Síndrome de Peutz-Jeghers como causa de invaginación intestinal en niño / Peutz-Jeghers syndrome as a cause of intestinal intussusception in children

La invaginación intestinal se presenta con mayor frecuencia en el lactante menor de 2 años, con un pico entre los 5 y 9 meses de edad. En la gran mayoría de los casos es idiopática o de causa desconocida, probablemente secundaria a una infección viral que provoca un crecimiento del tejido linfático intestinal. Sólo en un 2-8% de los pacientes se demuestra una alteración anatómica como causa de la intususcepción (divertículo de Meckel, pólipo). Es la llamada invaginación intestinal secundaria, que suele presentarse en los menores de 3 meses o mayores de 3 años. El síndrome de Peutz-Jeguers (SPJ) es una condición rara y su frecuencia es probablemente inferior a 1/50,000. Se caracteriza por la presencia de pólipos hamartomatosos potencialmente malignos en el tracto digestivo asociada a pigmentaciones mucocutáneas características. Los datos actuales sugieren la existencia de al menos 2 genes implicados: STK11 (19p13.3), identi cado recientemente, es el responsable de la enfermedad en el 70% de las familias. Se describe el caso de dos adolescentes con cuadro de Intususcepción intestinal con diagnóstico de poliposis familiar de Peutz-Jeghers, requiriendo ambas procedimiento quirúrgico

Intestinal intussusception occurs more frequently in the infant younger than 2 years, with a peak between 5 and 9 months of age. In the vast majority of cases it is idiopathic or of unknown cause, probably secondary to a viral infection that causes a growth of the intestinal lymphatic tissue. Only in 2-8% of the patients an anatomical alteration as cause of the intussusception is demonstrated (Meckel's diverticulum, polyp). It is called secondary intestinal invagination, which usually occurs in children under 3 months or older than 3 years. Peutz-Jeguers syndrome (SPJ) is a rare condition and its frequency is probably less than 1 / 50,000. It is characterized by the presence of potentially malignant hamartomatous polyps throughout the digestive tract associated with characteristic mucocutaneous pigmentations. Current data suggest the existence of at least 2 genes involved: STK11 (19p13.3), recently identi ed, is responsible for the disease in 70% of families. We describe the case of two adolescents with intestinal intussusception with a diagnosis of familial polyposis of Peutz Jeghers, requiring both surgical procedures

Síndrome de Gardner: relato de caso e breve revisão da literatura / Gardner Syndrome: case report and brief review of the literature

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)

Localización y tamaño de los adenomas del colon como factores asociados a displasia de alto grado / Localization and size of colon adenomas as factors related to high grade dysplasia

Objetivo: Determinar si la localización y el tamaño de los adenomas de colon se asocian con la presencia de displasia de alto grado en los pacientes de un hospital peruano. Materiales y Métodos: Se realizó un estudio trasversal mediante la revisión de informes de colonoscopías de los años 2014-2015 del Hospital Nacional Daniel Alcides Carrión, incluyéndose los pólipos de pacientes mayores de 18 años; y excluyéndose los de pacientes con cáncer de colon, antecedente de cirugía oncológica, enfermedad inflamatoria intestinal y poliposis (6 o más). Se extrajeron los datos de localización (colon proximal y distal, división a partir del ángulo esplénico), tamaño (menos de 10 mm y 10 mm o más), forma (pediculados y sésiles) y grado de displasia (bajo y alto grado). Se calculó la fuerza de asociación mediante OR, se determinó si existía asociación a través de la prueba Chi cuadrado, con nivel de significancia menor a 0,05. Resultados: De un total de 1710 informes de colonoscopías revisadas, 378 personas tuvieron pólipos, calculando una tasa de detección de adenomas de 22,1%. De los 458 pólipos encontrados 254 fueron adenomas. Se demostró una asociación significativa entre la localización en colon distal y displasia de alto grado (OR 2,68 IC 1,12-6,42, p<0.05); asimismo, los adenomas mayores o iguales a 10 mm tuvieron más riesgo de displasia de alto grado (OR 7,75 IC 3,05-19,69, p<0.05). No se encontró asociación entre la forma de los adenomas y grado de displasia. Conclusión: Se concluye que el tamaño de 10 mm o más y la localización en colon distal se asocian a displasia de alto grado en los adenomas.

