Glucogenosis hepática: a propósito de un caso / Hepatic glycogenosis: a case report

RESUMEN Las glucogenosis abarcan un rango de enfermedades que se caracterizan por el almacenamiento o utilización anormal del glucógeno, siendo los órganos más afectados el músculo y/o el hígado. La hepatomegalia puede ser un signo clínico que guie al diagnóstico. Describimos a un paciente de 15 años de edad con hepatomegalia, hipertransaminasemia y retraso del crecimiento, a quien se le diagnosticó glucogenosis por biopsia hepática.

ABSTRACT The glycogen storage diseases contain a range of diseases that are characterized by the abnormal storage or utilization of glycogen, the organs most affected being muscle and / or liver. Hepatomegaly may be a clinical sign that could guide to the diagnosis. We describe a 15-year-old patient with hepatomegaly, hypertransaminasemia and growth retardation. He was diagnosed with a glycogen storage disease by liver biopsy.

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.

Hemangioendotelioma hepático infantil: presentación de un caso clínico / Infantile hepatic hemangioendothelioma: a clinical case

El hemangioendotelioma hepático del lactante es una patología rara y más aún que su forma de presentación tenga complicaciones graves y el paciente fallezca. Se presenta el caso clínico de una lactante menor de 3 meses de edad que ingresó al Servicio Desconcentrado Hospital Pediátrico Dr. Agustín Zubillaga con diagnóstico de intoxicación herbácea (hierbabuena) e íleo metabólico. La hepatomegalia fue el signo más llamativo en la exploración clínica asociado a valores elevados de alfafetoproteína sérica. Los hallazgos ecosonográficos y tomográficos reportaron múltiples lesiones redondeadas que impresionaron metástasis hepáticas. La paciente fallece a los 23 días de iniciada la enfermedad actual siendo el diagnóstico postmortem hemangioendotelioma cavernoso gigante hepático, Se concluye que en general el diagnóstico de esta enfermedad se puede plantear sin una confirmación histológica, particularmente en lactantes menores, cuando los hallazgos clínicos, analíticos e imagenológicos son muy sugestivos aun cuando hay excepciones como lo presentado en este caso clínico(AU)

Infantile hemangioendothelioma is a rare, usually benign, disease. We present a case of a 3-month-old infant who was admitted in the Servicio Desconcentrado Hospital Pediátrico Dr. Agustín Zubillaga with the diagnosis of herbaceous poisoning (peppermint) and metabolic ileus. Hepatomegaly was the most characteristic sign in clinical examination and was associated with elevated levels of alpha-fetoprotein. Echographic and tomographic findings revealed multiple rounded lesions that impressed liver metastases. The patient died 23 days after admission and the postmortem diagnosis showed giant hepatic cavernous hemangioendothelioma. Diagnosis of hemangioendothelioma usually can be done without histopathological confirmation, especially in infants, when clinical, laboratory and imaging features are very suggestive of this disease, however there are exceptions as the one presented in this case(AU)

Hemangioendotelioma hepático infantil multifocal / Multifocal hepatic hemangioendothelioma

INTRODUCCIÓN: El hemangioendotelioma hepático (HEH) es un tumor benigno, raro en niños, que se presenta frecuentemente en el primer año de vida. La presentación clínica es variable y su diagnóstico se realiza en base a la sospecha clínica, estudios de laboratorio y de imagen. El objetivo fue describir un caso de hemangioendotelioma hepático multifocal. CASO CLÍNICO: Niña de 3 meses que presentó hepatomegalia sin elementos de falla hepática ni cardiaca. Se realizó ecografía y tomografía de ab domen que orientaron al diagnóstico de HEH que se confirmó con la angioresonancia de abdomen. Recibió glucocorticoides a altas dosis en forma prolongada. Al año y medio de iniciado el tratamiento se evidenció remisión del tumor. Presentó efectos secundarios por el tratamiento instaurado. CONCLUSIONES: La presencia de una hepatomegalia aislada en un lactante asintomático debe hacer pensar en una probable patología tumoral, orientándonos por la clínica e imagenología al diagnóstico nosológico de la misma. Siempre se debe sospesar las posibles complicaciones con los riesgos de los tratamientos a realizar. En este caso la extensión del tumor y sus probables complicaciones justificó el uso de corticoterapia prologada a altas dosis a pesar de sus efectos adversos.

