RESUMO

Abstract: Introduction Most cases of colorectal cancer (CRC) occur sporadically; however, ~3% to 6% of all CRCs are related to inherited syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP). The adenomatous polyposis coli (APC) andmutY DNA glycosylase (MUTYH) germline mutations are the main genetic causes related to colorectal polyposis. Nevertheless, in many cases mutations in these genes have not been identified. The aim of the present case report is to describe a rare case of genetic colorectal polyposis associated with the axis inhibition protein 2 (AXIN2) gene. Case Report: The first colonoscopy screening of a 61-year-old male patient with no known family history of CRC revealed ~ 50 colorectal polyps. A histological evaluation of the resected polyps showed low-grade tubular adenomas. Germline genetic testing through a multigene panel for cancer predisposition syndromes revealed a pathogenic variant in the AXIN2 gene. In addition to colorectal polyposis, the patient had mild features of ectodermal dysplasia: hypodontia, scant body hair, and onychodystrophy. Discussion: The AXIN2 gene acts as a negative regulator of the Wnt/β -catenin signaling pathway, which participates in development processes and cellular homeostasis. Further studies are needed to support the surveillance recommendations for carriers of the AXIN2 pathogenic variant. (AU)

Assuntos

RESUMO

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Since the maxillofacial findings usually precede gastrointestinal polyps, the dentist plays a crucial role in the diagnosis of Gardner syndrome, and panoramic radiography is an important tool in the diagnosis of the disease. We report here a case of Gardner syndrome in a patient showing mandibular osteomas and impacted teeth. Also, cases of Gardner syndrome with maxillofacial manifestations reported in the literature were reviewed and compared with ours. According to the findings, osteomas are important manifestations of this syndrome, and regardless of the absence of family history of intestinal polyposis, their occurrence should prompt diagnostic evaluation for this disease.

Assuntos

RESUMO

INTRODUCCIÓN: La cápsula endoscópica (CE) es a una técnica no invasiva que permite la visualización de la mucosa del intestino delgado. Se utiliza para el diagnóstico de lesiones no accesibles con otros exámenes. El objetivo fue describir la experiencia de uso de CE en un hospital público pediátrico en Chile. PACIENTES Y MÉTODO: Estudio retrospectivo en que se revisaron los casos en que se utilizó CE en el Hospital Dr. Luis Calvo Mackenna desde 2010 hasta la fecha. Se registraron datos demográficos, clínicos, hallazgos, complicaciones, diagnóstico y conducta. RESULTADOS: Se realizaron 20 procedimientos en 16 pacientes, 11 varones (69%), mediana de edad 12 años (rango 3 a 15 años). Las indicaciones incluyeron estudio de poliposis (60%), sospecha de enfermedad de Crohn (20%), hemorragia digestiva de origen desconocido (15%) y anemia de causa desconocida (5%). Diecisiete estudios estaban alterados (85%) y 11 llevaron a un diagnóstico o cambio de conducta clínica (55%). Los hallazgos principales fueron pólipos y erosiones intestinales. No se produjeron complicaciones. CONCLUSIONES: La CE es una técnica útil y segura en niños, factible de realizar en un hospital público pediátrico.

INTRODUCTION: Capsule endoscopy (CE) is a non-invasive technique that allows visualization of small intestine mucosa. It is used for diagnosis of lesions not accessible with other tests. Our goal was to describe the experience using CE in a pediatric public hospital in Chile. PATIENTS AND METHOD: A retrospective study was carried out to review the cases in which CE was used at Dr. Luis Calvo Mac kenna Hospital from 2010 to date. Demographic and clinical data, findings, complications, diagnosis and treatment were recorded. RESULTS: Twenty procedures were performed in 16 patients, 11 men (69%), median age 12 years (range 3 to 15 years). Indications included polyposis study (60%), suspected Crohn disease (20%), obscure gastrointestinal bleeding (15%) and undiagnosed anemia (5%). Seventeen studies were altered (85%) and 11 led to a diagnosis or clinical behavior change (55%). There were no complications. CONCLUSIONS: CE is a useful and safe technique in children, feasible to perform in a pediatric public hospital.

