Síndrome colestásico como forma de presentación de linfoma no Hodgkin. Reporte de un caso pediátrico / Cholestatic syndrome as a presentation of non-Hodgkin lymphoma. A pediatric case report

La ictericia colestásica se debe a la alteración de la secreción de bilirrubina conjugada; es una de las posibles causas la alteración del flujo biliar por obstrucción de la vía biliar extrahepática. El linfoma es la tercera neoplasia más frecuente en pediatría, mientras que los tumores pancreáticos son poco frecuentes y, en su mayoría, lesiones benignas. Las manifestaciones clínicas de los tumores de localización retroperitoneal son poco específicas y suelen ser tardías, por lo que la sospecha clínica debe ser alta. El objetivo del siguiente trabajo es presentar el caso de un niño de 7 años con síndrome colestásico en el que se halló un tumor en la cabeza del páncreas que comprimía la vía biliar extrahepática. El diagnóstico del tumor fue linfoma no Hodgkin (LNH). Se destaca la infrecuencia de este tumor en esta localización en la edad pediátrica

Cholestatic jaundice is due to an alteration in conjugated bilirubin secretion; a possible cause is an altered bile flow resulting from an obstruction of the extrahepatic bile duct. A lymphoma is the third most common neoplasm in pediatrics, while pancreatic tumors are rare and mostly benign. The clinical manifestations of retroperitoneal tumors are not very specific and are usually late, so a high level of clinical suspicion is required. The objective of this study is to describe the case of a 7-year-old boy with cholestatic syndrome with a tumor in the head of the pancreas compressing the extrahepatic bile duct. The tumor diagnosis was non-Hodgkin lymphoma (NHL). It is worth noting that the presence of a tumor in this location in pediatric age is uncommon

Síndrome de Alagille, reporte de un caso y revisión de la literatura / Alagille Syndrome, case study and literature review / Sindrome de Alagille, relato de caso e revisão de literatura

El síndrome de Alagille es una patología poco frecuente, de herencia autosómica dominante. Se caracteriza por la presencia de colestasis crónica progresiva ocasionada por hipoplasia de las vías biliares; anomalías vertebrales, oculares y cardíacas, y fenotipo facial particular. Entre sus diagnósticos diferenciales se incluyen las infecciones, enfermedades endocrinometabólicas, atresia biliar y causas idiopáticas. El pronóstico de este síndrome es variable y depende de la entidad de la afectación hepática y los defectos cardiovasculares. El abordaje terapéutico suele ser interdisciplinario e individualizado, enfocado en el control sintomático, prevención de la malnutrición y el déficit de vitaminas liposolubles. Se presenta el caso de un lactante de 2 meses en el que se estudiaron las causas más frecuentes de colestasis y se llegó al diagnóstico de síndrome de Alagille. Se describe su abordaje terapéutico y seguimiento.

Alagille syndrome is an inherited autosomal dominant rare disease. It is characterized by the presence of progressive chronic cholestasis caused by hypoplasia of the bile ducts; vertebral, ocular and cardiac anomalies, and particular facial phenotype. Its differential diagnoses include infections, endocrine-metabolic diseases, biliary atresia and idiopathic causes. The prognosis of this syndrome is variable and depends on the degree of liver involvement and cardiovascular defects. The therapeutic approach is usually interdisciplinary and customized, focused on symptomatic control, prevention of malnutrition and fat-soluble vitamin deficiency. We present the case of a 2-month-old infant in whom the most frequent causes of cholestasis were studied and to whom Alagille Syndrome was diagnosed. We hereby describe its therapeutic approach and follow-up.

A síndrome de Alagille é uma doença rara, hereditária, autossômica e dominante. Caracteriza-se pela presença de colestase crônica progressiva causada por hipoplasia das vias biliares; anomalias vertebrais, oculares e cardíacas e fenótipo facial particular. Seus diagnósticos diferenciais incluem infecções, doenças endócrino-metabólicas, atresia biliar e causas idiopáticas. O prognóstico desta síndrome é variável e depende do grau de envolvimento hepático e defeitos cardiovasculares. A abordagem terapêutica geralmente é interdisciplinar e personalizada, focada no controle sintomático, prevenção da desnutrição e deficiência de vitaminas lipossolúveis. Apresentamos o caso de uma criança de 2 meses de idade em que foram estudadas as causas mais frequentes de colestase e a quem foi diagnosticada Síndrome de Alagille. Descrevemos a sua abordagem terapêutica e seguimento.

