Ileítis como presentación de linfoma en síndrome de Wiskott-Aldrich / Ileitis as presentation of lymphoma in Wiskott-Aldrich syndrome

El síndrome de Wiskott-Aldrich (SWA) es un raro síndrome de inmunodeficiencia primaria ligado al cromosoma X que se asocia con aumento de incidencia de infecciones, trastornos autoinmunes y neoplasias. Se presenta el caso de un varón de 41 años con diagnóstico de síndrome de Wiskott-Aldrich y cuadro de ileítis como forma de presentación de un síndrome linfoproliferativo. La ileítis, en el contexto del paciente, representa un problema clínico dado el gran número de diagnósticos diferenciales (enfermedad inflamatoria intestinal, infecciones, neoplasias y enfermedades linfoproliferativas) por lo que suele requerir diagnóstico anatomopatológico y consideraciones particulares respecto al posterior tratamiento específico.

Wiskott-Aldrich syndrome is a rare X chromosome-linked primary immunodeficiency syndrome associated with an increased incidence of infections, autoimmune disorders and neoplasms. We present the case of a 41-year-old man with a diagnosis of Wiskott-Aldrich syndrome with ileitis as a form of presentation of a lymphoproliferative syndrome. The ileitis, in the context of the patient, represents a clinical challenge given the large number of differential diagnoses (inflammatory bowel disease, infections, neoplasms and lymphoproliferative diseases), so it usually requires anatomopathological diagnosis and particular considerations regarding the subsequent specific treatment.

Cistoadenoma mucinoso de la válvula ileocecal: tumoración intestinal infrecuente en un niño de 1 año. Reporte de caso / Mucinous cystadenoma of the ileocecal valve. Uncommon intestinal tumor in a oneyear-old boy. Case report

RESUMEN El cistoadenoma mucinoso se encuentra usualmente en el ovario, páncreas y el apéndice, pero su presentación en el intestino es extremadamente rara. En este reporte de caso, presentamos a un niño con obstrucción parcial intestinal debido a un cistoadenoma mucinoso en la válvula ileocecal. En la cirugía se retiró el íleo terminal, válvula ileocecal, ciego y apéndice, seguido de anastomosis ileocecal. El paciente evolucionó favorablemente en el postoperatorio y se recuperó sin contratiempos. A nuestro entender, este es el primer reporte de presentación de este tumor en dicha localización.

ABSTRACT Mucinous cystadenoma is usually found in the ovary, pancreas and appendix but its presentation in the intestine is extremely rare. In this case report we present an infant with partial intestinal occlusion due to a mucinous cystadenoma of the ileocecal valve. We performed an excision of the terminal ileum, ileocecal valve, cecum and appendix, followed by ileocolic anastomosis. The patient did well after the procedure and recovered uneventfully. To our knowledge, this is the first case report of this tumor in this location.

Tumores primarios del yeyuno-íleon: correlación clínico-patológica / Jejunoileal primary tumors: experience in 24 patients

Background: Short bowel tumors correspond to 2 percent of gastrointestinal tract tumors and are the third cause of bowel obstruction. Aim: To perform a clinico-pathological correlation of jejunoileal tumors. Patients and Methods: Retrospective revision of medical records of patients operated for a primary jejunoileal tumor in a period of 17 years, excluding duodenal tumors. Results: Twenty four patients were identified, seven had gastrointestinal stromal tumors (GIST), six had a carcinoid tumor and five had lymphomas. GIST predominantly involved distal jejunum and proximal ileum, while carcinoid tumors and lymphomas tended to involve the distal ileum. The main clinical presentation of GIST was gastrointestinal bleeding. Carcinoid tumors presented mostly as bowel occlusion and lymphomas as bowel perforation. Benign lesions tended to present as intussusception. CAT scan and CAT enteroclysis allowed the preoperative diagnosis in 20 patients. Immunohistochemistry was relevant for the pathological diagnosis and radical surgery was the basis of treatment. Prognosis depended on the pathology of the tumor, the degree of malignancy and the tumor stage at the moment of diagnosis. Conclusions: Excluding duodenum, GIST and carcinoid tumors account for 65 percent of primary malignant tumors of jejunum and ileum. Some clues for the diagnosis can be obtained from the clinical picture of the patients.

