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Current diagnostic alternatives for lesions of the small intestine are sometimes insufficient. Peroperative enteroscopy is presented as a useful method to identify and treat intestinal polyposis and angiodysplasias that can not be found by other methods. This technique was used on two patients. In both cases, this procedure was helpful and the appropriate treatment successfully completed.
A girl with a family history of Gardner's syndrome presented with an actively growing central lesion of the mandible and localized subcutaneous fibrous hyperplasia which required surgical intervention and bone grafting. The importance of this syndrome is the development of intestinal polyposis which become malignant. The presence of dentofacial stigmata and surface tumors should alert the dentist and physician to the possibility of Gardner's syndrome.
HISTORY AND FINDINGS: A 56-year-old man was admitted to hospital because of chronic diarrhoea. 15 months earlier he had begun to notice changes in taste sensation, then nail discoloration and dystrophy as well as alopecia areata. On examination he was also found to have lower leg oedema and cutaneous hyperpigmentation. INVESTIGATIONS: Biochemical tests showed hypoproteinaemia with reduced serum total protein (4.2 g/dl) and albumin concentrations (2.0 g/dl), hypokalemia and hypocalcaemia, as well as zinc and vitamin B12 deficiency. Stool alpha 1-antitrypsin was raised to 5.9 mg/g. Erythrocyte sedimentation rate was 17/26 mm and C-reactive protein was raised to 6.9 mg/dl. Gastroscopy, coloscopy and small-intestine double contrast radiology (after Sellink) demonstrated multiple polyps, histologically revealing pseudopolypoid-inflammatory changes with cystic dilatation, consistent with Cronkhite-Canada syndrome (CCS), a condition characterised by the described endoscopic, radiological and histomorphological changes together with the characteristic ectodermal abnormalities. TREATMENT AND COURSE: At first only symptomatic measures were taken: fluid, electrolyte and protein infusions and administration of zinc and vitamin B12. Stool frequency was regulated by diet and medication. The patient was discharged in much improved general condition and closely followed clinically and endoscopically because of the relatively poor prognosis and frequent occurrence of adenomatous polyps which are at a high risk of malignant degeneration. CONCLUSIONS: In the differential diagnosis of generalised intestinal polyposis only careful investigation by endoscopy and radiology of the entire gastrointestinal tract with biopsies can identify CCS. While treatment is largely symptomatic, its poor prognosis calls for new therapeutic measures.
In a 7-year-old boy, a small-bowel polyp was found intraoperatively as a lead point of an intussusception. Histologically, a hamartoma was found and the clinical work-up revealed Peutz-Jeghers syndrome (PJS). Additionally, all four asymptomatic siblings showed intestinal polyposis. All children in a family with PJS should be properly investigated. In case of an intussusception with a polyp in a critical location, a surgical procedure should follow.
Gangliocytic paraganglioma in a female of 64 years of age with stones in the gall bladder, atrophic liver cirrhosis and gastro-intestinal polyposis is described in the Russian literature for the first time. Polyps of the rectum and sygmoid were removed within 15 years. The same pathology was described by other authors. It is possible that the occurrence of paraganglioma and polyps was of genetical nature. The tumor was detected at gastroduodenoscopy. Biopsy diagnosis varied from polymorphocell liposarcoma and malignant fibrous histiocytoma. Endoscopic tumor electroexcision was complicated by intestinal bleeding that followed by an urgent laparatomy, duodenotomy and suture of the bleeding vessel in the duodenal wall. Bleeding zone in the duodenum was 3 cm from papilla Vateri. Analysis of difficulties in clinical and morphological differential diagnosis is performed.
The thesis is presented that progression, in both neoplastic and nonneoplastic disorders, involves a common biological mechanism. This view derives from the author's unified theory of growth and age-dependent disease. Diseases that show a reproducible age-dependence, satisfying certain statistical criteria, are held to be initiated by random 'errors'--somatic gene mutations--in stem cells of the central system of growth-control. A specifically mutant stem cell propagates a "forbidden clone' (Burnet) of descendant cells and these cells, or their secreted humoral products, attack target cells at one or more anatomical locations. In certain disorders, a single forbidden clone gives rise to the first detectable symptoms and signs but progression of the disease depends on the (random) formation of further forbidden clones that attack additional target cells. This theory is discussed with reference to the neoplastic disorders, familial intestinal polyposis and tumours of the uterine cervix; and the non-neoplastic disorders, Parkinsonism and male baldness. Related problems concerning the fatal crisis in malignant disease and the unifocal/multifocal origin of tumours are also discussed.