Effect of transient obstructive cholestasis on liver histology: a cross-sectional study

ABSTRACT BACKGROUND: The role of transient obstructive cholestasis on liver histology remains undetermined. OBJECTIVE: To investigate whether transient cholestasis impairs liver histology. DESIGN AND SETTING: Cross-sectional study at a public university hospital (UNICAMP), Brazil. METHODS: 169 individuals undergoing cholecystectomy, with or without cholestasis. were enrolled. Histopathological findings were correlated with clinical and biochemical characteristics. RESULTS: Biliary hepatopathy was more frequent in individuals with resolved cholestasis than in those with active obstruction or no jaundice (P < 0.01), as also were fibrosis and ductular proliferation (P = 0.02). Cholestasis was commoner in individuals with resolved obstruction than in those with no history (P < 0.01) or active cholestasis (P < 0.05). Biliary hepatopathy was associated with longer duration of cholestasis (P < 0.001) and higher bilirubin levels (P = 0.02) in individuals with active obstruction; with lower body mass index (P = 0.02) and longer cholestasis (P < 0.001) in individuals with resolved obstruction; and with longer cholestasis (P < 0.001) and longer interval between endoscopic retrograde cholangiopancreatography and surgery (P = 0.03) overall. In individuals with active obstruction, duration of cholestasis (R = 0.7; P < 0.001) and bilirubin levels (R = 0.6; P = 0.004) were independently correlated with cholestasis severity. Duration of cholestasis (R = 0.7; P < 0.001) was independently correlated with ductular proliferation severity. CONCLUSIONS: Transient cholestasis was associated with significant histopathological changes, even after its resolution. Longer duration of obstruction correlated with greater severity of histopathological changes, especially cholestasis and ductular proliferation. This emphasizes the need for early treatment of obstructive cholestasis.

Clinical characteristics of Graves / 中南大学学报(医学版)

OBJECTIVES@#A variety of causes can lead to cholestasis, however, cholestasis caused by Graves' disease is usually overlooked clinically. Here we analyze the clinical characteristics of Graves' disease associated cholestasis so as to have a better understanding for the disease.@*METHODS@#We retrospectively collected 13 inpatients' data who suffered from the Graves' disease associated cholestasis in the Department of Infectious Disease of Xiangya Hospital from January 2000 to December 2018. The characteristics of the patients' age, gender, liver function, thyroid function, coagulation function, the special cardiac examination, treatment, and follow-up data were analyzed.@*RESULTS@#Thirteen patients, including 10 males and 3 females with the age range from 33 to 55 (median 43) years old presented cholestasis, pruritus, and hypermetabolic symptoms. The levels of total bilirubin (TBIL), direct bilirubin (DBIL), glutamic-pyruvic transferase, glutamic-oxaloacetic transferase, alkaline phosphosphatase, and gamma glutamyl transpeptidase were 170.4-976.7 (median 388.8) µmol/L, 93.2-418.1 (median 199.2) µmol/L, 25.1-182.1 (median 106.4) U/L, 38.2-265.7 (median 59.7) U/L, 105.3-332.0 (median 184.5) U/L, and 20.7-345.1 (median 47.6) U/L, respectively. The levels of free triiodothyronine (FT@*CONCLUSIONS@#Graves' disease can cause cholestasis, with the low incidence. The symptoms of cholestasis can be improved or even eradicated with the cure of the Graves' disease. The cholestasis may be idiopathic. For patients with cholestasis and hyperthyroidism, Graves' disease should be considered for differential diagnosis.