INTRODUCTION: Hepatic hemangioendothelioma is a rare benign tumor in children, which frequently occurs in the first year of life. The clinical presentation is variable and the diagnosis is based on clinical suspicion, and laboratory and imaging studies. The objective was to describe a case of multifocal hepa tic hemangioendothelioma. CLINICAL REPORT: 3-month-old girl who presented hepatomegaly without elements of hepatic or heart failure. Abdominal ultrasound and CT scan were used to diagnose hepatic hemangioendothelioma, which was confirmed by CT abdominal angiography. The patient received glucocorticoid treatment at high doses for a prolonged period. A year and a half after treatment, there was evidence of tumor remission. She had side effects from the established treatment. CONCLUSIONS: In asymptomatic patients with isolated hepatomegaly, it should be considered a probable tumor patho logy, considering the clinic and imaging studies. Possible complications and treatments risks must always be assessed. In this case, the tumor extension and its probable complications justified the use of prolonged corticosteroid therapy at high doses despite its adverse effects.

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.

Glycogen storage disease type I: clinical and laboratory profile / Doença de depósito de glicogênio tipo I: perfil clínico e laboratorial

OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008). CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. .

OBJETIVOS: Caracterizar o perfil clínico, laboratorial e antropométrico de uma amostra de pacientes brasileiros com doença de depósito de glicogênio tipo I tratados em um ambulatório de referência para erros inatos do metabolismo. MÉTODOS: Este foi um estudo ambulatorial transversal com base em uma estratégia de amostragem de conveniência. Foram avaliados os dados com relação ao diagnóstico, tratamento, parâmetros antropométricos e acompanhamento. RESULTADOS: Foram incluídos 21 pacientes (idade média de 10 anos, faixa 1-25 anos de idade), e todos se encontravam em terapia de amido de milho cru. A idade média na época do diagnóstico foi de sete meses (faixa, 1-32 meses), e 19 pacientes foram submetidos a biópsia hepática para confirmação do diagnóstico. Sobrepeso, baixa estatura, hepatomegalia e nódulos hepáticos foram fatores presentes em 16 de 21, quatro de 21, nove de 14 e três de 14 pacientes, respectivamente. Foi encontrada uma correlação entre os escores z para peso para idade e IMC para idade (r = 0,561; p = 0,008). CONCLUSÕES: O diagnóstico da doença de depósito de glicogênio tipo I tem sido tardio no Brasil. A maioria dos pacientes foi submetida a confirmação do diagnóstico, apesar de o quadro clínico característico e os métodos moleculares poderem fornecer um diagnóstico definitivo de forma menos invasiva. Obesidade é um efeito colateral da terapia com amido de milho e parece estar associada a crescimento nesses pacientes. .

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...

Frecuencia de signos y síntomas gastrointestinales del dengue: Análisis de una cohorte de 1484 pacientes / Frequency of gastrointestinal signs and symptoms of dengue: Analysis of a cohort of 1484 patients

