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Peutz-Jeghers Syndrome - JMI ArticlesArticles from our collection about Peutz-Jeghers Syndrome published about diagnosisTitle: Sonographic diagnosis of multiple small-bowel intussusceptions in Peutz-Jeghers syndrome: a case report Authors: Harris JP;Munden MM;Minifee PK; Journal: Pediatr Radiol Date: 2002 Sep Abstract: Peutz-Jeghers syndrome (PJS) is a rare, though well-described, hereditary polyposis syndrome associated with mucocutaneous pigmentation that typically presents in the second decade of life with complications related to intestinal polyps. We present two cases of teenaged girls presenting with small-bowel intussusceptions within a 3-month period. Sonographic examinations readily revealed small-bowel intussusceptions with secondary small-bowel obstruction. In both the symptoms were less severe than one would expect given the underlying pathology found at subsequent surgery. Sonographic imaging with pathologic correlation is provided Link: Click for Pubmed record Title: Polyposis syndromes of the gastrointestinal tract: MR findings Authors: Semelka RC;Marcos HB; Journal: J Magn Reson Imaging Date: 2000 Jan Abstract: We describe the magnetic resonance (MR) findings in patients with gastrointestinal polyposis syndromes using breath-hold T1-weighted sequences, both standard and with fat suppression, prior to and following gadolinium administration, and breathing-independent single-shot half-Fourier RARE T2-weighted sequences. Six patients with gastrointestinal polyposis syndromes underwent MR examination to investigate for the presence of metastatic disease. The appearances of the gastrointestinal polyps on noncontrast T1-weighted spoiled gradient-echo (SGE), T2-weighted (half-Fourier RARE) images, and early and late gadolinium-enhanced SGE images were determined. Other gastrointestinal findings and extragastrointestinal disease were also evaluated. Patients with the following gastrointestinal polyposis syndromes were included: familial polyposis (n = 3), Peutz-Jeghers syndrome (n = 1), Gardner's syndrome (n = 1), and neurofibromatosis (n = 1). Polypoid lesions in all patients exhibited signal intensity comparable to bowel on noncontrast images and enhanced similar to bowel on early and late gadolinium-enhanced images. Polyps larger than 2 cm, observed in one patient with familial polyposis and the patient with Gardner's disease, showed mild heterogeneity on late gadolinium-enhanced fat-suppressed images. Multiple colonic polyps ranging from 5 mm to 3 cm in diameter were observed in patients with familial adenomatous polyposis. A solitary 1.5 cm polyp associated with entero-enteric intussusception was observed in the patient with Peutz-Jeghers syndrome. Gastric polyps ranging from 5 mm to 6 cm were observed in the stomach of the patient with Gardner's syndrome. Duodenal and jejunal neurofibromas ranging from 1 to 2 cm in diameter were present in the patient with neurofibromatosis. Extra gastrointestinal findings included an adrenal adenoma (1 patient), a pheochromocytoma (1 patient), and liver metastases (2 patients). Gastrointestinal polyps in patients with polyposis syndromes may be visualized on MR images employing breath-hold T1-weighted and breathing-independent snapshot T2-weighted techniques. Appreciation of polyp enhancement on post-gadolinium images is an important finding, which should help distinguish polyps from bowel contents Link: Click for Pubmed record Title: Peutz-Jeghers syndrome: is family screening needed? Authors: Baumgartner G;Neuweiler J;Herzog D; Journal: Pediatr Surg Int Date: 2000 Abstract: 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 Link: Click for Pubmed record Title: Gastrointestinal bleeding and gastric outlet obstruction from Peutz-Jeghers polyposis. Diagnosis and treatment Authors: Corley DA;Uyeki TM;Cello JP; Journal: West J Med Date: 1997 May Abstract: Link: Click for Pubmed record Title: Overview of screening and management of familial adenomatous polyposis Authors: Rhodes M;Bradburn DM; Journal: Gut Date: 1992 Jan Abstract: The rarity of familial adenomatous polyposis (FAP) means that many clinicians may be unaware of the major advances that have taken place in screening for the condition over the past five years. This review is not only to document the current scene but also to give details of those involved in establishing registries