Objetivo: Establecer una correlación clínico-patológico de los tumores primarios de yeyuno e íleon (Y-I). Pacientes y Método: Revisión retrospectiva que incluye todos los pacientes intervenidos por un tumor primario de Y-I, con exclusión de los tumores de duodeno, en un período de 17 años. Resultados: 24 pacientes, destacando 7 tumores GIST, 6 carcinoides y 5 linfomas. Predominio de sexo masculino (20/4), distribución por edad variable según el tipo de tumor (promedio 55,5 años en los GIST, 64 años en los tumores carcinoides y 50 años en los linfomas). Es llamativo el compromiso del yeyuno y de íleon proximal de los GIST, mientras que los tumores carcinoides y el linfoma afectan de preferencia al íleon terminal. En la presentación clínica predomina la hemorragia digestiva en los GIST, la obstrucción intestinal incompleta en los carcinoides, la perforación en los linfomas, la obstrucción aguda en los adenocarcinomas y la intususcepción en las lesiones benignas. La tomografía computada (TC) y la enteroclisis por TC permitió el diagnóstico preoperatorio en 20 pacientes. La inmunohistoquímica (IHQ) es relevante en el diagnóstico histopatológico de certeza y la cirugía radical con R0 es la base del tratamiento de estas lesiones. El pronóstico depende del tipo histológico, el grado de malignidad y la etapa al momento del diagnóstico. Excluyendo el duodeno, el GIST y los tumores carcinoides representan más de la mitad del global y el 65 por ciento de las neoplasias malignas primarias que afectan el segmento Y-I. Conclusión: A pesar de la rareza y de la heterogeneidad de estos tumores, es posible reconocer una correlación clínico patológica útil en el manejo quirúrgico de los tumores primarios de Y-I.

Ileal perineurioma as a cause of intussusception / Perineurioma ileal como uma causa de intussuscepção

CONTEXT: Perineuriomas are rare tumors composed of cells resembling those of the normal perineurium. It usually occurs in subcutaneous, soft-tissue or intraneural locations. Very few reports in the literature have described perineuriomas in the gastrointestinal tract, including the stomach, colon and jejunum. CASE REPORT: We report the clinicopathological and immunohistochemical features of a case of ileal perineurioma that was manifested clinically as intestinal obstruction due to intussusception. Ileal perineurioma has not previously been reported at this anatomical location.

CONTEXTO: Perineurioma é uma rara neoplasia composta de células que lembram aquelas do perineuro normal e geralmente ocorre no subcutâneo, tecidos moles ou em localização intraneural. Poucos relatos na literatura descrevem perineuriomas no trato gastrointestinal incluindo estômago, cólon e jejuno. RELATO DE CASO: Os autores apresentam as características clinicopatológicas e imunoistoquímicas de um caso de perineurioma ileal apresentando-se clinicamente por obstrução intestinal decorrente de intussuscepção. Perineurioma ileal não havia sido descrito até o momento nessa localização anatômica.

Small bowel obstruction by a terminal ileum carcinoid tumor: a case report

Carcinoid tumors are well differentiated neuroendocrine tumors with secretory components. These tumors are uncommon but the most common primary tumors of the distal small intestine. We present a rare terminal ileum carcinoid tumor presenting with a small bowel obstruction. A 65 years old man presented with intermittent, generalized, dull and colicky abdominal pain accompanied with intermittent nausea, fever and chills for 1 year and post prandial generalized colicky abdominal pain from 5 days prior to admission. He also complained of weight loss and frequent constipations during recent year. His abdomen was soft with mild tenderness in periumbilical, right lower quadrant and left lower quadrant without guarding, rebound tenderness and palpable mass. Laboratory findings indicated anemia, and barium enema showed right lower quadrant mass effect in small intestine. Narrowing of terminal ileum was noted in colonoscopy. Free fluid in lower abdomen and pelvis with 37*28*25 paravertebral hypoechoic pelvic mass, without peristalsis was seen in abdomen and pelvic sonography. After mass localization in abdominal CT scan, laparotomy and excisional biopsy was performed. The diagnosis of carcinoid tumor was confirmed by pathologic report. Carcinoid tumors are rare tumors of the Gastro intestinal tract, however, they are the most common primary tumors of the small intestines. Most of these tumors have a very indolent course and may present with non specific symptoms. In view of the poor prognosis associated with the late diagnosis, it is imperative to think of this differential diagnosis in patients presenting with non specific symptoms and in intermittent partial bowel obstruction