El dengue se caracteriza por fiebre, cefalea, artralgia y mialgia. La presencia de signos y síntomas gastrointestinales (SSGI), se considera señal de alarma en dengue; sin embargo, existe poca información respecto a la ocurrencia de estas manifestaciones. El objetivo de este estudio fue determinar la frecuencia de signos y síntomas gastrointestinales en una cohorte de pacientes con dengue. Se revisaron 1484 fichas clínicas de pacientes con diagnóstico confirmado de dengue, clasificados como: dengue con signos de alarma (DCSA) (n=700); sin signos de alarma (DSSA) (n=700) y dengue grave (DG) (n=84). El 65,71% de los pacientes con DSSA, el 92,59% DCSA y el 100% de los pacientes con DG presentaron SSGI. En los pacientes con DSSA, las náuseas/vómitos fue el síntoma más frecuente 319/700 (45,57%), seguido de dolor abdominal 142/700 (20,29%) y diarrea 125/700 (17,86%). No se registraron casos con melena, hepatomegalia y/o hematemesis. Mientras que en DCSA las náuseas/vómitos estuvieron en 529/700 (75,57%), dolor abdominal 439/700 (62,71%) y diarrea 198/700 (28,28%), fueron los más frecuentes (p<0,0001). Melena, hematemesis y hepatomegalia variaron de 0,57% a 1,86%. En DG, las náuseas/vómitos se registraron en el 100%, dolor abdominal 82/84 (97,62%), diarrea 65/84 (77,38%), melena 32/84 (38,10%), hepatomegalia 28/84 (33,33%) y hematemesis 26/84 (30,95%). Se evidencia alta frecuencia de SSGI en los casos de DCSA y DG a diferencia de DSSA, en los cuales fue significativamente menor. Se sugiere relación de los SSGI con la severidad del dengue y su presencia debe considerarse en la toma de decisiones del equipo de salud para el manejo adecuado del paciente.

Dengue is characterized by fever, headache, arthralgia and myalgia. The presence of gastrointestinal signs and symptoms (GISS) is considered a sign of alarm in dengue; however, little information exists regarding the occurrence of these events. The aim of this study was to determine the frequency of gastrointestinal signs and symptoms in a cohort of patients with dengue. A total of 1484 medical records of patients with confirmed dengue were reviewed and classified as: dengue without warning signs (DNWS) (n = 700), dengue with warning signs (DWWS) (n = 700) and severe dengue (SD) (n = 84). Of the studied records, 65.71% of patients with DNWS, 92.59% with DWWS and 100% of patients with SD had GISS. In patients with DNWS, nausea / vomiting were the most common symptoms in 319/700 cases (45.57%), followed by abdominal pain in 142/700 (20.29%) and diarrhea in 125/700 (17.86%). There were no cases with melena, hepatomegaly or hematemesis. While in DWWS nausea/vomiting were present in 529/700 (75.57%), abdominal pain in 439/700 (62.71%) and diarrhea in 198/700 (28.28%),(p <0.0001). Melena, hematemesis and hepatomegaly ranged from 0.57% to 1.86% of cases. In SD, nausea/vomiting were registered in 100% of the cases, abdominal pain in 82/84 (97.62%), diarrhea in 65/84 (77.38%), melena in 32/84 (38.10%), hepatomegaly in 28/84 (33.33%) and hematemesis in 26/84 (30.95%). It was evident the high frequency of GISS in cases of DWWS and SD, in contrast to DNWS, in which the frequency of GISS was significantly lower. This suggests a relationship of GISS with the severity of dengue, and their presence should be considered by the decision-making health team for appropriate patient management.

Epidemia de chagas agudo adquirido por vía oral en una escuela de Caracas: descripción del caso índice / Epidemic outbreask of acute oral transmited chagas disease: description of the index case

