucher cells. The diagnosis was made based on the clinic, with heavy presence of bone manifestations and hepatosplenomegaly. It was also based on histological observation of Gaucher cells and on the determination of low levels of glucocerebrosidase enzyme activity in blood leukocytes or cutaneous fibroblasts.

Coinfección pulmonar por Rhodococcus equi e Histoplasmosis en paciente con SIDA

RESUMEN Introducción Rhodococcus equi, patógeno intracelular, afecta a pacientes inmunodeprimidos, en ellos la infección pulmonar es la forma más frecuente de presentación. La Histoplasmosis, micosis profunda, habitualmente diseminada en pacientes con SIDA, relacionada al CD4 bajo. Caso Clínico Varón de 43 años, HIV+, con WB: 08/04/15, CD4: 13, CV: 92.076, TARV con Tenofovir + Lamivudina + Efavirenz, cuadro de 5 días de sensación febril, tos con expectoración amarillenta y dolor tipo puntada en hemitórax izquierdo. Examen físico MV disminuido en hemitórax izquierdo, crepitantes en campo medio. Hepatoesplenomegalia leve. Lesiones papulares violáceas indoloras en tórax y miembro superior derecho. Hemocultivo: Rhodococcus equi. TAC de tórax: imagen hiperdensa con cavitaciones en campo medio del parénquima pulmonar izquierdo. Biopsia de piel, anatomía patológica: SK en estadio de mácula. Fibrobroncoscopía + Bx transbronquial: BAL (-), anatomía patológica: proceso inflamatorio granulomatoso severo. Pancitopenia durante internación. PAMO: (-). BxMO: microgranuloma de etiología a determinar. Cultivo de MO: Histoplasma capsulatum. Recibió tratamiento con Levofloxacina 750mg/d + Azitromicina 500mg/d + Rifampicina 900 mg/d y Anfotercina B desoxicolato con buena evolución clínica. Discución La persistencia de picos febriles obligó a la realización de procedimientos invasivos para diagnosticar una coinfección oculta. Es bien conocida la afección de inmunodeprimidos por estos patógenos.

ABSTRACT Introduction Rhodococcus equi, an intracellular pathogen, affects immunecompromised patients, where lung infection is the most frequent form of presentation. Histoplasmosis, deep mycosis, usually disseminated in patients with AIDS, is related to low CD4. Clinical Case Male, 43 years, HIV +, with WB: 08/04/15, CD4: 13, CV: 92.076, ART with Tenofovir + Lamivudine + Efavirenz, 5-day fever, cough with yellowish expectoration and type pain Stitch in left hemithorax. MV physical examination decreased in left hemithorax, crackling in midfield. Mild hepatosplenomegaly. Painless violaceous papular lesions in the thorax and right upper limb. Hemoculture: Rhodococcus equi. Chest CT: hyperdense image with cavitations in the middle field of the left lung parenchyma. Skin biopsy, pathological anatomy: SK at macula stage. Fibrobronchoscopy + transbronchial Bx: BAL (-), pathological anatomy: severe granulomatous inflammatory process. Pancytopenia during hospitalization. PAMO (-). BxMO: microgranuloma of aetiology to be determined. Culture of MO: Histoplasma capsulatum. Received treatment with Levofloxacin 750mg / d + Azithromycin 500mg / d + Rifampicin 900mg / d and amphotericin B deoxycholate with good clinical evolution. Discussion The persistence of febrile spikes forced invasive procedures to diagnose occult coinfection. It is well known the condition of immunosuppressed by these pathogens.

Scrub Typhus in Children at a Tertiary Care Hospital in Odisha: A Study on Clinical, Laboratory Profile, Complications and Its Outcome.

Background: To study the clinical profile, laboratory parameters, complications and outcome of scrub typhus in children. Methods: One hundred children with undiagnosed febrile illness admitted to our hospital from Aug 2014 to Nov 2014 were included in the study. All children were tested for scrub typhus using a commercial ELISA kit for specific IgM antibodies against Orientia tsutsugamushi. Results: Out of 100 children admitted to our hospital, only 50(50%) patients had positive IgM antibodies against O. tsutsugamushi. 30(60%) cases had fever of 5 to 10 days duration and 20(40%) cases had fever of more than 10 days duration. Vomiting with abdominal pain was reported in 20 (40%) cases, Lymphadenopathy in 18 (36%), hepatosplenomegaly in 35 (70%), generalized edema in 18 (36%) patients. Eschar was seen in 25(50%) patients. Most common abnormal laboratory parameters were raised SGOT, thrombocytopenia, raised bilirubin, raised CRP, leukocytosis and anemia. Most common complications were shock and electrolyte disturbances. Conclusion: In children Scrub typhus should be considered in the differential diagnosis of acute febrile illness associated with gastrointestinal symptoms, hepatosplenomegaly and lymphadenopathy .Prompt antibiotic treatment for scrub typhus should be given in cases with strong clinical suspicion to prevent morbidity and mortality.

