Cavernoma portal complicada con biliopatía secundario a enfermedad de Gaucher tipo 1: reporte de un caso peruano / Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case

La enfermedad de Gaucher, es un trastorno autosómico recesivo de depósito lisosomal que se caracteriza por deficiencia de la beta-glucocerebrosidasa que lleva a la acumulación de glucosilceramida principalmente en células del sistema fagocítico mononuclear causando afectaciones sistémicas. Se presenta paciente varón de 20 años que cursa con dolor crónico en hipocondrio izquierdo con episodios de sangrados desde hace 3 años y sensación de alza térmica, al examen físico se identificó ictericia y esplenomegalia masiva, sin afectación neurológica. Como apoyo al diagnóstico se mostró osteoporosis severa, pancitopenia y como hallazgo inesperado la presencia de trombosis de vena porta con transformación cavernomatosa complicada con biliopatía portal simulando un tumor de klatskin, los estudios de médula y enzimáticos eran compatibles con enfermedad de Gaucher, por lo cual recibió tratamiento con imiglucerasa realizando seguimiento. Es un caso poco frecuente, de gran interés, heterogeneidad en sus manifestaciones clínicas e inéditas por su complicación, constituyendo un desafío llegar a su diagnóstico de esta enfermedad huérfana.

Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from chronic pain in the left hypochondrium with episodes of bleeding for 3 years and sensation of thermal rise, physical examination revealed jaundice and massive splenomegaly, without neurological involvement. Severe osteoporosis, pancytopenia, and the presence of portal vein thrombosis with cavernomatous transformation complicated by portal biliopathy simulating a klatskin tumor, marrow and enzymatic studies were compatible with Gaucher disease, were shown as unexpected findings. he received treatment with imiglucerase, following up. It is a rare case, of great interest, heterogeneity in its clinical manifestations and unpublished by its complication, constituting a challenge to reach its diagnosis of this orphan disease.

Idiopathic Myointimal Hyperplasia of Mesenteric Veins / 대한소화기학회지

No abstract available.

Idiopathic Phlebosclerotic Colitis: A Rare Entity of Chronic Ischemic Colitis / 대한소화기학회지

Colonic wall thickening is frequently encountered in various conditions, from acute or chronic inflammatory disease to colorectal carcinoma. Colonic wall thickening may be accompanied by calcifications in mucinous adenocarcinoma of the colon, leiomyosarcoma of the colon, schistosomiasis japonica, and phlebosclerotic colitis. Phlebosclerotic colitis is a rare entity of chronic ischemic colitis associated with sclerosis and fibrosis of mesenteric veins. Although its development is usually insidious, and, thus its diagnosis can be delayed, characteristic findings in phlebosclerotic colitis are calcifications of mesenteric veins as well as colonic wall thickening with calcifications. We report on a 71-year-old woman who presented with chronic diarrhea and intermittent hematochezia, who was first misdiagnosed as mucinous adenocarcinoma of the colon, but finally diagnosed as a rare entity of chronic ischemic colitis, phlebosclerotic colitis. Differential points of phlebosclerotic colitis from other diseases, including leiomyosarcoma and schistosomiasis japonica, are also described.

Aneurisma venoso na junção esplenomesentérica e emergência da veia porta: relato de caso / Venous aneurysm at the splenomesenteric confluence at the level of portal vein emergence: a case report

Os aneurismas no sistema esplenoportomesentérico são uma entidade clínica rara e de etiologia desconhecida, tendo como fatores contribuintes hipertensão portal, doença hepática crônica e trauma, entre outros. Os autores apresentam os achados de imagem de um caso de aneurisma na junção esplenomesentérica ao nível da emergência da veia porta, em uma paciente de 62 anos de idade sem fatores predisponentes.

Aneurysms in the splenoportomesenteric system constitute a rare entity whose etiology is still to be determined. Predisponent factors include portal hypertension, chronic hepatic disease and trauma, among others. The authors present a case of an aneurysm at the splenomesenteric confluence where it joins the portal vein, in a female, 62-year-old patient with no predisponent factor.