Objective: To determine whether localization and size are related to the presence of high-grade dysplasia of colon adenomas in patients of a Peruvian hospital. Materials and methods: This is a descriptive transversal study. We checked colonoscopy reports of 2014-2015 years of Hospital Daniel Alcides Carrion, we included the polyps found in patients older than 18 years old, and excluded reports from patients with colorectal cancer, an antecedent of oncological surgery, inflammatory bowel disease and polyposis (6 or more). We used data based on localization (proximal and distal colon, based on the splenic angle), size (less than 10 mm and 10 mm or more), shape (pediculate and sessile) and grade of dysplasia (low and high-grade). We calculated the strength of association by OR, and we determined whether there was association by Chi-square test with a significance value less than 0.05. Results: We reviewed a total of 1710 of colonoscopy reports, 378 patients had polyps, so the adenoma detection rate was 22.1%. There were 458 polyps, from which 254 were adenomas. From these adenomas, we found an association between distal colon localization and high-grade dysplasia (OR 2.68 IC 1.12-6.42, p<0.05); likewise, there was an association between the size of the adenomas and high-grade dysplasia (OR 7.75 IC 3.05-19.69, p<0.05). We did not find any association between the shape and grade of dysplasia. Conclusion: This study concludes that there is an association between the size of 10 mm or more and localization in the distal colon with high-grade dysplasia of adenomas.

Síndrome de Peutz-Jeghers: novos dados e bases moleculares sobre uma doença rara / The Peutz-Jeghers syndrome: new data and molecular bases on a rare disease

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.

Correlación entre diagnóstico ecográfico e histopatológico de poliposis vesicular en la Clínica Good Hope 2008-2014 / Correlation between sonographic diagnosis and histopathological results of gallbladder poliposis in Good Hope Clinic 2008-2014

Objetivo: determinar la correlación entre el diagnóstico ecográfico y el resultado histopatológico de poliposis vesicularen los pacientes y encontrar el valor predictivo positivo de la ecografía en el diagnóstico de esta patología.Material y Métodos: Es una investigación no experimental, transversal, descriptiva y correlacional, realizada en unamuestra de 128 pacientes operados con diagnóstico de poliposis vesicular en la clínica Good Hope entre 2008 y 2014. Serevisaron los informes ecográficos e histopatológicos de estos pacientes y se buscó la relación mediante el coeficiente decorrelación de Spearman.Resultados: El 67,2% de la muestra correspondió al sexo femenino y el 32,8% al sexo masculino; la edad promedio fue de43,4 años. El 74,2% de los 128 casos presentó pólipos según el examen histopatológico, de los cuales el 94,7% fueronpseudopólipos y 84% fueron pólipos de colesterol; solo el 5,3% de los pólipos fueron verdaderos (adenomas) y ninguno deellos fue maligno, el pólipo más grande midió 13 mm. El valor predictivo positivo de la ecografía en el diagnóstico depoliposis vesicular fue 74.21%. La correlación entre el número de pólipos por ecografía e histopatología según elcoeficiente de Spearman fue muy baja, directa y significativa (Rho=0,189, p=0,032).Conclusión: Existe una correlación directa entre el diagnóstico ecográfico y el resultado histopatológico de poliposisvesicular; la ecografía puede considerarse como un método confiable para el diagnóstico de esta patología.

Objective: To determine the correlation between sonographic diagnosis and histopathological results of gallbladderpolyposis and find the positive predictive value of ultrasound in the diagnosis of this pathology.Material and Methods: It is a non experimental, transversal, descriptive and correlational study with a sample composedof all patients operated with a diagnosis of gallbladder polyps in the Good Hope Clinic between the years 2008 and 2014. Atotal of 128 patients were observed. Histopathological and sonographic reports of these patients were reviewed and thestatistical correlation of both studies was sought by the test of Spearman.Results: Reveals that 67,2% were females and 32,8% were males; the average age was 43,4 years; 74,2% presented polypsby histopathological examination, of which 94,7% were pseudopolyps, with 82 % cases of cholesterolpolyps, only 5,3% weretrue polyps (adenomas) and none of them were malignant. The positive predictive value of ultrasound in the diagnosis ofgallbladder polyposis was 74,21%. According to the Spearman coefficient the correlation between the number of polyps byultrasonography and histopathology was low, direct and significant (Rho = 0,189; p = 0,032).Conclusions: We conclude that there is a correlation between the ultrasound diagnosis and histopathological result ofgallbladder polyps and ultrasound can be considered a reliable method for the diagnosis of gallbladder polyps.

