Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normal-appearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.

Peutz-Jeghers syndrome: an unusual autopsy finding in pregnancy

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis entity that often remains undiagnosed. The major problems associated with PJS are acute complications due to (i) polyp-related intestinal obstruction, (ii) intussusception, and (iii) the risk of cancer in the long-term. We report the case of a 32-year-old female who presented at the emergency room with signs of acute abdomen and died during the clinical workup. She had a one-month history of nausea, vomiting, and diarrhea and was pregnant at about 30 weeks. There was no contributing past history except for undergoing small bowel resection in infancy. The postmortem examination revealed multiple arborizing polyps throughout the gastrointestinal tract, chiefly in the small bowel. Intestinal obstruction was found at the proximal jejunum with necrosis, perforation, and peritonitis. Histologically, the polyps were composed of tree branch-like bundles of smooth muscle covered by normal-appearing glandular epithelium, confirming the diagnosis of hamartomatous polyps. No malignant or premalignant lesions were detected in the gastrointestinal tract or other organs. This case was an opportunity to analyze the natural history and the pathological features of the Peutz-Jeghers syndrome in an adult and to investigate the presence of neoplastic lesions associated with this condition.

A Case of Gardner's Syndrome Associated with Desmoid Tumor

Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner's syndrome. Herein, we report a 16-year-old woman with Gardner's syndrome complicated by desmoid tumors on the right subscapular area.

Estudo da mucosa enteral de reservatórios em "j" em cães

Total proctocolectomy with enteral reservoir is, at present, the best technique used for the surgical treatment of some large intestine diseases involving the whole colon. In order to study the characteristics of the "J" reservoir enteral mucosa, thirty-six dogs underwent surgery. After resection of 5cm of the jejunum caudalis the animals were divided into two equal groups (GI and GII) for study-control. In GI, an entero-enteral end-to-end anastomosis was performed; in GII, a "J" reservoir was performed in the cranialis segment of the jejunum and this pouch was anastomosed end-to-end to the jejunun caudalis (similar to GI). On the 21st, 42nd and 63rd postoperative days, six animals of each group were sacrificed for macro and microscopic studies, including cellular counting and the measuring of the enteral mucosa lamina propria. On the 21st day, both groups showed oedema and erythema on macroscopic examination, and necrosis under microscopy in similar numbers. On the 42nd and 63rd days, these alterations decreased or disappeared in GI and persisted in GII. Only in the latter group, on macroscopy, ulcers were observed on the 21st day (2 dogs) and on the 42nd day (1 dog). In both groups there was no significant difference as to the incidence of abscess under microscopy. On the 21st day there was an increase of the volumetric density of neutrophils polymorph, macrophages, eosinophils, plasma cells and lymphocites in both groups. All the cells, except the eosinophils, showed a significant enlargement of the volumetric density in GII on the 63rd day. The transversal diameter of lamina propria, except for the villi height, was significantly larger in GII on the 63rd postoperative day. It was concluded that the enteral mucosa of the "J" reservoir in dogs shows alterations of the normal pattern of macroscopy and microscopy, including the volumetric density enlargement of the inflammatory cells.

A proctocolectomia total com reservatório enteral é a principal técnica utilizada para o tratamento operatório de algumas doenças do intestino grosso. Com o objetivo de estudar as características da mucosa enteral de reservatórios em J, foram operados 36 cães. Após a ressecção de 5 cm do jejunum caudalis, para estudo-controle, os cães foram separados em dois grupos (GI e GII). No GI, foi realizada anastomose êntero-enteral término-terminal; no GII, foi feito um reservatório na forma de "J" no segmento cranialis, que foi anastomosado ao segmento caudalis da mesma forma que no GI. Aos 21, 42 e 63 dias de pós-operatório, foi realizada eutanásia de 6 cães de cada grupo para estudos macroscópico e microscópico, incluindo-se contagens celulares e medidas da lâmina própria da mucosa enteral. Os resultados revelaram, aos 21 dias, edema e enantema, à macroscopia, e necrose à microscopia, em freqüências semelhantes nos dois grupos. Aos 42 e 63 dias, essas alterações diminuiram ou desapareceram no GI e persistiram no GII. Somente neste último foram observadas úlceras à macroscopia aos 21 dias (2 cães) e 42 dias (1 cão). Não houve diferença significante à presença de abscesso, à microscopia, nos dois grupos. Na contagem celular, já aos 21 dias houve aumento da densidade volumétrica de neutrófilos, macrófagos, eosinófilos, plasmócitos e linfócitos nos dois grupos. Todas as células, exceto eosinófilos, apresentavam-se com densidade volumétrica significantemente maior no GII, aos 63 dias. O diâmetro transversal da lâmina própria, excluindo a altura dos vilos, apresentou-se significantemente maior no GII aos 63 dias de pós-operatório. Concluiu-se que a mucosa enteral de reservatórios em J, em cães, apresenta modificações do padrão de normalidade macroscópica e microscópica, entre as quais o aumento da densidade volumétrica de células inflamatórias.

Gastroduodenal Adenomas and Carcinoma in Patients with Familial Polyposis Coli

Gastric lesion in familial polyposis coli is commonly presented with fundic gland hyperplastic polyps, but duodenal and gastric adenomas together with their carcinomatous transformation have been rarely described in familial polyposis coli mostly by case reports. We present three cases of gastric adenomas in familial polyposis coli with one in synchronous development of gastric adenocarcinoma in Korea. All three cases had the family history related to familial polyosis coli and received proctocolectomy because of synchronous development of colonic adenocarcinoma. One patient developed gastric polyposis and adenocarcinoma 8 years after colectomy, and the remaining two presented with multiple polyps either in the stomach or duodenum synchronously at the time of the diagnosis of familial polyposis coli with colonic adenocarcinoma. None disclosed any evidence of Gardner's syndrome. We conclude that association of gastric adenomas in familial oplyposis coli is not uncommon and gastric adenoma-carcinoma sequence is an another important participating mechanism to understand the histogenesis of gastric carcinoma in Korea.