Adenocarcinoma en duplicación intestinal del íleon: Caso clínico / Adenocarcinoma and intestinal duplication of the ileum: Report of one case

Gastrointestinal duplications are uncommon developmental abnormalities that occur anywhere along the gastrointestinal tract. We report a 36 year-old female admitted to the emergency room due to abdominal pain. Computed abdominal tomography demonstrated small bowel ¡oops surrounding a tubular cystic structure and peritoneal free fluid. The surgical exploration revealed multiple malignant implants covering the visceral and parietal peritoneum and infiltrating completely the omentum. At the Heal mesentery we found a tubular cystic whitish tumor measuring 12 cm of diameter and 15 cm on length. A complete resection of the tumor was not considered an option due to the extensive peritoneal dissemination. Thirty-four days after the operation the patient died. The histopathology of the cystic wall was compatible with the architecture of intestinal wall extensively infiltrated by a moderately differentiated mucinous adenocarcinoma; a mucosal lining in parts atrophic and in parts infiltrated or replaced by adenocarcinoma was observed. A well structured muscular layer was recognized, and the myenteric plexus was identified.

Sarcoma histiocítico de intestino delgado: Reporte de un caso y revisión de la literatura / Histiocytic sarcoma of the small intestine: Report of one case

Histiocytic sarcoma (HS) is a rare malignant neoplasm of the lymphohematopoietic system, that occurs in lymph nodes, skin and at extranodal sites, particularly the gastrointestinal tract. Although it shows characteristics histoiogical and immunohistochemical features, it may be misdiagnosed. We report a 67 year-old female patient presenting with colicky abdominal pain and vomiting. A CT sean of the abdomen revealed a tumor in the ileum, that was surgically removed. On pathology, the neoplastic cells displayed large abundant eosinophilic cytoplasm, with bizarre-shaped nuclei, that expressed CD 45, CD 68 and lisozyme. The diagnosis of HS requires the use of a panel of immunohistochemical markers and may be supported by ultrastructural findings .

Malignant gastrointestinal stromal tumor of intestine: a case report.

Smooth muscle tumors of the alimentary tract are uncommon.Cancer of small intestine comprises less than 20% of all malignant tumors. A 65-year-old male patient was admitted with complain of pain in abdomen since 7 days. He was diagnosed as a case of acute intestinal obstruction and on laparotomy an extraluminal mass was found at jejunoileal junction. Histopathology revealed a malignant gastrointestinal stromal tumor (GIST) which was confirmed by immunohistochemistry. The case is reported with review of literature and criteria for differentiation between benign and malignant tumors are enumerated.

Synchronous carcinoid tumour of the small intestine and appendix in the same patient / Tumor carcinoide sincrónico del intestino delgado y el apéndice en el mismo paciente

Carcinoid tumours have been reported in a wide range of organs but most frequently involve the gastrointestinal tract. Many of these carcinoid tumours are associated with metachronous and synchronous lesions of another histological type. Primary carcinoid tumours of the different organ in the same patient is rare. In this paper, the authors present a case with synchronous carcinoid tumour of the small intestine and appendix in the same patient.

Se han reportado tumores carcinoides en una amplia variedad de órganos, pero el lugar de detección más frecuente ha sido el tracto gastrointestinal. Muchos de estos tumores carcinoides se hallan asociados con lesiones metacrónicas y sincrónicas de otro tipo histológico. La presencia de tumores carcinoides primarios de un órgano diferente en el mismo paciente es rara. En este trabajo, los autores presentan un caso con tumores carcinoides sincrónicos del intestino delgado y el apéndice en el mismo paciente.