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Niemann-Pick disease, type C (NP-C), is caused by NPC1 or NPC2 gene mutations. Progressive neurological, psychiatric, and visceral symptoms are characteristic. Here, we present cases of a brother (Case 1) and sister (Case 2) in their mid-20s with gait disturbance and psychosis. For the Case 1, neurological examination revealed dystonia, ataxia, vertical supranuclear-gaze palsy (VSGP), and global cognitive impairment. Case 2 showed milder, but similar symptoms, with cortical atrophy. Abdominal computed tomography showed hepatosplenomegaly in both cases. NPC1 gene sequencing revealed compound heterozygote for exon 9 (c.1552C>T [R518W]) and exon 18 (c.2780C>T [A927V]). Filipin-staining tests were also positive. When a young patient with ataxia or dystonia shows VSGP, NP-C should be considered.

Comportamiento Clínico de la Leishmaniosis Visceral en Población Infantil. Diez Años de Experiencia de un Centro de Referencia del Paraguay

Objetivo: Analizar las características clínicas, laboratoriales y evolución de pacientes pediátricos hospitalizados por leishmaniosis visceral en el Instituto de Medicina Tropical. Población y métodos: Estudio observacional realizado en el Instituto de Medicina Tropical en pacientes <15 años hospitalizados durante el periodo 2003 al 2013 con diagnóstico de leishmaniosis visceral. El diagnóstico de leishmaniosis visceral se realizó por la visualización de amastigotes en la médula ósea y/o positividad del Rk 39. Resultados: Durante el periodo de estudio 53 pacientes fueron identificados, con una edad media 35,4 pts ± 32 meses, (relación Femenino / Masculino: 28/27). La mayoría de los casos se encontraron en el grupo de edad < 2 años 28/53 (52 %), seguido por el grupo de 2 a 5 años. El tiempo medio entre la aparición de síntomas y la hospitalización fue de 73 ± 43 días y el promedio de días de internación 22 ± 10 días. La tríada de fiebre, hepatoesplenomegalia estuvo presente en prácticamente todos los pacientes. Anemia, leucopenia y trombocitopenia en 94 %, 58 %, 58 % de los casos, respectivamente y pancitopenia en el 38 % de los pacientes. Se constató amastigotes en médula ósea en el 94 % (50/53) de los pacientes, serología positiva para RK39 en 51/53 pacientes (96%). Se observaron complicaciones en 33/53 pacientes (62%), en su mayoría infecciosas, de las cuales (32%) presentaron neumonía y 9 (17%) infección del tracto urinario. Siete pacientes (13%) presentaron síndrome hemofagocítico. En cuanto al tratamiento inicial 47 pacientes (91%) fueron tratados con compuestos antimoniales, de los cuales 2 pacientes precisaron cambio de tratamiento a anfotericina B, por efectos adversos de la medicación. 6 pacientes (9%) recibieron tratamiento inicial con anfotericina B liposomal (esquema clásico: 5/6, tratamiento acortado con monodosis de 10 mg/k/d: 1/6), todos con síndrome Hemofagocítico asociado. Solo 1 paciente presentó recaída de la enfermedad. La mortalidad registrada fue del 2% (1/53).

