Lóbulo hepático de Riedel, una falsa hepatomegalia / Riedel's lobe, a false impression of hepatomegaly

La hepatomegalia es un signo clínico relativamente frecuente en la exploración del paciente pediátrico. Esta puede ser la manifestación de una hepatopatía o de un trastorno sistémico con afectación hepática. Una variante de la normalidad del lóbulo hepático derecho es el llamado lóbulo de Riedel, que en ocasiones puede interpretarse como una hepatomegalia. Estas personas están asintomáticas y no presentan signos clínicos ni analíticos de hepatopatía. Se presenta el caso de un niño de 4 años en el que se encuentra, de forma casual, una hepatomegalia radiológica (AU)

Hepatomegaly is a relatively frequent clinical sign in the examination of the pediatric patient. This may be due to a hepatic disease or a generalized disease with hepatic involvement. A variant of the normal right hepatic lobe is the called Riedel´s lobe, which can sometimes be interpreted as hepatomegaly. These patients are asymptomatic and have no clinical or laboratory signs of the liver disease. We present the case of a 4-year-old boy in whom a radiological hepatomegaly was found by chance. (AU)

Hepatomegalia, polifagia e hipertransaminasemia / Large liver, polyphagia and hipertransaminasemia

La glucogenosis es una enfermedad metabólica poco frecuente, producida por un trastorno del metabolismo de los hidratos de carbono. Existen múltiples variantes en función de la enzima implicada, la tipo 9 se produce por una deficiencia de la glucógeno desfoforilasa-cinasa a nivel hepático y se caracteriza por la presencia de hepatomegalia, hipertransaminasemia e hipoglucemia con el ayuno. Se presenta el caso de una lactante de 10 meses, cuyos síntomas guías fueron la distensión abdominal y la hiperfagia. El diagnóstico de glucogenosis se confirmó mediante el estudio genético, objetivándose una mutación en el gen PHKG2, compatible con el diagnóstico de enfermedad de almacenamiento de glucógeno tipo 9C. Se instauró tratamiento sintomático, evitando el ayuno y aumentando la ingesta hidratos de carbono de absorción lenta, con buena evolución clínica

Glycogenesis is a rare metabolic disease caused by a carbohydrate metabolism disorder. There are multiple variants depending on the enzyme involved. Type 9 is produced by a deficiency of glycogen defoforilase-kinase in the liver and is characterized by the presence of hepatomegaly, hypertransaminasemia and hypoglycemia during fasting. We describe the case of a 10-month-old girl, whose guiding symptoms were abdominal distention and hyperphagia. The diagnosis of glycogenosis was confirmed by genetic study, observing a mutation in the PHKG2 gene, compatible with the diagnosis of type 9C glycogen storage disease. Symptomatic treatment was established, avoiding fasting and increasing the intake of slowly absorbing carbohydrates, with good clinical evolution

Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática / Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction

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Severe intrahepatic cholestasis as the initial manifestation of light chain amyloidosis / Colestasis intrahepática grave como manifestación inicial de la amiloidosis por depósito de cadenas ligeras

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Hepatomegalia masiva y exantema como manifestación de infección connatal / Massive hepatomegaly and skin rash as manifestations of congenital infection

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Chediak-Higashi syndrome: Lessons from a single-centre case series

Background: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS. Methods: Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described. Results: A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0-5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6-6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0-5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8-22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT. Conclusion: Thirty years of follow up showed an improvement in the prognosis in patients with CHS. The better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. BMT is the only treatment that can change CHS prognosis, which emphasizes the need for early identification of the disease

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Nódulos pulmonares a estudio / Study Revealing Pulmonary Nodules

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Paracentesis como tratamiento descompresivo abdominal en neuroblastoma MS con hepatomegalia masiva / No disponible

El neuroblastoma MS (o 4S según la nomenclatura clásica) con hepatomegalia masiva supone un mínimo porcentaje de los casos de neuroblastoma. Es más frecuente en lactantes de menos de 4-6 semanas de vida, y conlleva, al contrario que la norma del NB MS, mal pronóstico dadas las complicaciones que puede tener. En caso de síndrome compartimental abdominal se aconseja inicio rápido de tratamiento quimioterápico, asociando o no radioterapia para intentar reducir el tamaño del hígado, y en caso de ser necesario, laparotomía descompresiva. Presentamos el caso de una paciente con NB MS, hepatomegalia masiva y síntomas amenazantes para la vida, en la que la actitud quirúrgica que consiguió aliviar el síndrome de compresión intraabdominal consistió únicamente en paracentesis evacuadora

Neuroblastoma MS with massive hepatomegaly is a small percentage of cases of neuroblastoma. It is more common in infants less than 4-6 weeks of life, and involves, in contrast to the standard of the NB MS, poor prognosis given the complications that can have. In the case of abdominal compartment syndrome it is recommended a quick start of chemotherapy, associating or not radiation therapy, to try to reduce the size of the liver, and if necessary, decompressive laparotomy. We present the case of a patient with NB MS, massive hepatomegaly and threatening symptoms for life, in which the surgical attitude that got relieve intra-abdominal compression syndrome consisted just in an evacuating paracentesis

Una causa inusual de fallo hepático agudo: infiltración tumoral por carcinoma neuroendocrino / An unusual cause of acute liver failure: Tumour infiltration by neuroendocrine carcinoma

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Hipertensión portal secundaria a hemangiomatosis hepática múltiple / Portal hypertension secondary to multiple hepatic hemangiomatosis

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Shunt intrahepático portocava en paciente con quiste hidatídico que comprime vena cava inferior / An intrahepatic cavoportal collateral pathway due to a liver hydatid cyst obstructing the inferior vena cava

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Hidatidosis hepática / Hepatic hydatid disease

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Glucogenosis hepática diabética: un nuevo reto diagnóstico / Hepatic glycogenosis: a diagnostic challenge

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A bronchobiliary fistula due to a giant hydatid cyst

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Un caso infrecuente de sudoración nocturna / A rare case of night sweats

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Evolución inusual de fiebre Q. A propósito de un caso / Unusual evolution of Q fever. Case report

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Afectación hepática de paciente portadora en heterocigosis de una mutación en el gen PHKA / Hepatic involvement in a female carrier heterozygous for a mutation in the PHKA2 gene

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Sarcoidosis hepática aislada, una forma de presentación inusual de una enfermedad sistémica / Isolated hepatic sarcoidosis, an unusual form of presentation of a systemic disease

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