UNLABELLED: Extended intestinal resections constitute a primary surgical problem, and in numerous cases there is the necessity of programming an appropriate nutrition, including parenteral nutrition at patient's home. The aim of the work was to examine treatment problems: surgery indications, complications and the after-effects of extended intestinal resections as well as the procedure rules. MATERIALS AND METHODS: The group of 51 patients with extended intestinal resections who were subjected to treatment in the years 1988-2002. The group was comprised of 25 female patients with the average age 64.2 years (34-86) and 26 male patients at the age of 56.3 (21-72). RESULTS: Extended intestinal resections resulted from: cancer--30, ischemia (embolism, thrombosis)--12, injury--3, inflammatory bowel diseases--2, intestinal polyposis--2, diverticulosis with hemorrhages--1, toxic necrosis--1.9 deaths were recorded within the post-operative period: 7 (that is 7 of 12) due to ischemia, 1 due to cancer, 1 due to colon toxicum. The overall mortality rate was 17% (that is 9 deaths of all the 51 patients); the highest rate reached as much as 58.3% in the ischemia cases. The most frequent reason of the deaths following extended intestinal resections performed due to ischemia of intestine was: the impossibility of hemodynamic stabilization--3, the escalation of intestinal ischemia and septic shock--2, simultaneously both causes--2. The average length of time between admittance to hospital and surgical intervention was 5.1 days (0-31); the average length of stay in hospital amounted to 20.8 days (2-102). CONCLUSIONS: Extended intestinal resections were the most frequently performed due to neoplastic or vascular reasons. Such surgical interventions are fraught with a high risk of complications and deaths. Furthermore, the foregoing surgeries demand a very expensive therapeutic procedure including the post-operative parenteral nutrition.
The pathology of schistosomiasis in an autopsy material consisting of medico-legal cases and unclaimed bodies in the Sudan is described. The limitations of this type of study are pointed out. S. mansoni-infection and S. haematobium-infection occurred with a frequency of 14.3 per cent and 4.5 per cent of autopsies respectively. There was a geographical difference in the severity of S. mansoni-infection in two endemic areas in the country; it was particularly severe in patients coming from Bor area in the Southern Sudan. In autopsies with S. mansomi-infection intestinal polyposis and cor pulmonale were rarely encountered. The distribution of eggs in the tissues, using digestion studies, and the relationship of tissue egg load to pathology are reported and discussed.
Nuchal-type fibroma is a distinct subcutaneous and dermal fibrous tissue proliferation that has been previously definitely identified in one patient with Gardner's syndrome and has been possibly present in two others. Gardner's syndrome is an autosomal-dominant condition with variable expressivity that comprises epidermoid cysts, fibrous tumors, osteomas, intestinal polyposis, as well as other findings. We report two cases of nuchal-type fibroma presenting in a 13-year-old boy in the right upper back and in his 60-year-old grandfather in the upper chest at the posterior axillary line. Both individuals carried a diagnosis of Gardner's syndrome and neither of them had diabetes. Although the boy has as of now only presented with cutaneous manifestations of Gardner's syndrome, his grandfather has exhibited both cutaneous and intestinal evidence of this syndrome. In addition, the boy's mother and her sister have documented Gardner's syndrome. Light microscopic findings of nuchal-type fibroma from both patients include paucicellular, haphazardly arranged collagen bundles with entrapped adipose tissue. A marked diminution of elastic fibers was noted with Van-Gieson stains. The lesions were diffusely positive for CD34 and contained a few factor XIIIa-positive cells. Electron microscopic analysis revealed no differences between the collagen comprising the nuchal-type fibroma as compared with control dermal collagen obtained from skin away from the tumor. These cases strengthen the view that there is an association between nuchal-type fibroma and Gardner's syndrome.
A solitary Peutz-Jeghers-type polyp of the rectum in a 64-year-old Japanese man is reported. Barium enema and endoscopic examination revealed a solitary polypoid lesion in the rectum. The polyp was pedunculated, and measured 2 x 1.5 x 1.5 cm. The patient had neither mucocutaneous pigmentation nor a family history of gastro-intestinal polyposis. Histopathologically, this polyp had an arborizing muscular network originating from the muscularis mucosa, and was covered by well organized mucosa with epithelial hyperplasia. The smooth muscle bundles in the polyp were thicker than those seen in Peutz-Jeghers syndrome, but their network was not as complex.
PURPOSE: To report the association of an orbital osteoma with Gardner's syndrome (familial polyposis coli leading to carcinoma, multiple osteomas and skin and soft tissue tumours). METHOD: A review of patient records. RESULTS: A 29-year-old male with known Gardner's syndrome presented with long-standing right proptosis due to an osteoma of the medial wall and roof of the orbit. He had previously had prophylactic colectomy and one other osteoma of the skull excised. CONCLUSION: Although orbital osteoma in the setting of Gardner's syndrome is rare, it should be recognized as an association because of the importance of the intestinal polyposis, which leads to carcinoma if untreated.
The authors review a single case history of intestinal polyposis (Peutz-Jeghers syndrome) of a patient followed by them for eleven years. The paper includes a review of the pertinent literature. The present case was diagnosed as a result of the clinical observation of pigmented spots in the oral mucosa and crises of spasmodic abdominal pain accompanied by bowel movements containing mucus and blood. In other members of the family only a younger sister had slightly pigmented spots in the oral mucosa. None had radiologic findings suggestive of the syndrome of Peutz-Jeghers. Recently the patient under study suffered an intestinal intussuception which led to the surgical resection of a segment of small intestine and permitted pathologic confirmation of the diagnosis. Surgical resection of nodules in both breasts resulted in diagnoses of sclerosing adenosis in the left and an epidermoid cyst in the right.
