• Imaging Science in Dentistry
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• v.46 no.4
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• pp.267-272
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• 2016

Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

• The Korean Journal of Gastroenterology
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• v.72 no.6
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• pp.277-280
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• 2018

Although small bowel the mainly occupies the most part of the gastrointestinal tract, small intestine tumors are rare, insidious in clinical presentation, and frequently represent a diagnostic and management challenge. Small bowel tumors are generally classified as epithelial, mesenchymal, lymphoproliferative, or metastatic. Familial adenomatous polyposis and Peutz-Jeghers syndrome are the most common inherited intestinal polyposis syndromes. Until the advent of capsule endoscopy (CE) and device-assisted enteroscopy (DAE) coupled with the advances in radiology, physicians had limited diagnostic examination for small bowel examination. CE and new radiologic imaging techniques have made it easier to detect small bowel tumors. DAE allows more diagnosis and deeper reach in small intestine. CT enteroclysis/CT enterography (CTE) provides information about adjacent organs as well as pictures of the intestinal lumen side. Compared to CTE, Magnetic resonance enteroclysis/enterography provides the advantage of soft tissue contrast and multiplane imaging without radiation exposure. Treatment and prognosis are tailored to each histological subtype of tumors.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.6 no.2
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• pp.208-214
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• 2003

Juvenile polyposis is an uncommon condition characterized by the development of multiple juvenile polyps predominantly in the colon but also in the rest of the gastrointestinal tract. Patients with juvenile polyposis commonly present with rectal bleeding, diarrhea, abdominal pain, anemia, prolapse of the polyp. We experienced a juvenile polyposis in a 7 year-old male patient with protein losing enteropathy who was diagnosed by $^{99M}Tc$-human serum albumin abdominal scintigraphy, colonoscopy, and small bowel series. Proctocolectomy with ileostomy was performed and then protein losing enteropathy was resolved.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6945-6948
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• 2014

Background: Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. Materials and Methods: 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Results: Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Conclusions: Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.1
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• pp.115-120
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• 2020

Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by a triad of abnormal bone and soft tissue growth, the presence of a port-wine stain, and venous malformations. Gastrointestinal (GI) manifestations of KTS are relatively common and generally do not cause significant problems. However, persistence can lead to chronic GI blood loss or even massive bleeding in rare cases. The majority of the severe GI manifestations associated with KTS present as vascular malformations around the GI tract and exposed vessels can lead to serious bleeding into the GI tract. Herein, we report a case of a 16-year-old boy with severe iron deficiency anemia who was previously misdiagnosed as hemorrhoid due to small amount of chronic bleeding. The actual cause of chronic GI bleeding was from an uncommon GI manifestation of KTS as rectal polyposis.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.35 no.6
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• pp.421-426
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• 2013

Gardner syndrome, an autosomal dominant inherited condition, is a subtype of familial adenomatous polyposis. It causes lesions in bones, skin, and teeth, as well as multiple gastrointestinal polyps, which, if left untreated, become malignant. Because patients with colorectal cancer have a low survival rate, early diagnosis and treatment of Gardner syndrome is critical. Therefore, the characteristic lesions of Gardner disease that appear on the face, jaws, and oral cavity must be understood; these can be evaluated by oral and maxillofacial clinicians. This report describes a case that was diagnosed and treated earlier with the help of a routine oral and maxillofacial examination and has had a seemingly good prognosis so far.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.112-118
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• 2004

Cowden syndrome is very rare clinical condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. Here, the case of a 16-year-old girl with diverse gastrointestinal polyposis with breast and thyroid lesions is reported as a definite case of Cowden syndrome. During follow up for 4 years, changes in the characteristic lesions were observed; Esophageal acanthosis and oropharyngeal polyps were newly developed. Gastric, duodenal, rectal and ileal polyps were noted at the first visit when she was 12 years of age and revealed histologically hyperplastic polyps. Mucocutaneous lesions, the pathognomonic finding of Cowden syndrome, were not noted at the first visit or during the follow up period. Breast and thyroid masses were noted at the first visit. Breast aspiration showed highly cellular ductal epithelial fragments and fibroblastic stromal cell fragments, and a thyroid biopsy shows proliferation of irregular sized follicles, with variable colloid contents. Macrocephaly was also noted at the first visit. The characteristic lesions of Cowden syndrome change with the patient's age, and the long-term follow up is recommended in cases suspected with this syndrome.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.13 no.1
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• pp.1-6
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• 2010

The small bowel is the most difficult intestinal segment to examine. Radiologic tests are mostly insensitive and double-balloon enteroscopy is unsuitable for the younger child. Capsule endoscopy is a novel wireless method of investigation of the small bowel. The primary indications for capsule endoscopy include evaluation of obscure gastrointestinal bleeding, small bowel Crohn's disease, and polyposis syndromes. Capsule endoscopy offers an accurate and effective means of investigating the small bowel in children. Capsule retention is a potential complication of capsule endoscopy. This review provides the indications, safety, and limitations of wireless capsule endoscopy in children.

• Journal of Digestive Cancer Reports
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• v.9 no.2
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• pp.60-67
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• 2021

Tumors of the small intestine are rare and generally asymptomatic or with nonspecific symptoms. The small intestine is difficult to approach using conventional endoscopy, and early diagnosis of the small intestinal tumors is difficult. Therefore, many of the small intestinal tumors are diagnosed at an advanced stage, which makes the prognosis poor. Premalignant lesions of the small intestine or known risk factors of small bowel cancer are sporadic adenoma, adenoma associated with familial adenomatous polyposis, hamartomatous polyp associated with Peutz-Jeghers syndrome, Crohn's disease, and celiac disease. Therefore, it is necessary to recognize that the small bowel cancer can occur in these patients with premalignant lesions or risk factors of small bowel cancer. To reduce the possibility of small bowel cancer or to detect at an earlier stage, attention should be paid to screening and surveillance of these patients with premalignant lesions or risk factors of the small bowel cancer.

• Advances in pediatric surgery
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• v.3 no.1
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• pp.54-60
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• 1997

Eight pediatric patients with Peutz-Jeghers syndrome were treated from 1984 to 1994 at the Department of Surgery, Seoul National University Children's Hospital. We reviewed the clinical features of our own 8 cases as well as 56 cases reported in Korean literatures. The results were compared to those of western reports. Gastrointestinal complications in our series were more frequent than in the Korean series, but the distribution of polyps was similar. The Korean series showed the following characteristics compared to the western reports; demographic backgrounds were similar; gastrointestinal symptoms were more common; location of the polyp was more frequent in colon (2 times); and the most prevalent site of malignant change was the colon in Korean cases.