Aim: To analyze the clinical, laboratory and development of pediatric patients hospitalized for visceral leishmaniasis at the Institute of Tropical Medicine features. Observational study conducted at the Institute of Tropical Medicine in patients <15 years hospitalized during the period 2003 to 2013 with diagnosis of visceral leishmaniasis. The diagnosis of visceral leishmaniasis was performed by visualizing amastigotes in bone marrow and / or positivity rK 39. Results: During the study 53 patients were identified, mean age 35.4 ± 32 pts months (ratio Female / Male: 28/27). Most cases were in the age group <2 years 28/53 (52%), followed by the group of 2-5 years. The mean time between onset of symptoms and hospitalization was 73 ± 43 days and the average days of hospitalization 22 ± 10 days. The triad of fever, hepatosplenomegaly was present in almost all patients. Anemia, leukopenia and thrombocytopenia in 94%, 58%, 58% of cases, respectively, and pancytopenia in 38% of patients. It was found amastigotes in bone marrow in 94% (50/53) of patients seropositive for rK39 in 51/53 patients (96%). Complications in 33/53 patients (62%), most infectious, of which (32%) had pneumonia and 9 (17%) urinary tract infection were observed. Seven patients (13%) had hemophagocytic syndrome. As for the initial treatment 47 patients (91%) were treated with antimonial compounds, of which 2 patients required treatment change to amphotericin B, due to adverse effects of medication. 6 patients (9%) received initial treatment with liposomal amphotericin B (classical scheme: 5/6, shortened treatment with single doses of 10 mg/kg/d: 1/6), all associated hemophagocytic syndrome. Only one patient had recurrence of the disease. Registered mortality was 2% (1/53)

A Rare Case of Infantile Gaucher Disease-A Case Report

A 3-month old male child weight 3.2 kg presented was with anaemia (Hb 3.1 mg/dl) and massive hepatospleenomegaly. His respiratory and CVS systems were normal. Osmatic fragility and G6PD spot test were normal. Hb electrophoresis showed HbA-86.02%, HbF 2.8% and HbA2 3.9%. Bone marrow aspiration and biopsy showed typical Gaucher cells. This case was diagnosed as an infantile Gaucher's disease.

Historical seriss of patients with visceral leihmaniasis treated with megluminne antimoniate in a hospital for tropical diseases, Maceió-AL, Brazil / Série histórica dos pacientes com leishmaniose visceral tratados com antimoniato de meglumina em hospital de Doenças Tropicais, Maceió-AL, Brasil

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.

A Leishmaniose visceral é doença infecciosa causada por protozoários das espécies chagasi e donovani sendo transmitida pela picada de insetos fêmea dos gêneros Lutzomyia e Phlebotomos. Constitui doença febril, determinando amplo aspecto de manifestações clínicas e prognóstico variável, que pode levar à morte se não for tratada. É doença endêmica encontrada no Brasil e nos últimos anos verificou-se intenso processo de urbanização da endemia e aumento da letalidade por leishmaniose visceral. O estudo teve como objetivo avaliar pacientes com leishmaniose visceral de acordo com os critérios utilizados para o diagnóstico, possíveis reações ao Glucantime® e pressão arterial, medidos antes e após o tratamento. Métodos: Foram avaliados 89 pacientes internados no Hospital Universitário Dr. Hélvio Auto (HEHA), em Maceió-AL, no período de maio de 2006 a dezembro de 2009. Foram coletados dados sobre idade, sexo, origem, método de diagnóstico, efeitos adversos da droga, duração da hospitalização, duração do tratamento e dose até o aparecimento de efeitos adversos. Resultados: Houve predomínio de crianças do sexo masculino, com idade entre um e cinco anos, a partir do interior do Estado de Alagoas. O diagnóstico parasitológico foi feito pelo aspirado de medula óssea, três (3,37%) pacientes morreram, 12 (13,48 %) apresentaram reações adversas e o tratamento foi alterado para anfotericina B, e 74 (83,14 %) foram curados. As alterações que levaram à substituição de Glucantime® foi febre persistente. A dosagem e duração do tratamento com Glucantime® foi seguido como preconizado pelo Ministério da Saúde. A persistência de febre, icterícia, prurido, cianose e sangramento foram as reações que levaram o médico a modificar o tratamento. Nenhuma mudança foi observada na pressão arterial antes e após o tratamento. O estudo realizado demonstrou o perfil de um Hospital, que recebe grande demanda de casos de leishmaniose visceral. Isso demonstra que essa doença continua sendo importante na atualidade, precisando ser abordada de maneira adequada, evitando assim agravos e mortes pela doença.