Adenocarcinoma of ileum: a cause of intestinal obstruction

Small bowel malignancy is a rare cause of intestinal obstruction. We report the case of a thirtyfive-years old male who presented to us with one and a half-month's history of recurrent abdominal pain associated with vomiting, abdominal distension and constipation. On admission, he was diagnosed to have acute distal small bowel obstruction, which required surgical intervention. Exploration revealed a mass in the terminal ileum. Ileal resection and ileocolic anastomosis was done. Postoperative recovery was uneventful. Histopathology revealed adenocarcinoma involving the full thickness of the wall

A Case of Linitis Plastica Involving the Entire Colon, Ileum, and Appendix / 대한소화기학회지

Linitis plastica of the colon is an uncommon presentation of primary colorectal cancer. This entity of colorectal cancer is characterized by a diffuse infiltrating tumor with desmoplastic reaction and poor prognosis. Although widespread infiltration is the main feature of linitis plastica, the tumor extending to more than 2 segments of the colon is uncommon. We report a case of primary linitis plastica involving the entire colon, ileum and appendix. The clinical characteristics are discussed with a review of literatures.

Anemia ferropénica debida a tumor del estroma de localización ileal / Iron deficiency anemia due to stromal tumor of the ileum

La anemia ferropénica ocurre en el 3,5% al 5,3% de los varones adultos y de las mujeres menopáusicas. La pérdida digestiva crónica es la causa en la mayoría de los casos. Cinco a 20% de los pacientes quedan sin diagnóstico tras haberse descartado por estudios endoscópicos lesiones en el colon y en el tracto digestivo superior. En el intestino delgado, las angiodisplasias y los tumores son las causas más frecuentes de sangrado intestinal oculto. Su diagnóstico requiere la realización de estudios complejos con bajo rendimiento que necesariamente hay que instrumentar en los casos anemia ferropénica.

Malignancy risk prediction for primary jejunun-ilear tumors

This work is aimed at identifying factors associated with primary jejunum-ileal tumors malignancy, defining a prediction model with sensitivity, specificity and accuracy to distinguish malign from benign neoplasms. These tumors are rare, have highly unspecific presentation and, frequently, are diagnosed late. We reviewed the charts of 42 patients with primary jejunum-ileal tumors treated in the Department of General Surgery of Rio de Janeiro State University Hospital, Rio de Janeiro, RJ, Brazil, from 1969 to 1998. We performed bivariate analyses, based on chi 2 test, searching associations between tumors malignancy and demographic and clinical variables. Then logistic regression was employed to consider the independent effect of variables previously identified on malignancy risk. The malign tumors included 11 adenocarcinomas, 7 leiomyosarcomas, 5 carcinoids and 4 lymphomas; the benign tumors included 10 leiomyomas, 2 hamartomas, and single cases of adenoma, multiple neurilemoma and choristoma. The bivariate analyses indicated the association between malignancy and palpable abdominal mass (P = 0.003), period from signs and symptoms onset to diagnosis (P = 0.016), anemia (P = 0.020), anorexia (P = 0.003), abdominal pain (P = 0.031), weight loss (P = 0.001), nausea and vomit (P = 0.094), and intestinal obstruction (P = 0.066); no association with patients demographic characteristics were found. In the final logistic regression model, weight loss, anemia and intestinal obstruction were statistically associated with the dependent variable of interest. Based only on three variables--weight loss, anemia and intestinal obstruction-the model defined was able to predict primary jejunum-ileal tumors malignancy with sensitivity of 85.2 per cent, specificity of 80.0 per cent, and accuracy of 83.3 per cent

Brief case report. Metastatic leiomyosarcoma of the liver

A case of metastatic leiomyosarcoma of the liver was presented. The clinical, radiological, pathologic and therapeutic aspects are mentioned

Primary small intestinal adenocarcinoma.

Seven patients with adeno-carcinoma of the small intestine were seen over a period of five years. Four were localized to the duodenum, the jejunum was involved in two and the ileum in one. Abdominal pain, weight loss, anemia and obstruction were the most common presenting complaints. Endoscopy was the primary diagnostic modality for the duodenal tumours. Diagnostic accuracy of barium contrast examination was 83%. Curative resections were performed in two patients and palliative surgery in the rest.

Collision tumor of gastrointestinal tract.

A rare combination of multiple adenomatous polyps of the colon and carcinoid tumor of the ileum in a 54-year-old man is reported.

Intestinal endometriosis.

Two cases with intestinal endometriosis, one with a right iliac fossa mass and the other with subacute intestinal obstruction, are presented. In both the cases, the diagnosis was not suspected clinically and was reached only on histological examination of the resected specimens.