A Case of Idiopathic Mesenteric Phlebosclerosis / 대한소화기학회지

Idiopathic mesenteric phlebosclerosis, rare disease entity causing chronic mesenteric ischemia is a member of non-thrombotic, non-inflammatory stenosis or occlusion of the mesenteric veins. The histologic hallmark is marked fibrous mural thickening and sclerosis of the vessel wall. It is frequently accompanied by calcification in the vessel wall. We report the case of a 61-year-old woman with idiopathic mesenteric phlebosclerosis. To our knowledge, this is the first case reported in Korea.

A Case of Idiopathic Mesenteric Phlebosclerosis / 대한소화기학회지

Idiopathic mesenteric phlebosclerosis, rare disease entity causing chronic mesenteric ischemia is a member of non-thrombotic, non-inflammatory stenosis or occlusion of the mesenteric veins. The histologic hallmark is marked fibrous mural thickening and sclerosis of the vessel wall. It is frequently accompanied by calcification in the vessel wall. We report the case of a 61-year-old woman with idiopathic mesenteric phlebosclerosis. To our knowledge, this is the first case reported in Korea.

Protein-c deficiency presenting with subacute intestinal obstruction due to mesenteric vein thrombosis.

We describe a patient with protein C deficiency who presented with subacute intestinal obstruction due to ischaemic small bowel stricture. The patient also had left sided ileofemoral thrombosis. Venous thrombosis at unusual sites especially if associated with deep vein thrombosis of lower limb warrants a thorough screen for underlying thrombophilia. This, however, is a rare cause for ischaemic small bowel stricture.

Factor V Leiden is not commonly associated with idiopathic portal vein thrombosis in southern India.

BACKGROUND: Factor V Leiden has been reported in 2%-30% of patients with portal vein thrombosis. This wide variation makes it difficult to assess the importance of factor V Leiden as a predisposing factor. METHODS: Factor V Leiden was determined by restriction fragment length polymorphism in 112 patients with portal vein thrombosis, 104 with deep vein thrombosis and 98 control subjects. RESULTS: Only 3/112 (3%) patients with portal vein thrombosis had factor V Leiden, compared to 1/98 (1%) controls and 16/104 (15%) with deep vein thrombosis; of these, 3, 1 and 15, respectively, were heterozygous for this mutation. CONCLUSION: Factor V Leiden contributes little, if at all, to the development of portal vein thrombosis in southern India.

Hemoperitoneo secundario a la rotura espontánea de la vena mesentérica / Abdominal bleeding due to spontaneous mesenteric vein rupture

La cirrosis hepática es la principal causa de hipertensión portal y se asocia con el desarrollo de venas esplácnicas varicosas. La rotura de várices intraabdominales es una causa rara de hemoperitoneo. Se presenta el caso de hemoperitoneo espontáneo por rotura de vena mesentérica superior varicosa. Caso clínico: varón de 43 años con antecedentes de cirrosis alcohólica (estadio C de Child-Pugh) y múltiples internaciones por hemorragia digestiva variceal. Consulta por episodios sincopales y distensión abdominal. Al examen físico se presento: vigil, orientado, hipotenso, con tilt test positivo, distensión abdominal, estigmas cutáneos de hepatopatía crónica. Laboratorio: anemia, plaquetopenia, rolongación de los tiempos de coagulación. TAC de abdomen: líquido libre en cavidad peritoneal. Laparotomía exploradora: se extraen tres litros de sangre de cavidad abdominal. Se visualiza vena mesentérica superior varicosa con una zona en forma de pezón que muestra punto de sangrado en jet, intermitente. No se evidenció daño de otro órgano. Se procedió a la rafia de la lesión lográndose hemostasia. El paciente evolucionó favorablemente abandonando el hospital 10 días después del ingreso. Objetivo: presentar un paciente con una causa poco común de hemoperitoneo y remarcar la buena evolución, ya que este tipo de patología suele tener alta mortalidad.