Identificação de mutações nos genes APC e MUTYH em famílias com polipose adenomatosa intestinal / Mutational screening of APC and MUTYH genes in families with adenomatous polyposis

Atualmente, pacientes com múltiplos adenomas colorretais são avaliados para mutações germinativas em dois genes, APC e MUTYH. Pacientes com mutações em APC apresentam Polipose Adenomatosa Familiar Clássica ou Atenuada (FAP/AFAP), enquanto que pacientes portadores de mutações bialélicas em MUTYH apresentam Polipose Associada ao MUTYH (MAP). O espectro das mutações em APC e MUTYH, assim como as correlações genótipo-fenótipo nestas síndromes, apresentam importante impacto clínico e podem ser distintas em cada população, tornando necessária a obtenção de dados genéticos e clínicos de diferentes populações. Além disso, cerca de 10-15% dos pacientes com polipose não apresentam mutações nesses genes, o que sugere a existência de outros genes de predisposição ainda desconhecidos. Assim, os objetivos deste estudo foram caracterizar mutações germinativas nos genes APC e MUTYH em pacientes Brasileiros com polipose, além de identificar novos genes associados com a síndrome através de sequenciamento de exoma dos pacientes negativos. No total, 23 pacientes não relacionados foram avaliados para mutações pontuais na região codificante dos genes APC e MUTYH através de sequenciamento capilar, e para rearranjos genômicos nos mesmos genes por meio de MLPA (Multiplex Ligation-Dependent Probe Amplification), arrays de hibridação genômica comparativa (CGH-array), e PCR duplex quantitativo. Este último método de avaliação do número de cópias genômicas foi desenvolvido e validado no presente estudo. Foram identificados 21 pacientes mutados nesta coorte (91%) - 6 pacientes apresentaram mutações patogênicas em MUTYH, 14 apresentaram mutações patogênicas em APC e um paciente foi portador de uma nova variante missense de significado clínico desconhecido em APC (p.Val1789Leu); seis mutações foram descritas pela primeira vez neste trabalho. Em um destes pacientes identificamos a primeira grande deleção genômica descrita no gene MUTYH. Correlações genótipo-fenótipo dos dados...

Patients with multiple colorectal adenomas are currently screened for germline mutations in two genes, APC and MUTYH. APC-mutated patients present classic or attenuated familial adenomatous polyposis (FAP/ AFAP), while patients carrying biallelic MUTYH mutations exhibit MUTYH-associated polyposis (MAP). The spectrum of APC and MUTYH mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations. Furthermore, up to 10-15% of polyposis patients do not harbor mutations in these genes, suggesting that other yet unknown polyposis-predisposing genes could exist. Thus, the aim of this study was to characterize germline mutations in APC and MUTYH genes in Brazilian polyposis and to investigate novel susceptibility genes by exome sequencing of negative patients. At total, 23 unrelated polyposis patients were screened for APC/MUTYH point mutations through DNA capillary sequencing, and for APC and MUTYH genomic rearrangements through MLPA (multiplex ligation-dependent probe amplification), array-comparative genomic hybridization, and duplex quantitative PCR. This last gene dosage method was developed and validated in this study. We identified 21 mutated patients in this cohort (91%) – 6 patients carried MUTYH pathogenic mutations, 14 carried APC pathogenic mutations and one carried a novel APC missense variant of unknown clinical significance (p.Val1789Leu); six mutations were described for the first time in this series. One of these patients harbored the first large genomic deletion identified in MUTYH gene...

Cáncer de tiroides y síndromes polipósicos intestinales Síndrome de Gardner / Thyroid cancer and intestinal polyposis syndromes Gardner syndrome

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).

Peutz-Jeghers como síndrome cutáneo y poliposis gastrointestinal / Peutz-Jeghers-like cutaneous syndrome and gastrointestinal polyposis / Peutz-Jeghers como síndrome cutânea e poliposis gastrointestinal

El síndrome de Peutz-Jeghers (SPJ) es un trastorno poco frecuente, de herencia autosómica dominante, caracterizado por la asociación de pigmentación mucocutánea y poliposis intestinal, los cuales están presentes desde la infancia y, a veces, conduce a la invaginación intestinal o hemorragia gastrointestinal con predisposición considerable a la malignidad.