Cholestasis secondary to hyperthyroidism in Graves disease: report of one case / Colestasia en un paciente con hipertiroidismo por enfermedad de Graves: informe de un caso

ABSTRACT Hyperthyroidism can induce elevation in several liver function tests including aminotransferases, alkaline phosphatases and, less frequently, serum bilirubin. These alterations are usually mild and asymptomatic. We report a 26 year-old male presenting with palpitations, progressive jaundice, choluria and generalized itching. Laboratory tests were compatible with hyperthyroidism and a mild elevation of bilirubin, alkaline phosphatases and gamma glutamyl transpeptidase. A liver biopsy showed portal hepatitis with canalicular cholestasis. The patient was treated temporarily with glucocorticoids, cholestyramine and betablockade. Thereafter, he was treated with radioactive iodine, after which serum bilirubin decreased steadily until normalization in ten weeks.

El hipertiroidismo puede producir elevación de aminotransferasas, fosfatasas alcalinas y, menos frecuentemente, de bilirrubina sérica. Habitualmente, estas alteraciones son leves y asintomáticas. Reportamos un hombre de 26 años con hipertiroidismo secundario a enfermedad de Basedow-Graves, que debutó con un cuadro colestásico, inicialmente estudiado por sospecha de patología hepática autoinmune que incluyó biopsia hepática. Posteriormente, se diagnosticó hipertiroidismo que fue tratado con glucocorticoides, colestiramina y beta bloqueo como puente a terapia definitiva con radioyodo. La evolución mostró disminución progresiva hasta la normalización de bilirrubina sérica.

Cholestatic syndrome as initial manifestation of pancreatic metastasis of papillary thyroid carcinoma: case report and review

SUMMARY Most papillary thyroid carcinomas (PTC) harbor excellent prognosis. Although rare, distant metastases normally occur in lungs and/or bones. Here we describe a rare case of pancreatic metastasis presenting with rapid onset cholestatic syndrome. A literature review was also performed. A 73-year-old man with a high risk PTC was submitted to total thyroidectomy (TT) followed by radioiodine therapy. After initial therapy, he persisted with progressive rising serum thyroglobulin levels but with no evidence of structural disease. Recently, the patient presented with a rapid onset and progressive cholestatic syndrome. A 4 cm lesion in pancreas was identified, with echoendoscopy fine-needle aspiration biopsy (FNAB) confirming a pancreatic metastasis from PTC. The patient was submitted to a successful pancreaticoduodenectomy. Pancreatic metastases of PTC are rare and few long-term follow-up data are available to guide management. Fourteen cases were former reported, mean age was 65.7 years-old with mean time between PTC and pancreatic metastasis diagnosis of 7.9 years. Nine of them had another distant metastasis, nine were diagnosed by FNAB and just two received sorafenib.

Consenso de hiperbilirrubinemia del primer trimestre de la vida / Consensus on hyperbilirubinemia of the first trimester of life

La presencia de ictericia en la etapa neonatal puede responder a diversas causas, desde situaciones fisiológicas hasta enfermedades graves. En los neonatos de término que persisten ictéricos más allá de los 14 días de vida, debe determinarse si la hiperbilirrubinemia es no conjugada o conjugada para establecer, a la brevedad, el plan de estudios etiológicos y la terapéutica correspondiente. La hiperbilirrubinemia conjugada (colestasis) refleja una disfunción hepática en la mayoría de los casos, cuyas consecuencias son alteraciones del flujo biliar secundarias a anormalidades estructurales o moleculares del hígado y/o del tracto biliar.Durante la última década, los nuevos estudios moleculares revolucionaron el abordaje de los pacientes colestáticos, lo que permitió el diagnóstico de diversas entidades genéticas. La etiología de la hiperbilirrubinemia del primer trimestre debe determinarse con urgencia, ya que, en muchos casos, el tratamiento instituido de modo precoz puede modificar sustancialmente la evolución de la enfermedad o salvar la vida del paciente.

Neonatal jaundice may be due to different causes, ranging from physiological conditions to severe diseases. In term neonates with persistent jaundice beyond 14 days of life, it should be determined whether hyperbilirubinemia is unconjugated or conjugated, in order to study the etiology and start early treatment. In the majority of cases, conjugated hyperbilirubinemia (cholestasis) is a sign of liver dysfunction possibly associated with alterations in the bile flow secondary to structural or molecular abnormalities of the liver and/or the biliary tract. Over the past decade, new molecular studies have revolutionized the approach of cholestatic patients, leading to the identification of different genetic entities. It is important to determine the etilogy of neonatal hyperbilirubinemia since in many cases early treatment will substantially improve morbidity and mortality.