Assuntos

RESUMO

La enfermedad de Menetrier se define como la poliposis gástrica múltiple. Es una entidad infrecuente y se caracteriza por pólipos hiperplásicos de menos de 2 centímetros de diámetro, que rara vez se malignizan. Se presenta una paciente con enfermedad de Menetrier, que llevó seguimiento endoscópico durante tres años y debido al aumento progresivo del número de pólipos y la sintomatología se realizó una gastrectomía subtotal sin complicaciones intra ni posoperatorias(AU)

The Ménétrier's disease is defined as multiple gastric polyposis. It is an infrequent entity characterized by hyperplastic polyps less than 2 centimeters in diameter, which rarely become malignant. We present a patient with Ménétrier's disease, who underwent endoscopic follow-up for three years and, due to the progressive increase in the number of polyps and the symptomatology, was performed a subtotal gastrectomy without intraoperative or postoperative complications(AU)

Assuntos

RESUMO

La enfermedad de Menetrier se define como la poliposis gástrica múltiple. Es una entidad infrecuente y se caracteriza por pólipos hiperplásicos de menos de 2 centímetros de diámetro, que rara vez se malignizan. Se presenta una paciente con enfermedad de Menetrier, que llevó seguimiento endoscópico durante tres años y debido al aumento progresivo del número de pólipos y la sintomatología se realizó una gastrectomía subtotal sin complicaciones intra ni posoperatorias(AU)

The Ménétrier's disease is defined as multiple gastric polyposis. It is an infrequent entity characterized by hyperplastic polyps less than 2 centimeters in diameter, which rarely become malignant. We present a patient with Ménétrier's disease, who underwent endoscopic follow-up for three years and, due to the progressive increase in the number of polyps and the symptomatology, was performed a subtotal gastrectomy without intraoperative or postoperative complications(AU)

Assuntos

RESUMO

Modelo do estudo: Relato de caso. Importância do problema e comentários: A Síndrome de Gardner trata-se de uma variante da Polipose Adenomatosa Familiar (PAF), com associação de pólipos gastrointestinais, tumores de partes moles e tumores ósseos. É uma desordem rara e o diagnóstico precoce é crucial para redução da morbimortalidade. O presente estudo relata um caso de Síndrome de Gardner com seus achados clínicos e radiológicos, além de apresentar breve revisão da literatura. (AU)

Type of study: Case report. Relevance and comments: Gardner Syndrome is a variant of Familial Adenomatous Polyposis (FAP), with the association of gastrointestinal polyps, soft tissue tumors and bone tumors. It is a rare disorder and early diagnosis is crucial to reduce its morbimortality. The present report illustrates a case of Gardner Syndrome with its clinical and radiologic features, as well as a brief review of the literature. (AU)

Assuntos

RESUMO

BACKGROUND: Multiple lymphomatous polyposis is a rare type of gastrointestinal lymphoma that extensively infiltrates the intestine. Multiple lymphomatous polyposis originates from the mantle zone of the lymphoma follicle and is considered to be a mantle cell lymphoma, which is a relatively aggressive type of B-cell non-Hodgkin's lymphoma. We report an unusual case of a patient with multiple lymphomatous polyposis with extensive colorectal involvement and acute intestinal obstruction, an atypical complication of this rare disease. On the basis of this case study, the pitfalls in gastrointestinal tract lymphomatous polyposis diagnosis and prognosis, as well as the treatment options, are discussed. CASE PRESENTATION: Our patient was a 76-year-old white woman with asthenia, cramps, and swelling in the lower left quadrant of the abdomen, as well as weight loss within the previous 5 months. A colonoscopy revealed polyps in the rectum, sigmoid colon, descending colon, and right and left colic flexures. A biopsy revealed lymphomatous infiltration of the intestinal wall. Because of the large size of the polypoid masses, which narrowed the colonic lumen in multiple locations, the patient developed acute intestinal obstruction and was referred for laparotomy. She underwent a total proctocolectomy with a permanent ileostomy and a left salpingo-oophorectomy. Microscopic examination showed the presence of a multicentric, low-grade, small lymphocytic lymphoma. Immunohistochemical analysis revealed positive immunostaining for CD79a, CD20, and CD45. These results were consistent with the diagnosis of mantle cell lymphoma. Two weeks after surgery and prior to discharge, but before the beginning of chemotherapy, the patient's general condition worsened as she experienced a severe and progressive respiratory tract infection, advanced respiratory insufficiency, and septic shock, and she ultimately died. CONCLUSIONS: Mantle cell lymphoma develops as a progressive and aggressive disease with widespread polyposis of the gastrointestinal tract. The intensive chemotherapeutic regimens usually result in the regression of macroscopic and microscopic lesions; however, remissions are short in duration, and the median length of patient survival is 3-4 years. Mantle cell lymphoma is a rare disease that should be part of the differential diagnosis of polypoid diseases of the large intestine.