Hepatic cirrhosis is the leading cause of portal hypertension and is usually associated with the development of splacnic varices. Variceal intraabdominal rupture is a rare cause of hemoperitoneum. A case of spontaneous mesenteric vein rupture is reported. Clinical case: 43 year old man with hepatic cirrhosis (Child-Pugh C stage) and previous bleeding of esophageal varices, admitted to hospital because of orthostatic hypotension episodes (positive tilt test) and abdominal distention. Laboratory: anemia, low platelet count and abnormal coagulation tests. CT scan showed abdominal fluid. Exploratory laparotomy was performed and 3 liters of blood were found into the abdominal cavity. The mesenteric vein had a ruptured variceal dilatation with intermitent jet bleeding. No organ abnormalities were found. Repair of the dilated vein was performed. The patient evolved well and was dismissed from hospital ten days after admittance. Objective: To present a case in which a rare cause of intraabdominal bleeding, usually associated with high mortality rate, is follawed by a good clinical evolution.

Superior mesenteric vein thrombosis complicating appendicular masses

Mesenteric vein thrombosis [MVT] is rare. Its diagnosis is usually difficult and delayed. Herein, we report 2 patients who developed MVT as a complication of an appendicular mass. One of them had appendectomy and developed fever 10 days postoperatively. The other was treated conservatively. An abdominal computerized tomography [CT] scan with intravenous contrast was helpful in diagnosing the superior MVT in both patients, which were not suspected. Intravenous contrast should be used when performing CT of an appendicular mass. Special interest should be directed at studying the superior mesenteric vein. Early diagnosis of our patients helped to start early medical treatment with anticoagulation

Trombosis venosa mesentérica (TVM) en el puerperio: presentación de dos casos / Mesenteric venous thrombosis during puerperium: presentation of two cases

Se presentan dos casos de TVM en pacientes puérperas. Se hace hincapie en las condiciones favorables para esta patología en este periodo. Se revisa en la literatura su etiología, incidencia, presentación clínica y estudios paraclínicos de utilidad para su diagnóstico. Su tratamiento dependerá de la evolución y si se hace o no el diagnóstico preoperatorio. Si esto se logra, el manejo deberá ser conservado a base de terapia trombolítica y anticoagulante. Si la paciente no responde favorablemente a este tratamiento o presenta datos de irritación peritoneal y/o sepsis, deberá operarse y efectuar las maniobras que dicten los hallazgos quirúrgicos. Con ayuda de la anticoagulación los resultados en cuanto a mortalidad y recurrencia han mejorado. Se insiste en sospechar TVM en pacientes puérperas con un cuadro obstructivo no explicado por otras causas y solicitar ultrasonido, TAC o arteriografía selectiva

Verdades y errores en el diagnóstico tomográfico de las trombosis venosas / Computed tomographic dianosis of the venous thrombosis

El propósito de este trabajo es subrayar los signos de trombosis venosa evidente en los estudios tomográficos, revisando a la vez los posibles errores de diagnóstico y sus causas. Se presentan 10 casos, estudiados por TC en trombosis venosas en diferentes localizaciones. Los signos constantes son:1)aumento del diámetro del vaso afectado; 2)aumento del espesor de su pared, y 3)reforzamiento de la misma al incorporarse el contraste. Los signos más inconstantes son 1)hipodensidad intraluminal correspondiente al trombo en sí mismo; 2)presencia de circulación colateral; 3)manguito de partes blandas perivenoso (periflebitis) y 4)aire en el interior del trombo en el caso de que se trate de un trombo séptico. Esta imagen es independiente del sitio y causa del fenómeno. La TC posee una alta sensibilidad y especificidad en este tipo de patología prácticamente sin diagnósticos diferenciales a tener en cuenta ante imágenes en las cuales se registren los parámetros ya enunciados. La RMI y más recientemente marcación con radioisótopos parecen promisorios, no obstante faltaría agregar experiencia a lo ya elaborado. Por el momento pensamos que la TC cumple en forma eficaz, rápida y poco costosa el objetivo diagnóstico, a lo que se deberá agregar la ventaja del descubrimiento casual del fenómeno en estudios solicitados por otros motivos