Seguridad y eficacia del uso de prótesis metálicas autoexpandibles en el manejo de estenosis malignas de la vía biliar irresecables / Safety and efficacy of the use of self-expanding metal stents in the management of unresectable malignant biliary stenosis

Antecedentes: En los últimos años se ha producido un incremento del uso de prótesis metálicas autoexpandibles (SEMS) en pacientes con estenosis malignas irresecables de la vía biliar. Sin embargo, en Perú no se cuentan con reportes sobre la seguridad y eficacia de este procedimiento. Objetivo: Evaluar la seguridad y eficacia del uso de las SEMS en el manejo paliativo de las estenosis malignas de la vía biliar. Materiales y métodos: Cohorte retrospectiva. Se incluyeron a todos los pacientes referidos para colocación de SEMS biliar como parte de un tratamiento paliativo entre enero del 2016 y agosto del 2018. Se obtuvieron las tasas de colocación exitosa de las SEMS, de paliación adecuada de la obstrucción y de complicaciones asociadas al procedimiento. Se evaluó la patencia de la prótesis durante el seguimiento. Se determinó la supervivencia luego de la colocación de la prótesis. Resultados: Se incluyeron 32 pacientes con indicación de manejo paliativo debido a una estenosis maligna irresecable de la vía biliar. El cáncer de páncreas (56,25%) seguido del colangiocarcinoma (31,25%) fueron las etiologías más frecuentes. Se alcanzó una tasa de colocación exitosa en primera intención de 96,97%. La paliación adecuada de la obstrucción biliar se alcanzó en el 100% de los pacientes (p<0,05). Dos SEMStc migraron durante el seguimiento (6,25%) siendo manejados con la colocación de una nueva SEMSnc. Conclusiones: La colocación de SEMS constituye una estrategia segura, con alta tasa de éxito terapéutico en el manejo paliativo de los pacientes con obstrucción maligna de la vía biliar.

Background: In recent years there has been an increase in the use of self-expanding metallic stents (SEMS) in patients with unresectable malignant stenosis of the bile duct. However, in Peru there are no reports on the safety and efficacy of this procedure. Objective: To evaluate the safety and efficacy of the use of SEMS in the palliative management of malignant stenosis of the bile duct. Materials and methods: Retrospective cohort. All patients referred for placement of biliary SEMS as part of a palliative treatment between January 2016 and August 2018 were included. Rates of successful placement of SEMS, adequate palliation of the obstruction, and complications associated with the procedure were obtained. The patency of the prosthesis was evaluated during follow-up. Survival was determined after placement of the prosthesis. Results: We included 32 patients with indication of palliative management due to an unresectable malignant stenosis of the bile duct. Pancreatic cancer (56.25%) followed by cholangiocarcinoma (31.25%) were the most frequent etiologies. A successful first-time placement rate of 96.97% was achieved. Adequate palliation of biliary obstruction was achieved in 100% of patients (p<0.05). Two SEMStc migrated during follow-up (6.25%) being managed with the placement of a new SEMSuc. Conclusions: The placement of SEMS is a safe and effective therapeutic strategy in the palliative management of patients with malignant obstruction of the biliary tract.

Síndrome de Alagille / Alagille syndrome

Resumen Introducción: El síndrome de Alagille es una enfermedad con múltiples afectaciones, es autosómica dominante, con expresividad variable. Se identifica por manifestaciones hepáticas, vertebrales, cardiacas, oculares y dismorfia facial. Objetivo: Reportar un caso de S. de Alagille con afectación hepática, que debuta con hemorragia de vías digestivas altas. Materiales y métodos: Reporte de caso clínico confrontando con artículos de revisiones de temas en búsqueda electrónica en bases de datos de RIMA, MEDLINE, PUBMED, MEDSCAPE, de 1993-2018. Resultado: Paciente de 2 años, con diagnóstico tardío de enfermedad hepática, con progresión a cirrosis y hallazgos al examen físico que confirman Síndrome de Alagille. Se confirma el diagnóstico molecular coincidiendo con el principal hallazgo genético con anomalías asociadas al gen Jagged 1 (JAG1) localizado en el cromosoma 20 y el NOTCH2 del cromosoma 1. Conclusiones: Es de gran importancia resaltar esta patología infrecuente la cual representa un reto diagnóstico, debe tenerse en cuenta la múltiple afectación orgánica por lo cual es fundamental un manejo interdisciplinario