Peutz-Jeghers syndrome (PJS) is a rare disorder of autosomal dominant inheritance, characterized by the association of cutaneous and mucosal pigmentation and intestinal polyps, which are present from childhood and can sometimes lead to intussusception or gastrointestinal bleeding with significant predisposition to malignancy.

A síndrome de Peutz-Jeghers (SPJ) é um transtorno pouco frequente, de herança autosómica dominante, caracterizado pela associação de pigmentação mucocutánea e poliposis intestinal, os quais estão presentes desde a infância e as vezes pode conduzir à intussuscepção intestinal ou hemorragia gastrointestinal com predisposição considerável à malignidade.

Intestinal intussusception in adults: tomographic findings and report of two cases / Intestinal intussusception in adults: tomographic findings and report of two cases.

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.

Tumor de Vanek o pólipo fibroide inflamatorio gástrico. Presentación de dos casos en Medellín / Presentation of two cases of Vanek's tumor (inflammatory fibroid polyp) in Medellín

Se reportan dos casos de pólipo fibroide inflamatorio (PFI) o tumor de Vanek. El primero corresponde a una mujer de 63 años, con cuadro clínico de dolor abdominal. En la endoscopia digestiva se encuentra pólipo antral, que se reseca; el estudio anatomopatológico informa los hallazgos clásicos de un pólipo fibroide inflamatorio. El segundo caso es un paciente de sexo masculino, 63 años, que ingresa en choque hemorrágico por hematemesis masiva. En la endoscopia se evidencia una lesión de Dieulafoy en el cardias y una lesión polipoide en antro que se reseca. El estudio anatomopatológico informa una histología inusual que requiere estudio de inmunohistoquímica para confirmar el diagnóstico de PFI.

We report on two cases of inflammatory fibroid polyps in the stomach (Vanek's tumor). The first patient was a 63-year-old woman with abdominal pain for whom resection of an antral polypoid lesion was done. This polyp presented classical histopathology. The second case was a 63-year-old male patient who was admitted to the hospital with hemorrhagic shock due to hematemesis. During endoscopy a Dieulafoy's lesion was found in the cardia of the stomach and a polypoid lesion was found in the antrum. Unusual histopathology required that the diagnosis be confirmed by immunohistochemistry.

Caracterización clínica y genética de las poliposis intestinales hereditarias / Clinics and genetic characteristics in hereditary colon polyposis

Se denomina pólipo intestinal a una lesión visible elevada o tumor que se proyecta desde la superficie epitelial al lumen visceral. En relación al número, presencia de antecedentes familiares, manifestaciones extraintestinales y estudios genéticos es que se constituyen diversas poliposis intestinales. Si bien, las poliposis intestinales se manifiestan en general en la edad adulta, existen manifestaciones que pueden hacer sospechar la presencia de un síndrome poliposico hereditario en la infancia. Además en una proporción considerable estas poliposis presentan manifestaciones extraintestinales, tanto benignas como tumores en otros órganos. Es por esto, que una alta tasa de sospecha, en particular frente a pacientes con antecedentes familiares, puede conducir a un diagnóstico y tratamiento oportuno, además de considerar a la familia como potenciales pacientes e ingresar al grupo familiar a un registro de tumores hereditarios. Diversas técnicas de biología molecular han permitido la identificación de las mutaciones que son heredadas en estas enfermedades, permitiendo realizar conductas preventivas al saber el riesgo de cada persona en una familia afectada. El objetivo de esta revisión, es caracterizar las distintas poliposis intestinales, en cuanto a sus manifestaciones clínicas, clasificaciones, estudio genético y enfrentamiento multidisciplinario.