A case report of a 34-year-old female with the Cronkhite-Canada syndrome is presented. The patient developed the characteristic clinical features of intestinal polyposis, skin pigmentation, alopecia, and onychodystrophy which later resolved. An unusual feature was that symptoms developed during the postpartum period. This is the youngest female patient described with the syndrome. The etiology, pathophysiology, clinical manifestations, and management of the Cronkhite-Canada syndrome are reviewed.
In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDD), which is a hamartomatous overgrowth of cerebellar tissue, and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC 1 gene, a tumor suppressor gene, have been found in families with CS, including four patients in whom LDD was diagnosed. The authors present a case of LDD in a 53-year-old woman who also had the typical mucocutaneous lesions found in CS, as well as goiter and intestinal polyposis. In this case, CS had never been suspected until the diagnosis of LDD was made. The mutation detected in the PTEN/MMAC 1 gene as well as neuropathological results are described.
Colorectal cancer in humans results from sequential genetic changes in intestinal epithelia commencing with inactivation of the APC tumor suppressor gene. Roles for host immunity in epithelial tumorigenesis are poorly understood. It has been previously shown that CD4+CD25+ lymphocytes inhibit colitis-associated epithelial tumors in Rag-deficient mice. Here we show that addition of CD4+CD25+ lymphocytes in ApcMin/+ mice reduces multiplicity of epithelial adenomas. Interleukin-10 was required in regulatory cells for therapeutic effect. Recipients of regulatory cells showed increased apoptosis and down-regulation of cyclooxygenase-2 within tumors coincident with tumor regression. These data suggest a role for regulatory lymphocytes in epithelial homeostasis in the ApcMin/+ mouse model of intestinal polyposis. Similarities with cancer of the breast, prostate, lung, and other sites raise the possibility of broader roles for regulatory lymphocytes in prevention and treatment of epithelial cancers in humans.
Six hundred fifty-seven patients with colorectal cancer who were operated upon at the Second Department of Surgery, Helsinki University Central Hospital during the period 1966 to 1975 had a 40.5 per cent crude five-year survival rate and 54.2 per cent relative (corrected) rate. The survival rates of patients with Dukes' A lesions were 80.7 per cent, Dukes' B, 61.6 per cent, Dukes' C, 40.4 per cent, and Dukes' D, 2.7 per cent. One hundred two patients (15.5 per cent) underwent emergency operations; 91 were occlusive cancers, eight were perforations and three were cancer bleedings. The operative mortality for the whole series was 6.5 per cent (4.7 per cent in elective and 16.7 per cent in emergency operations). A definite improvement of the five-year survival rates could be seen in both the colonic and rectal cancer series. This was due to earlier detection of the disease, reflecting a decreasing number of palliative operations. Patients at high risk for colorectal cancer (inflammatory bowel disease, inherited intestinal polyposis, cancer family syndrome, multiple colorectal cancers, and neoplastic polyps) might benefit from more effective cancer surveillance and prophylactic surgery to find and treat cancers in earlier stages, to prevent recurrences, and to facilitate follow-up. The controversial findings on postoperative adjuvant therapy presented in this study indicate the need for further controlled studies to define the patients who really benefit from it.
The early appearance of "hard" and "soft" tumors should give cause to search regularly for intestinal polyposis. Once the diagnosis is made prophylactic total colectomy with ileorectal anastomosis is justified. With regard to a polyposis of the upper gastrointestinal tract, there is room for observation. The possibility of a peripapillary carcinoma with or without simultaneous involvement of stomach and duodenum must be reckoned with even years after a colectomy. Postoperative mesenteric fibroses and widespread adhesions are responsible for subileus and ileus. Because of their tendency to recur, desmoid tumors should only be treated operatively when this appears unavoidable by reason of local symptoms.
A 71-year-old man with characteristic clinical and pathological pictures of Cronkhite-Canada syndrome associated with gastric cancer is presented. Histological examinations of gastric and colonic polyps which resembled juvenile type revealed no malignant cells. The patient slowly recovered after subtotal gastrectomy and elemental diet supplement with antiplasmin agents. As for as is known to the authors, a total of 69 cases with this syndrome were reported in Japan including our patient. Of these cases 8 had cancer of the gastrointestinal tract. Two of them, including our case, had gastric cancer. Another one was associated with gastric cancer but not intestinal polyposis. The remaining 5 cases were associated with colonic cancer. Caution must be paid to the fact that cachexia or malabsorption in some patients with this syndrome results from gastrointestinal malignancy. The prognosis of this syndrome consisted of 20 deaths including 2 postoperative deaths, 33 of improvement including 4 of natural remission and 4 of remission after gastrectomy or colectomy, 7 unchanged and the remainder not described.