La Enfermedad de Chagas (ECh) usualmente es transmitida al hombre por la penetración cutánea de parásitos contenidos en las heces de vectores hematófagos conocidos como chipos. Sin embargo existen otros mecanismos de transmisión. Se presenta el primer caso diagnosticado del brote de ECh agudo de transmisión oral, ocurrido en diciembre 2007 en una escuela de Caracas. Escolar de nueve años, femenino procedente de Caracas, hospitalizada con fiebre diaria 39-40°C y escalofríos de tres semanas de evolución, decaimiento, mareos, vómitos, astenia, mialgias, adenopatías cervicales, hepatomegalia, edema facial y en miembros inferiores. Los exámenes de laboratorio mostraron linfomonocitosis, serologías negativas para mononucleosis y dengue. En el frotis sanguíneo para el despistaje de malaria se encontró un tripomastigote de Trypanosoma cruzi. ELISA-IgM, ELISA-IgG, hemaglutinación indirecta, reacción en cadena de la polimerasa, cultivo e inoculación en ratones, fueron positivos para ECh. A los pocosdías se detectaron casos similares y se realizó el vínculo epidemiológico que permitió el reconocimiento de una epidemia urbana de ECh de transmisión oral. La paciente recibió nifurtimox y evolucionó satisfactoriamente. En la forma oral de transmisión de la ECh no existe signo de puerta de entrada, las manifestaciones clínicas, como la fiebre alta y prolongada y el edema, suelen ser comunes a otras patologías. En pacientes con fiebre de origen desconocido debe incluirse el frotis sanguíneo y la detección de IgM e IgG específicas para ECh como parte del plan diagnóstico. Se describe en forma pormenorizada el primer caso, considerado caso índice del brote de Chagas agudo adquirido por ingestión de alimentos en un colegio del municipio de Chacao en Caracas.

Chagas disease (ChD) is usually transmitted to man by cutaneous penetration of parasites contained in the feces of haematofagous vectors known as “kissing bugs or chipos”. However, other transmission mechanisms may occur. Herein, we report the first diagnosed case of an epidemic outbreak of acute oral transmitted ChD occurred in December 2007 in a school of Caracas. A 9 year old schoolgirl, coming from Caracas, was hospitalized with daily fever 39-40°C and chills of three weeks duration, sickness, vomitting, astenia, mialgias, cervical adenopathies, hepatomegaly, facial and inferior members edema. The laboratory tests showed lymphomonocytosis, negative serologies for mononucleosis and dengue. In the blood smear done to rule out malaria, tripomastigote of Trypanosoma cruzi was found. ELISA-IgM, ELISA-IgG, indirect hemaglutination, polymerase chain reaction, culture and mice inoculation were all positive for ChD. Few days after, similar cases were detected and it was carried out the epidemiological link that allowed the recognition of an urban outbreak of ChD of oral transmission. The patient evolved satisfactorily after being treated with nifurtimox. In the oral form of transmission of the ChD, signs of entrance do not exist, the clinical manifestations as high and prolonged fever and edema are common to other pathologies. In patients with fever of unknown origin, blood smear as well as search for specific IgM and IgG for ChD should be included as part of the diagnosis. The first case is described in detailed form, considered index case of the outbreak of acute Chagas acquired by food ingestion in a school of Chacao's county in Caracas.

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

Intoxicación pediátrica por fósforo blanco (saltapericos): supervivencia a ingesta de dosis potencialmente letal / Pediatric poisoning with white phosphorus (saltapericos): survival after potentially lethal ingestion

El saltapericos es un juego pirotécnico a base de fósforo inorgánico, cuyo uso está prohibido porque causa daño hepático agudo. Se reporta un caso de intoxicación severa en una niña sobreviviente, quien ingirió una dosis potencialmente letal y recibió asistencia médica tardía. El protocolo terapéutico que se siguió en el presente caso clínico, permitió el logro de una evolución satisfactoria; este tratamiento consistió en descontaminación interna con agua oxigenada y aceite mineral, exsanguinotransfusión y fármacos hipoamonemizantes.

Saltapericos is a pyrotechnic firework containing inorganic phosphorus whose use is banned since causes acute liver damage. A case of severe poisoning is reported in a girl, who consumed a potentially lethal dose and received late medical care. The therapeutic protocol followed in the present clinical case led to a positive outcome; this treatment consisted of internal decontamination with hydrogen peroxide and mineral oil, exchange transfusion and hypoammonemic drugs.

Granulomatous hepatitis following open heart surgery with cardiopulmonary bypass.