Polyps are solid or tumoral elevated lesions that arise from the intestinal epithelium so that they become visible in the intestinal epithelium so that they become visible in the intestinal lumen. Information regarding familial history, number, extraintestinal manifestations and genetic studies of polyps, assemble different types of intestinal polyposis. Generally, clinical manifestations occur in adult patients, although in children there are several signs that should make the physician suspect a hereditary polyposis syndrome. In addition it is important to know extraintestinal manifestations which are mostly benign but tumors may be present in other organs too. Bearing in mind that high clínical suspicion of hereditary polyposis syndrome especially if familial history is present, provides early diagnosis and appropriate treatment for the patient and eventually for the family members that could be affected, entering that family in a registry of hereditary tumors. Molecular biology has created different techniques to identify the presence of hereditary mutations that are specific for intestinal polyposis. Acknowledgment of these mutations establishes risks groups allowing adequate prevention strategies. The objective of this revision is to characterize and different types of intestinal polyposis, according to clinical manifestations, classification, genetic study and multidisciplinary approach.

Poliposis serrata (antiguamente denominada poliposis hiperplásica). Presentación de un caso y revisión de la literatura / Serrated polyposis (previously named hyperplastic polyposis): case report and literature review

Antecedentes: la poliposis hiperplásica es una enfermedad esporádica, con bases genéticas poco conocidas, que se manifiesta usualmente alrededor de los 50 años de edad. Posee un riesgo aumentado para el cáncer colorrectal, el cual ha sido citado de hasta un 50 % en diferentes series de la literatura. En su patogénesis ha sido implicada la secuencia pólipo hiperplásico-adenoma serrato-cáncer colorrectal. Objetivo: presentar un caso clínico y realizar una revisión bibliográfica del tema, especialmente en relación con su pesquisa y manejo. Lugar de realización: Institución pública. Población: un paciente de 54 años de edad evaluado y tratado por cáncer de recto y poliposis hiperplásica. Método: presentación de un caso y análisis bibliográfico. Conclusiones: la poliposis hiperplásica es una enfermedad fenotípicamente heterogénica y los individuos afectados tienen riesgo aumentado para desarrollar un cáncer colorrectal.

Background: Hyperplastic polyposis is a sporadic disease, with little known genetic basis that usually present at around 50 years old. It has an increased risk of colorectal cancer up to 50%, according to different series of the literature. With regard to the pathogenesis a sequence of hyperplastic polyposis­serrated adenoma-colorectal cancer has been involved. Objective: To report on a case and to make a literature review on this subject, especially with relation to the screening and management. Place of application: Public Institution. Population: 54 years old patient evaluated and treated for rectal cancer and hyperplastic polyposis. Method: case report and literature review. Conclusions: hyperplastic polyposis is a phenotypicaly heterogeneous disease and affected individuals are at increased risk for colorectal cancer.

Síndrome de Gardner, diagnóstico por tomografía computarizada y colonoscopia virtual: reporte de caso / Diagnosis of gardner syndrome using computed tomography and virtual colonoscopy: case report

El síndrome de Gardner es una entidad poco frecuente, que se hereda de forma autosómica dominante. Los pacientes afectados presentan poliposis colónica, osteomatosis y otras características comunes. La importancia de hacer el diagnóstico radica en que el 100 de los casos sufre transformación maligna de los pólipos adenomatosos intestinales. En este artículo se presenta un caso y se revisa el síndrome como fue descrito originalmente, sus manifestaciones clínicas y los hallazgos imaginológicos.

Study of APC and betha-catenin protein expression in polyps and colorectal adenocarcinoma

OBJECTIVE: To study part of the Wnt signaling pathway for carcinogenesis in colorectal cancer and polyps, through adenomatous polyposis coli (APC) and β-catenin protein expression. METHODS: We studied the immunoexpression of APC protein and β-catenin in the adenocarcinoma and polyps (adenoma) from ninety-one patients who underwent resection of sporadic colorectal cancer (CRC) with curative intent from 1993 to 2004 at the Hospital do Câncer de Barretos (Brazil). Each patient was resected within a period 3 months before or after diagnosis. The polyps or adenocarcinoma was considered positive for APC when more than 10% of the cells showed cytoplasmic staining and for β-catenin when more than 5% of the cells showed nuclear stainning. RESULTS: Among the 91 patients, we found association among APC protein expression in the polyps and in the respective colorectal adenocarcinoma (p = 0.014). Similarly, there were significant association with nuclear expressions (p = 0.001) of β-catenin in the polyps and colorectal adenocarcinoma. Nuclear β-catenin expression was associated with villous adenoma (86%, p = 0.042). There was no association among APC and β-catenin expression and any other histological finding. CONCLUSION: There is an association of APC and β-catenin protein expression in polyps and in colorectal adenocarcinoma. This finding allows us to speculate that in the same patient the same WNT pathway or another is activated in both lesions; polyp and adenocarcinoma. Villous adenomas occur most frequently via the Wnt signaling pathway.

