Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening.
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Biomedical subjects
Publications and source records attributed to W Hyer.
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The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.
Desmoids are uncommon proliferations of fibroblasts that occur with disproportionate frequency in patients with familial adenomatous polyposis. They do not metastasize and are histologically benign. Despite this, the unpredictable and often aggressive nature of familial adenomatous polyposis-associated desmoids and their tendency to occur in intra-abdominal sites means that they present a difficult management problem, and they are a leading cause of death in patients with familial adenomatous polyposis who have undergone colectomy. We report a case of a patient with familial adenomatous polyposis who had extensive and aggressive desmoid disease and whose management was further complicated by a large intrahepatic desmoid. There are no previous reports of desmoids occurring in the liver.
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In children with complicated inflammatory bowel disease, conventional ultrasound imaging may not define the extent of extraluminal disease and the involvement of other viscera. Three children with chronic inflammatory bowel disease are presented, where computed tomography was well tolerated and provided valuable information on extraluminal disease, involvement of other organs, and the state of the bowel wall and mesentery. In children in whom ultrasound examination is inconclusive or limited by gas or tenderness, computed tomography can provide important information that may determine clinical management.
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