BACKGROUND: Cardiopulmonary bypass (CPB) initiates an inflammatory cascade, predisposing the patient to a number of infections. The stress of surgery and anaesthesia further expose the patient to a variety of non-infectious complications. We report a group of patients who developed granulomatous disease after open heart surgery. METHODS: We retrospectively analysed a subset of patients who developed a syndrome of fever, jaundice and hepatomegaly after open heart surgery. We recruited age- and sex-matched controls who underwent open heart surgery during the same period (July 2002-July 2004). Details of demographic profiles, diagnostic evaluation and drug treatment were noted and compared between the two groups using the SPSS software. RESULTS: Five patients were identified to have the specific syndrome of high grade intermittent fever with jaundice and hepatomegaly with investigations revealing an intrahepatic cholestasis. A detailed evaluation revealed granulomas in tissue specimens of the bone marrow and/or liver in these patients. An extensive evaluation for an alternative aetiological agent was non-contributory. CONCLUSION: We found granulomatous hepatitis in 5 patients following open heart surgery and they were given conventional antituberculous therapy to which they responded. It is possible that in these patients, tuberculosis was re-activated from a dormant focus due to a period of transient immunodeficiency caused by an extracorporeal circulation.

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, ...

Kala-azar [visceral leishmaniasis] in children

Clinical presentations of kala-azar [visceral leishmaniasis] are varied in children and adults. This may at Least initially mimic many tropical and hepatobilliary diseases. This paper is an attempt to see the clinical presentations of kala-azar in children. Eleven cases are analyzed, retrospectively admitted in a pediatric unit of a tertiary care hospital in the southern part of Bangladesh. Fever 91%, Jaundice 55%, splenomegaly 100%, hepatomegaly 91% are common findings. Presence of jaundice and ascites may mimic chronic liver disease which is suspected in 36% in this series. Awareness regarding these uncommon features will help in diagnosis

Infectious diseases presenting by fever and hepatomegaly

The present study included 51 patients presenting by infectious fever and hepatomegaly. They were admitted to Abbassia and Embaba Fever Hospitals. Patients were subjected to careful history, thorough clinical examination, complete blood picture, urine and stool examination, repeated blood, urine and stool cultures during fever spikes. Slide and tube agglutination test for typhoid and brucella fevers. Mononucleosis diseases were diagnosed by Monospot test, Epstein Barr IgM and G, Cytomegalovirus IgM and G and Toxoplasmosis by indirect fluorescent test. Abdominal U.S., C.T scan and bone marrow examination whenever needed. Fifty one cases included 31[61%] bacterial cases, 12 [23%] mononucleosis cases and 8 [16%] parasitic cases. Thirty one bacterial group included 11[35%] brucella cases, 7 [23%] extrapulmonary tuberculosis, 5 [16%] urinary tract infection, 4 [13%] gram negative septicaemia and 4 [13%] deep seated abscesses. Twelve cases of mononucleosis cases included 6 [50%] infectious mononucleosis, 4 [33%] cytomegalovirus and 2 [17%] toxoplasmosis cases. Eight cases of parasitological group included 4 [50%] malaria cases, 2 [25%] fasciola cases, 1 [12.5%] amoebic liver abscess and 1 [12.5%] due to kala azar. Two [4%] cases died in our series; 1 due to gram negative septicaemia and the other due to kala azar. Cases are discussed and interpreted

Manifestaciones iniciales de la infección por el virus de inmunodeficiencia humana en pediatría: premio Doctor Juan Guido Tatá": LIII Congreso Nacional de Pediatría 2007 / Initial manifestations of human immunodeficiency in pediatrics: prize Doctor Juan Guido Tatá: LIII National Congress of Peditrics 2007