Síndrome Peutz Jeghers y obstrucción intestinal: caso clínico / Peutz Jeghers syndrome and bowel obstruction in children: a clinical case

Peutz-Jeghers Syndrome (PJS) is an infrequent genetic disorder characterized by intestinal hamartomas and characteristic mucocutaneous pigmentation. It is frequently the cause of intususception, intentinal obstruction and/or intestinal bleeding. An 8 y.o. patient is described who presented with bowel obstruction and a history of familiar PJS polyposis. Exploratory laparotomy showed that the obstruction was due to a mass of sizable polyps which obstructed the intestinal lumen in the jejunum and colon. Surgical treatment consisted of double intestinal resection and termino-terminal anastomosis. This procedure resolved the acute intestinal obstruction and saved the patient's life.

El síndrome de Peutz-Jeghers (SPJ) es una enfermedad genética poco frecuente, caracterizada por la presencia de pólipos hamartomatosos intestinales y pigmentaciones mucocutáneas características. Con frecuencia es causal de intususcepción, obstrucción intestinal y/o hemorragias digestivas. Se describe el caso clínico de una paciente de 8 años que tenía el diagnóstico de poliposis familiar de Peutz Jeghers y que presentó obstrucción intestinal. En la laparotomía exploradora se constató que la obstrucción intestinal era secundaria a una masa de grandes pólipos sésiles, que obstruían el lumen intestinal en yeyuno y colon. El tratamiento quirúrgico consistió en doble resección intestinal y anastomosis termino-terminal. Este procedimiento quirúrgico constituyó una solución al cuadro agudo de obstrucción intestinal de la paciente, siendo de vital importancia para mantener su sobrevida.

Juvenile polyposis syndrome / Síndrome de poliposis juvenil

Juvenile polyposis syndrome (JPS) is rare and is present when there are multiple juvenile polyps in the gastrointestinal tract, usually the colon. The importance of this condition is the association with the development of colorectal and upper gastrointestinal cancer at a young age. We report the case of a 21- year old male with a two-year history of intermittent rectal bleeding and anal protrusion. Colonoscopy revealed multiple pedunculated cherry red polyps mainly in the left colon. Histology confirmed juvenile polyps. Juvenile polyposis syndrome should be considered in young patients with colonic symptoms, especially rectal bleeding. It is important to distinguish between patients with JPS and patients with an isolated harmatomatous juvenile polyp.

El síndrome de poliposis juvenil (SPJ) es raro y se presenta en forma de pólipos juveniles múltiples en el tracto gastrointestinal, generalmente en el colon. La importancia de esta condición estriba en su asociación con el desarrollo del cáncer colorectal y el cáncer gastrointestinal superior en la edad juvenil. Reportamos el caso de un joven de 21 años con una historia de dos años de sangramiento rectal intermitente y protrusión anal. La colonoscopía reveló múltiples pólipos pedunculados de color rojocereza, principalmente en el colon izquierdo. La histología confirmó la presencia de pólipos juveniles. El síndrome del poliposis juvenil debe ser considerado en los pacientes jóvenes con síntomas colónicos, especialmente cundo hay sangramiento rectal. Es importante distinguir entre pacientes con SPJ y pacientes con un pólipo juvenil harmatomatoso aislado.

Adenocarcinoma de diferenciación neuroendocrina en pólipo rectal / Neuroendocrine differentiation in adenocarcinoma of rectal polyp

Se presenta un paciente asintomático, masculino, de 49 años, en cuya colonospia, efectuada durante su chequeo ejecutivo en el "Hospital Universitario del Valle de Cali", se encontró un pólipo sésil a 8 cm del margen anal. Se realizó polipectomia y, debido a que el estudio histopatológico demostró adenocarcinoma de recto con diferenciación neuroendocrina, se decidió realizar resección anterior baja oncológica laparoscópica que no tuvo complicaciones. o se ha evidenciado recidivas durante los controles efectuados a lo largo de dos años 2 años.