Abstract Introduction: Alagille syndrome is a disease with multiple impairments, is autosomal dominant with variable expressivity. It is identified by manifestations of vertebral, liver, heart, eye and facial dysmorphia. Objective: Report a case of Alagille S. with hepatic involvement, debuting with hemorrhage of upper digestive tract. Materials and methods: Clinical case report confronting articles reviewing subjects in electronic search in RIMA databases, MEDLINE, PUBMED, MEDSCAPE, from 1993-2018. Result: 2 year old patient, with late diagnosis of liver disease, with progression to cirrhosis and physical exam findings that confirm Alagille Syndrome. Confirmed the diagnostic molecular coinciding with the main genetic finding which are anomalies associated with the gene Jagged 1 (JAG1) located on chromosome 20 and the NOTCH2 of chromosome 1. Conclusions: It is important to highlight this uncommon disease which poses a diagnostic challenge, multiple organic involvement must be taken into account by which an interdisciplinary management is essential.

Síndrome de interrupción del tallo pituitario: Relaciones clínicas, bioquímicas y neurorradiológicas / Pituitary stalk interruption syndrome: Clinical, biochemical and neuroradiological relationships

El síndrome de interrupción del tallo pituitario (PSIS) se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica o neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito (HPC), asociado a múltiples deficiencias de hormonas pituitarias (MPHD). Evaluamos a pacientes con HPC y PSIS, analizando los signos y los síntomas neonatales al diagnóstico, relacionándolos con las deficiencias hormonales pituitarias y signos neurorradiológicos presentes. Estudiamos retrospectivamente a 80 pacientes asistidos en el Hospital de Niños de Córdoba, con diagnóstico de HPC, de los cuales 42 (52%) presentaron PSIS; 22 mujeres y 20 varones, EC: 5 días-9,5 años. El 62% presentó MPHD y el 38% insuficiencia somatotrófica aislada (IGHD). El análisis de las variables perinatales demostró antecedentes de parto natural en el 52% (11/21) de las MPHD vs. 13% (2/15) de las IGHD. Cuatro pacientes, 2 con MPHD y 2 con IGHD presentaban antecedentes obstétricos consistentes en presentación podálica y transversa respectivamente, todos ellos resueltos mediante operación cesárea. Los signos y los síntomas perinatales fueron hipo- glucemia: 61% en MPHD vs. 19% en IGHD, p: 0,0105; ictericia: 38% en MPHD vs. 25% en IGHD; micropene: 77% en MPHD y colestasis: 19% en MPHD. Convulsiones neonatales se presentaron en el 75% de los niños con MPHD e hipoglucemia. EC media de consulta: 2,1 años en MPHD (30% en el período neonatal, 70% antes de 2 años) y 3,6 años en IGHD (44% en menores de 2 años). Los pacientes con MPHD presentaban: tallo no visible 81% (n: 21/26) vs. tallo hipoplásico: 19% (n: 5/26), p: 0,0001; en IGHD 56% (n: 9/16) vs. 44% (n: 7/16), p: 0,5067, respectivamente. El 100% de los neonatos con HPC tenían tallo pituitario ausente. Concluimos que la demostración de PSIS en niños con HPC proporciona información valiosa como predictor de la severidad fenotípica, la presencia de MPHD y de la respuesta al tratamiento. La baja frecuencia de antecedentes obstétricos posicionales potencialmente distócicos, como parte de los mecanismos fisiopatogénicos responsables de PSIS, indicaría la necesidad de analizar la importancia de posibles factores genéticos y epigenéticos involucrados. El diagnóstico precoz de HPC debe sospecharse en presencia de signos y síntomas clínicos, tales como hipoglucemia, colestasis, micropene y defectos asociados en la línea media facial. La resonancia magnética cerebral debe formar parte de los estudios complementarios en pacientes con esta presunción diagnóstica, especialmente a edades tempranas. El reconocimiento tardío de esta entidad puede aumentar la morbilidad y la mortalidad con efectos potenciales deletéreos y permanentes.

Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical signs and symptoms present at early life stages, as well as an analysis of their relationship with hormone laboratory tests and diagnostic imaging in children with congenital hypopituitarism (CHP), and PSIS. This study was performed in a single centre on a sample of 42 children out of a total of 80 CHP patients, with a chronological age range between 5 days and 9.5 years from a database analysed over a period of 26 years. The study included 26/42 (62%) with CPHD and 16/42 (38%) with IGHD. The analysis of perinatal variables showed a natural delivery in 52% (11/21) of CPHD vs 13% (2/15) of IGHD. Four patients, two with CPHD and two IGHD had breech and transverse presentation respectively. All of them were resolved by caesarean section. The perinatal histories showed hypoglycaemia (61% CPHD vs 19% IGHD, P=.0105), jaundice (38% CPHDvs25% IGHD), micropenis (75%CPHD), hypoglycaemic seizures (75% CPHD), and cholestasis (19% CPHD). The mean CA of consulting for CPHD patients was 2.1 years, 30% in neonatal period and 70% before 2 years. The mean chronical age (CA) was 3.6 years in IGHD patients, with 44% of them less than 2 years. MRI showed that 81% of CPHD patients had absence of pituitary stalk vs 19% with thin pituitary stalk (P=.0001); Patients with IGHD presented 56% absence of pituitary stalk vs 44% with thin pituitary stalk (P=.5067). All (100%) of the patients diagnosed in the neonatal stage had absent pituitary stalk. The characterisation of GH deficient patients by presence and type of hypothalamic-pituitary imaging abnormality provides valuable information as a predictor of phenotypic severity, treatment response, and the potential to develop additional hormonal deficiencies. We conclude that demonstrating PSIS in children with HPC provides valuable information as a predictor of phenotypic severity, presence of MPHD, and response to treatment. The low frequency of potentially dysfunctional positional obstetric history, as part of the pathophysiological mechanisms responsible for PSIS, would indicate the need to analyse the importance of possible genetic and epigenetic factors involved. Early diagnosis of HPC should be suspected in the presence of clinical signs and symptoms, such as hypoglycaemia, cholestasis, micropenis, and associated facial midline defects. MRI should be part of complementary studies in patients with this diagnostic suspicion, especially at an early age. Late recognition of this entity may increase morbidity and mortality with potential permanent deleterious effects.

Percutaneous transbiliary biopsy / Biópsia percutânea transbiliar

ABSTRACT Percutaneous drainage of the bile ducts is an established procedure for malignant obstructions, in which a histological diagnosis is often not obtained. We describe the biopsy technique of obstructive lesions through biliary drainage access, using a 7F endoscopic biopsy forceps, widely available; some are even reusable. This technique applies to lesions of the hepatic ducts, of the common hepatic duct and of all extension of the common bile duct.

RESUMO A drenagem percutânea das vias biliares é um procedimento estabelecido para obstruções malignas, nos quais, muitas vezes, não se consegue um diagnóstico histológico. Descrevemos a técnica de biópsia da lesão obstrutiva através do acesso de drenagem biliar, utilizando um fórcipe de biópsia endoscópica 7F, amplamente disponível e alguns reutilizáveis. Esta técnica aplica-se a lesões dos ductos hepáticos, do hepático comum e de toda extensão do colédoco.

Síndrome de artrogriposis, disfunción tubular renal y colestasis: causa de colestasis neonatal. A propósito de un caso / Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.