Clinical features and GBA gene mutation in two siblings with typeⅢ Gaucher disease / 临床儿科杂志

Objective To report clinical manifestations, electroencephalogram (EEG), and the genotypes of two siblings with type Ⅲ Gaucher disease.Methods Two patients with different features were siblings. Their clinical data, signs, peripheral leukocytes acid β-glucosidase activity, andGBA gene were analyzed.Results (1) The proband was a boy. He visited us at the age of nine years old because of hepatosplenomegaly, thrombocytopenia and growth retardation without any neurologic symp-toms. He had normal intelligence but abnormal EEG ifndings. The activity of acid β-glucosidase in his leucocytes decreased to 1.5 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr), supporting the diagnosis of type Ⅲ Gaucher disease. (2) The elder sister of the proband was 12 years old. She had tonic-clonic seizure and myoclonus seizure from the age of seven years old. Mild hepatomegaly, abnormal EEG, poor effect for antiepileptics, and progressive deterioration of psychomotor abilities were found. Her blood leucocytes acid β-glucosidase activity decreased to 1.8 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr). Two heterozygous missense mutations, c.680A>G, (p.N188S) and c.1342G>C (p.D409H) were detected from the two siblings, respec-tively.Conclusions Patients with type Ⅲ Gaucher disease usually have the onset in childhood with typical features of Gaucher disease without neurologic involvement. Abnormal EEG may be helpful to the differential diagnosis of type I or type Ⅲ. On the other hand, neurologic manifestations could be presented as the ifrst symptom in some patients without viscera enlargement. The patients of type Ⅲ Gaucher disease with the same genotype could have different phenotypes, even between the siblings.

Schistosoma mansoni-Related Hepatosplenic Morbidity in Adult Population on Kome Island, Sengerema District, Tanzania

Schistosomiasis is one of the important neglected tropical diseases (NTDs) in Tanzania, particularly in Lake Victoria zone. This baseline survey was a part of the main study of integrated control of schistosomiasis and soil-transmitted helminths (STHs) aimed at describing morbidity patterns due to intestinal schistosomiasis among adults living on Kome Island, Sengerema District, Tanzania. Total 388 adults from Kome Islands (about 50 people from each village) aged between 12 and 85 years, were examined by abdominal ultrasound according to the Niamey protocol. Liver image patterns (LIPs) A and B were considered normal, and C-F as distinct periportal fibrosis (PPF). The overall prevalence of PPF was 42.2%; much higher in males than in females (47.0% in male vs 34.4% in females, P=0.007). Abnormal increase of segmental branch wall thickness (SBWT) and dilated portal vein diameter (PVD) were also more common in males than in females. Hepatosplenomegaly was frequently encountered; 68.1% had left liver lobe hepatomegaly and 55.2% had splenomegaly. Schistosoma mansoni-related morbidity is quite high among adults in this community justifying the implementation of integrated control strategies through mass drug administration, improved water supply (pumped wells), and health education that had already started in the study area.

Aggressive natural killer-cell leukemia: Classical presentation of a rare disease.

Aggressive natural killer-cell leukaemia is a rare aggressive form of natural killer-cell neoplasm. We report a case of a 40-year-old male who presented with jaundice, raised blood counts,generalised lymphadenopathy and hepatosplenomegaly. The diagnosis was established by flow cytometric analysis of bone marrow aspirate. The patient, however, succumbed to his illness within 2 weeks of starting chemotherapy. To the best of our knowledge,this is the third reported case from India.

Fatal missed case of hemophagocytic lymphohistiocytosis co-infected with parvovirus B19 and Epstein-Barr virus in an infant: Test hyperferritinaemia early.

Hemophagocytic lymphohistiocytosis (HLH) triggered by Parvovirus B19 and Epstein-Barr virus co‑infection is rare and unknown in infants. A 2‑month‑old male infant with fever, rash, bicytopenia and hepato‑splenomegaly died owing to diagnostic dilemmas. Hence simply testing for hyperferritinaemia and hypertriglyceridemia/hypofibrinogenemia could diagnose HLH early while robust treatment be life‑saving.

Congenital leukemia of fetus with acquired AML1 gene duplication

Congenital leukemia is very rare, and its prevalence according to recently published papers is from 1 to 5 per million live births. This can be often diagnosed in postpartum throughout bone marrow biopsy, showing abnormal proliferation of immature blasts and granulocytic precursors. Hepatosplenomegaly is the most common feature which is found during perinatal examinations, that diagnosing is difficult during perinatal period. Hepatosplenomegaly can occur not only in congenital leukemia but in many other cases such as infection which is the most common cause. In other words, congenital leukemia is the one of the rare causes of hepatosplenomegaly. However, this case shows the fetus with the features of hepatosplenomegaly during perinatal period and being diagnosed as congenital leukemia associated with acquired AML1 gene duplication in postpartum through bone marrow biopsy. Due to its rare instance, we are to describe the case with a review of literatures.