throughout the country. FAP is a hereditary disorder which carries with it almost a 100% risk of colorectal cancer. The aim of screening is to detect gene carriers before they present with symptoms attributable to colonic polyps. In this way the incidence of colorectal cancer can be greatly reduced. The use of gene probes to identify patients with FAP is in its infancy but in selected pedigrees gene carriers can be identified using a venous blood sample. The recognition that congenital hypertrophy of the retinal pigment epithelium is an extracolonic manifestation of FAP in most pedigrees allows non-invasive ophthalmological screening of relatives at risk. The combination of these new screening methods with an effective regional registry for FAP can increase the number of patients detected by screening rather than by symptoms. This facilitates appropriate prophylactic surgery and reduces mortality related to colorectal cancer Link: Click for Pubmed record Title: Small-intestinal involvement in familial polyposis diagnosed by operative intestinal fiberscopy: report of four cases Authors: Ohsato K;Yao T;Watanabe H;Iida M;Itoh H; Journal: Dis Colon Rectum Date: 1977 Jul Abstract: Operative intestinal fiberscopy, in which the duodenal fiberscope was introduced during laparotomy for colectomy in familial polyposis via the enterotomy opening, permitted the demonstration of small intestinal polyps in six of seven consecutive cases. Four of the six patients had adenomatous polyps in the proximal jejunum, including one patient with the concomitant presence of ileal adenomas. Polyposis due to lymphoid hyperplasia in the terminal ileum was found in three patients. Preoperative upper gastrointestinal surveys revealed adenomas in the duodenums of all seven patients, adenomas in the gastric antrum in three, and multiple hamartomas in the gastric corpus in two. Thus, in familial polyposis or Gardner's syndrome, more or less the entire gastrointestinal tract seems to be involved and the term 'gastrointestinal polyposis' seems to describe these conditions Link: Click for Pubmed record Title: Endoscopy in the Peutz-Jeghers syndrome Authors: Kurtz RC;Winawer SJ;Sherlock P; Journal: Am J Gastroenterol Date: 1974 Feb Volume: 61 Issue: 2 Abstract: Link: Click to read article Title: METHOD FOR EARLY DETERMINATION OF SEX Authors: WILLIAM O. ROBERTSON Journal: CURRENTS IN INFANT CARE Date: 1957 Abstract: HORMONE STUDIES TO DETERMINE SEX ARE DIFFICULT TO OBTAIN AND MAY NOT BE CONCLUSIVE IN INFANTS AND YOUNG CHILDREN. THE BARR TECHNIC OF CHROMOSOMAL SEX DETERMINATION OFFERS A SIMPLE AND ACCURATE TEST FOR THE DIFFERENTIATION OF TRUE AND PSEUDOHERMAPHRODITES, BUT REQUIRES A SKIN BIOPSY. HERRMANN AND DEVISE USING A VARIATION OF THIS METHOD, HAVE FOUND THAT ORAL SCRAPINGS PROVIDE COMPARABLE ACCURACY. Link: Click to read article Title: THE RADIOLOGICAL DIAGNOSIS OF EROSION OF THE GASTRIC MUCOSA Authors: W. FRIK, R. HESSE Journal: GERMAN MEDICAL MONTHLY Date: 1956 Abstract: Link: Click to read article Title: MELANIN SPOTS: DIAGNOSTIC SIGNIFICANCE IN POLYPOSIS Authors: R. M. POOL, CHARLES E. GUICE, J. L. FARRINGER, JR. Journal: ANNALS OF SURGERY Date: 1955 Abstract: THE ASSOCIATION OF MELANIN SPOTS ON THE EPITHELIUM WITH INTESTINAL POLYPS APPEARS TO HAVE BEEN FIRST RECOGNIZED BY PEUTZ, WHO DESCRIBED THE SYNDROME IN 1921. SINCE THAT TIME, ONLY 39 CASES HAVE BEEN REPORTED, THOUGH THE ACTUAL INCIDENCE IS PROBABLY FAR HIGHER THAN IS INDICATED BY THE LITERATURE. Link: Click to read article Title: GENERALIZED INTESTINAL POLYPOSIS AND MELANIN SPOTS OF THE ORAL MUCOSA, LIPS AND DIGITS: A SYNDROME OF DIAGNOSTIC SIGNIFICANCE Authors: HAROLD JEGHERS, VICTOR A. MCKUSICK, KERMIT H. KATZ Journal: NEW ENGLAND JOURNAL OF MEDICINE Date: 1949 Abstract: IN 1944, A BRIEF REPORT WAS MADE BY ONE OF US REGARDING THE ASSOCIATION, IN 2 PATIENTS, OF A DISTINCTIVE TYPE OF MELANIN PIGMENTATION OF THE ORAL MUCOSA, LIPS AND DIGITS WITH INTESTINAL POLYPOSIS. SINCE THEN 10 CASES, INCLUDING THE 2 REFERRED TO ABOVE, HAVE BEEN COLLECTED FROM FIVE DIFFERENT HOSPITALS AND ARE REPORTED HERE IN DETAIL ALONG WITH A REVIEW OF PERTINENT LITERATURE AND A DISCUSSION OF THE SIGNIFICANCE OF THIS SYNDROME. Link: Click to read article
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Jeghers Medical Index, St. Elizabeth Health Center, 1044 Belmont Ave., Youngstown, OH 44501
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