Incidence and risk factors of parenteral nutrition-associated cholestasis in Omani neonates single centre experience

Parenteral nutrition-associated cholestasis [PNAC] is one of the most challenging complications of prolonged parenteral nutrition [PN] in neonates. There is a lack of research investigating its incidence in newborn infants in Oman and the Arab region. Therefore, this study aimed to assess the incidence of PNAC and its risk factors in Omani neonates. This retrospective study took place between January and April 2014. All neonates who received PN for >/=14 days during a four-year period [June 2009 to May 2013] at the neonatal intensive care unit [NICU] in Sultan Qaboos University Hospital, Muscat, Oman, were enrolled. A total of 1,857 neonates were admitted to the NICU over the study period and 135 neonates [7.3%] received PN for >/=14 days. Determining the incidence of PNAC was only possible in 97 neonates; of these, 38 [39%] had PNAC. The main risk factors associated with PNAC were duration of PN, duration of enteral starvation, gastrointestinal surgeries, blood transfusions and sepsis. Neonates with PNAC had a slightly higher incidence of necrotising enterocolitis in comparison to those without PNAC. This study found a PNAC incidence of 39% in Omani neonates. There were several significant risk factors for PNAC in Omani neonates; however, after logistic regression analysis, only total PN duration remained statistically significant. Preventive strategies should be implemented in NICUs so as to avoid future chronic liver disease in this population

Triple-Tissue Sampling during Endoscopic Retrograde Cholangiopancreatography Increases the Overall Diagnostic Sensitivity for Cholangiocarcinoma

BACKGROUND/AIMS: There are several methods for obtaining tissue samples to diagnose malignant biliary strictures during endoscopic retrograde cholangiopancreatography (ERCP). However, each method has only limited sensitivity. This study aimed to evaluate the diagnostic accuracy of a combined triple-tissue sampling (TTS) method (on-site bile aspiration cytology, brush cytology, and forceps biopsy). METHODS: We retrospectively reviewed 168 patients with suspicious malignant biliary strictures who underwent double-tissue sampling (DTS; n=121) or TTS (n=47) via ERCP at our institution from 2004 to 2011. RESULTS: Among the 168 patients reviewed, 117 patients (69.6%) were eventually diagnosed with malignancies. The diagnostic sensitivity for cancer was significantly higher in the TTS group than the DTS group (85.0% vs 64.9%, respectively; p=0.022). Furthermore, the combination of brush cytology and forceps biopsy was superior to the other method combinations in the DTS group. With respect to cancer type (cholangiocarcinoma vs noncholangiocarcinoma), interestingly, the diagnostic sensitivity was higher for cholangiocarcinoma in the TTS group than the DTS group (100% vs 69.4%, respectively; p<0.001) but not for the non-cholangiocarcinoma patients (57.1% vs 57.1%, respectively). CONCLUSIONS: TTS can provide an improved diagnostic accuracy in suspicious malignant biliary strictures, particularly for cholangiocarcinoma.

Vanishing bile duct syndrome in a Hodgkin's lymphoma patient with fatal outcome despite lymphoma remission

Vanishing bile duct syndrome [VBDS] is a condition resulting from severe bile duct injury, progressive destruction, and disappearance of intrahepatic bile ducts [ductopenia] leading to cholestasis, biliary cirrhosis, and liver failure. VBDS can be associated with a variety of disorders, including Hodgkin's lymphoma [HL]. We describe a 33-year-old male patient who presented with lymphadenopathy and jaundice, and was diagnosed to have HL. Serum bilirubin worsened progressively despite chemotherapy, with a cholestatic pattern of liver enzymes. Diagnosis of VBDS was established on liver biopsy. Although remission from HL was achieved, the patient died of liver failure. Presence of jaundice in HL patients should raise the possibility of VBDS. This report discusses the difficulties of delivering chemotherapy in patients with liver dysfunction. HL-associated VBDS carries a high mortality but lymphoma remission can be achieved in some patients. Therefore, liver transplantation should be considered early in these patients.

Colangitis secundaria a espirales metálicos emigrados al conducto biliar / [Cholangitis secondary to migrated metallic coils in the common bile duct].

Biliary obstructions are infrequently caused by foreign bodies. We present an unusual case of angiographically placed metallic coils into the intrahepatic arteries to provide hemostasis, that subsequently eroded into the common bile duct leading to obstructive jaundice and cholangitis a year later. In patients with history of invasive procedures, the possibility of foreign body migration into the common bile duct should always be considered in the differential diagnosis of obstructive jaundice and cholangitis.