La infección VIH en pediatría, muestra diversidad de manifestaciones cuyo reconocimiento permite una precoz aproximación diagnóstica. Determinar las manifestaciones inicieales en pacientes pediátricos con infección VIH. Estudio comparativo y retrospectivo, incluyendo pacientes con infección VIH del Hospital de Niños "J.M de Los Ríos" (Caracas, Venezuela) entre 1987-2006. Los datos fueron obtenidos de la base de datos de la consulta. Según la forma de transmisión del VIH se establecieron dos grupos: vertical y horizontal. Se registró la manifestación inicial y la edad de presentación, así como la edad del diagnóstico VIH. Las frecuencias fueron comparadas por el método chi cuadrado. Se incluyeron 191 pacientes: grupo vertical 80,1 por ciento y grupo horizontal 19,9 por ciento. Del total 5,2 por ciento estaban asintomáticos, 33,5 por ciento tenían manifestaciones inespecíficos, 41,9 por ciento tenían síntomas VIH/no SIDA y 19,4 por ciento tenían síntomas VIH/SIDA. Las manifestaciones más frecuentes fueron: linfadenopatías generalizadas (25 por ciento), hepatomegalia (16,1 por ciento), infecciones respiratorias altas recurrentes y persistentes (15,1 por ciento), infecciones bacterianas severas (18,2 por ciento), diarrea crónica (11,4 por ciento) y esplenomegalia (10,9 por ciento). La edad de la primera manifestación fue de 0,9 ± 0,7 años en el grupo vertical y 5,5 ± 3,9 años en el grupo horizontal. La edad del diagnóstico VIH fue 2,8 ± 2,7 años en el grupo vertical y 7,6 ± 4,9 años en el grupo horizontal. Las manifestaciones inespecíficas fueron las más frecuentes: linfoadenopatías generalizadas, hepatomegalia e infecciones respiratorias altas. Sin embargo, las infecciones bacterianas severas y la diarrea crónica, constituyen manifestaciones relevantes para la sospecha de infección VIH. El diagnóstico se realizó como mínimo 2 años después de la primera manifestación en ambos grupos.

Pediatric HIV infection shows different manifestations whose recognition allows an early diagnostic approach. To determine the initial manifestations in HIV pediatric patients. It was a comparative and retrospective study that included HIV patients who attended to Hospital de Niños “J.M de Los Ríos” (Caracas, Venezuela), between 1987-2006. Data were obtained from HIV consultation Data Base. According to HIV transmission, we established two groups: vertical and horizontal. The initial manifestation and the patient age at that moment were recorded, so was the HIV diagnosis age. The frequencies were compared by square chi method. There were 191 patients: 80,1% in the vertical group and 19,9% in the horizontal one. There were 5,2% of asymptomatic patients, 33,5% had inespecific manifestations, 41,9% had HIV/no AIDS symptoms and 19,4% had HIV/AIDS symptoms. The most frequently seen manifestations were: generalized lymphadenopathy (25%), hepatomegaly (16%), recurrent and persistent upper respiratory tract infection (15,1%), severe bacterial infection (18,2%), chronic diarrhea (11,4%) and splenomegaly (10,9%). The age at the first manifestation was 0,9 ± 0,7 years in the vertical group and 5,5 ± 3,9 years in the horizontal one. The HIV diagnosis age was 2,8 ± 2,7 years in the vertical group and 7,6 ± 4,9 years in the horizontal one. The most frequent manifestations were inespecific: generalized lymphadenopathy, hepatomegaly and upper respiratory tract infection. However, severe bacterial infections and chronic diarrhea are relevant manifestations to suspect HIV infection. HIV diagnosis was done at least two years after the first manifestation in both groups.

Acute T lymphoid and megakaryoblastic bi-lineal leukemia in a child.

A 1 1/2-year-old boy presented with fever, anemia, petechial rash and hepatosplenomegaly. Bone marrow examination showed two morphologically distinct blasts (small and large) which were confirmed on immunophenotyping to be of T-lymphoid and megakaryocytic lineages respectively. Patient was refractory to therapy. This is a rare combination of bi-lineal leukemia in a child.