Assuntos

RESUMO

A síndrome de Peutz-Jeghers é uma associação de polipose no trato gastrointestinal do tipo familiar e pigmentação melânica mucocutânea, particularmente nos lábios, mucosa bucal e polpa digital. Há poucas décadas, algumas centenas de casos haviam sido descritos na literatura, o que torna a doença não tão rara. O objetivo deste trabalho foi relatar casos clínicos em que os pacientes eram portadores da síndrome. Em um dos casos, tia e sobrinha evidenciaram a implicação genética da doença. Dados clínicos, bases moleculares e resultados histopatológicos, com a utilização de anticorpos (Ac) monoclonais, mostram a relevância do trabalho. Portadores crônicos da síndrome após décadas, ainda não diagnosticados, procuram o cirurgião-dentista para tratamentos diversos, dando-lhe oportunidade e responsabilidade na detecção da doença, devido ao risco de desenvolvimento de tumores malignos no trato gastrointestinal.

The Peutz-Jeghers syndrome is a familiar association of polyposis in the gastrointestinal tract and melanic mucocutaneous pigmentation, particularly in the lips, oral mucosa and fi ngertips. A few decades few hundred cases had been described in the literature wich makes the disease not so rare. The objective of this study is to report clinical cases where patients were carriers of the syndrome. In one of the cases the aunt and nice showed the genetic implication of the disease. Clinical data, molecular basis and histopathological results with monoclonal antibodies (Ac), show the relevance of this work. Chronic carriers of the syndrome after decades, still undiagnosed, seek the dentist for various treatments giving him the opportunity and responsibility to detect the disease due to the risk of development of malignant tumors in the gastrointestinal tract.

Assuntos

RESUMO

A síndrome de Peutz-Jeghers é doença autossômica dominante rara e tem como características a presença de pigmentação melânica mucocutânea em lábios, região perioral e mucosa bucal, associada com polipose hamartomatosa do trato gastrointestinal. Portadores da síndrome têm elevada propensão de desenvolverem diversos tumores malignos. O objetivo do presente estudo é relatar um caso clássico da síndrome em mulher com 21 anos etários com hematoquezia, mas sem dor ou alterações do ritmo intestinal. Episódio semelhante havia ocorrido há alguns meses. Apresentava-se hipocorada e com manchas melanóticas múltiplas sem sangramento em mucosa oral, lábios e extremidades de dedos das mãos. Seu pai também apresentava manchas escuras na mucosa da boca e teve câncer de cólon. Os exames revelaram anemia crônica ferropriva, quatro pólipos sésseis na retossigmoidoscopia rígida e gastrite enantematosa leve de antro e múltiplos pólipos no antro na endoscopia digestiva alta. O exame histopatológico foi compatível com pólipos hiperplásicos sem atipias. As colonoscopias posteriores revelaram o diagnóstico histológico de pólipos de Peutz-Jeghers. Considerando as possíveis complicações associadas, destaca-se a importância do diagnóstico precoce e o acompanhamento multidisciplinar de pacientes com quadro clínico semelhante ao descrito.

Peutz-Jeghers syndrome is a rare dominant autosomal disorder characterized by the presence of mucocutaneous melanic pigmentation in the lips, perioral region and buccal mucosa, associated with hamartomatous intestinal polyposis. Individuals with this syndrome have a high tendency to develop diverse malignant tumors. The aim of the present study is to report a classical case of the syndrome in a 21-year-old woman with bleeding in stools, but without pain or changes in bowel movement. A similar episode had occurred a few months earlier. The patient was pale and had multiple non-bleeding melanotic spots in her mouth, lips and in the tips of her fingers. Her father also presented with black spots in his buccal mucosa and developed colon cancer. Exams revealed chronic anemia caused by iron deficiency, four sessile polyps on rigid retosigmoidoscopy, mild enanthematous antral gastritis, and multiple antral polyps on upper digestive endoscopy. The histopathological study was compatible with hyperplasic polyps without atypia. Subsequent colonoscopy studies revealed the histological diagnosis of ?Peutz-Jeghers polyps?. Due to potentially associated complications, the importance of an early diagnosis and multidisciplinary follow-up should be emphasized for patients with clinical features similar to those herein described.

RESUMO

Resumen Presentamos el caso de una mujer de 22 años de edad, evaluada debido a que en su historia familiar a su madre se le encontró carcinoma de colon sigmoide. A la paciente se le diagnosticó poliposis colónica, que resolvió tras remoción endoscópica de las lesiones. Se realizó estudio de nódulo tiroideo y se realizó tiroidectomía total encontrándose un carcinoma papilar de tiroides como diagnóstico definitivo. Hicimos una revisión de la literatura. (Acta Med Colomb 2013; 38: 182-185).

Abstract We report the case of a 22-year-old woman evaluated because in her family history his mother had a sigmoid colon carcinoma. The patient was diagnosed with colonic polyposis, which resolved after endoscopic removal of the lesions. We made the study of a thyroid nodule and performed total finding a papillary thyroid carcinoma as definitive diagnosis. (Acta Med Colomb 2013; 38: 182-185).

Assuntos

RESUMO

Gardner syndrome (GS) is a rare entity characterized by a triad of familial colonic polyposis, multiple osteomas and soft tissue tumors, including desmoid tumor (DT). This is a case report of a 30 year-old patient with GS who developed giant DT in the abdominal wall after undergoing several laparotomies. The patient has taken a long time to search for medical care, and at first he saw another team that refused to operate him by judging the lesion unresectable. The surgery in our department was performed in three steps. Initially, we resected the lesion with macroscopic margins, and as there were small bowel adhesions in the tumor, we performed enterectomy and closed using the "Bogotá" technique, with skin closure on the bag. On the fourth postoperative day (POD), we reoperated the abdomen without identifying any signs of fistula. On the seventh POD there was another surgical intervention, this time to insert a double-sided mesh. The patient recovered well, and had no debilitating motor deficit, despite the extensive resection of the abdominal muscles. Curative treatment of DT is based on surgical resection and only sequential surveillance allows us an early diagnosis, when the lesion is still resectable. (AU)

Tumor desmoide gigante de parede abdominal em paciente portador da Síndrome de Gardner. A Síndrome de Gardner (SG) é uma entidade rara caracterizada pela tríade polipose colônica familial, múltiplos osteomas e tumores de tecidos moles, dentre eles o tumor desmoide (TD). Tratou-se de um relato de caso de um paciente de 30 anos, com SG que evoluiu com TD gigante em parede abdominal, após ser submetido a diversas laparotomias prévias. O paciente levou longo tempo para procurar o serviço de cirurgia, passando por outra equipe que se negou a abordá-lo por julgar a lesão irressecável. A cirurgia no nosso serviço se deu em três tempos. Inicialmente, foi feita a ressecção da lesão com margens macroscópicas e, por haver aderências de alças no tumor, realizamos enterectomia e fechamos a Bogotá com síntese da pele sobre a bolsa. No quarto dia pós-operatório (DPO), reabordamos o abdômen sem identificar sinal de fístula. No sétimo DPO houve nova abordagem, agora para colocar tela dupla face. O paciente evoluiu bem, sem déficit motor debilitante, apesar da extensa área de ressecção muscular abdominal. O tratamento curativo dos TD é baseado na sua ressecção cirúrgica e somente a vigilância sequencial nos permite seu diagnóstico precoce e a abordagem enquanto a lesão é ressecável. (AU)

Assuntos

RESUMO

OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP), requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis). Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers. (AU)

OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade média de 39,5 anos. Gênero masculino perfez 43% da amostra. Na polipose adenomatosa familiar, 61% tinham diagnóstico prévio de câncer colorretal. Na colite ulcerativa, 31% tiveram abordagem cirúrgica prévia (21% por megacólon tóxico). O tempo médio de internação foi de 10 dias. Complicações pós-operatórias ocorreram em 50% das colites ulcerativas e 29,4% de polipose adenomatosa familiar. Foi realizada ileostomia em 100% das colites ulcerativas e 88% das poliposes adenomatosas familiares. Bolsite ocorreu em oito casos: em sete colites ulcerativas e em uma polipose adenomatosa familiar, com ressecção da bolsa em três colites ulcerativas. Taxa de mortalidade de 7,6%: dois casos de câncer na bolsa e duas complicações pós-operatórias. Complicações tardias ocorreram em 22,4%: em seis poliposes adenomatosas familiares e cinco colites ulcerativas. Dois pacientes apresentaram disfunção erétil e uma ejaculação retrógrada. Um paciente teve dermatite perineal severa (realizada ressecção da bolsa). Foi observada incontinência em quatro pacientes e escape fecal em dois. Média de hábito intestinal: cinco vezes ao dia. CONCLUSÃO: Anastomose íleo-anal com bolsa ileal é uma cirurgia com aceitável morbidade e bons resultados funcionais, quando bem indicada e realizada em centros de referência. (AU)

Assuntos

RESUMO

A síndrome da polipose intestinal associada a tumor cerebral também é conhecida como síndrome de Turcot. Relata-se o caso de um paciente de 65 anos portador de polipose colônica hereditária e que desenvolveu sinais e sintomas neurológicos devido a glioblastoma multiforme cerebral. Destacam-se os achados imunoistoquímicos da lesão cerebral.

Intestinal polyposis syndrome associated with brain tumor, also known as Turcot's syndrome. We report a patient of 65 years old with hereditary colonic polyposis and developed neurological signs and symptoms due glioblastoma multiforme. We highlight the immunohistochemical findings of brain injury.

Assuntos

RESUMO

Objetivo: analisar a qualidade preditiva de modelos computacionais para a diferenciação de tecidos cólicos, construídos a partir da representação de Imagens de Coloscopia (IC) como Matrizes de Co-ocorrência (MC). Materiais e Métodos: os modelos foramconstruídos aplicando técnicas de análise de imagens e de inteligência artificial. Foram utilizadas 67 IC, contendo pólipos, a partir das quais foram extraídas uma imagem da parte de tecido de pólipo e outra de tecido sem pólipo adjacente, totalizando 134 imagens. Para cada imagem, foram construídas MC para diferentes valores do parâmetro distância, D = 1 a 5, e extraídas 11 características de textura.Com essa representação, foram criados cinco modelos computacionais baseados em árvores de decisão. Os modelos foram avaliados utilizando: (a) validação cruzada e (b) tabelas de contingência. Resultados: na análise (a), o modelo de D = 3 apresentou o menor erro médio (22,25% ± 11,85%). Na análise (b), os modelos de D = 1 e 3 apresentaram os melhores valores de precisão. Conclusão: os valores do parâmetro de distância D = 1 e 3 apresentaram os modelos com as melhores qualidades preditivas. Os resultados mostraram que os modelos construídos apresentaram-se promissores para a construção de sistemas computacionais de suporte à decisão.

Purpose: to evaluate the predictive quality of computational models to differentiate colic tissues, based on Cooccorrurence Matrices (MC) representation of Coloscopic Images (IC). Materials and Methods: image analysis and artificial intelligence methods were employed to construct computational models. Sixty seven IC images, containing polyp, were considered in this work, from which a part containing a polypus and another without it were collected given origin to 134 images. For each one of these, different MC were constructed considering five distance parameters (D = 1 to 5) and the extraction of 11 texture characteristics. With this representation, five computational models were generated based on decision trees. These models were evaluated using two techniques: (a) cross-validation and (b) contingency tables. Results: for the (a) analysis, the model with D = 3 presented the smaller average error (22.25% ± 11.85%). For the (b) analysis, models with D = 1 and 3 presented the best precision values. Conclusion: parameters D = 1 and 3 presented models with the best predictive qualities. Results showed that the constructed models were promising to be applied within decision making computational systems.

Assuntos