- Email: [email protected]
Wireless capsule enteroscopy (Given®) in a case of Cowden syndrome
Correspondence / Digestive and Liver Disease 38 (2006) 149–152
151
[7] Pitiakoudis M, Tsaroucha A, Mimidis K, Constantinidis T, Anagnostoulis S, Stathopoulos G, et al. Esophageal and small bowel obstruction by occupational bezoar: report of a case. Gastroenterol 2003;3:13. [8] Hayes PG, Rotstein OD. Gastrointestinal phytobezoars: presentation and management. Can J Surg 1986;29:419–20. [9] Lee J. Bezoars and foreign bodies of the stomach. Gastrointest Endosc Clin N Am 1996;6:605–19.
E. Aoun H. Abdul-Baki Z. Berro A.I. Sharara ∗ Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon ∗ Corresponding
Fig. 2. Endoscopic picture of the gastric bezoar prior to removal.
author at: Division of Gastroenterology, Box 16-B, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El-Solh 110 72020, Beirut, Lebanon. Tel.: +961 1 350000x5351; fax: +961 1 366098. E-mail address: [email protected] (A.I. Sharara) doi: 10.1016/j.dld.2005.10.006
Symptoms resulting from gastric bezoars are highly variable and often non-specific. They mainly depend on size, location and degree of disturbance of gastric physiology and may include nausea, vomiting and weight loss [1,2]. Reports of bezoars resulting in obstruction (mostly phytobezoars) have been published since the late 18th century [3,4]. A minority of bezoars migrates and results in either oesophageal (reverse migration) or intestinal obstruction [5–9]. Our patient presented with intermittent postprandial vomiting with weight loss as primary manifestations. With the absence of an obvious alternative aetiology for her intermittent symptoms, we conclude that the bezoar resulted in a ball-valve effect intermittently obstructing the gastric outlet. To our knowledge, this is the first case of gastric bezoar resulting in such an effect. Conflict of interest statement None declared.
References [1] Allred-Crouch AL, Young EA. Bezoars—when the ‘knot in the stomach’ is real. Postgrad Med 1985;78:261–5. [2] Zarling EJ, Thompson LE. Nonpersimmon gastric phytobezoar. A benign recurrent condition. Arch Intern Med 1984;144: 959–61. [3] Madura MJ, Naughton BJ, Craig RM. Duodenal bezoar: a case report and review of the literature. Gastrointest Endosc 1982;28: 26–8. [4] Andrus CH, Ponsky JL. Bezoars: classification, pathophysiology, and treatment. Am J Gastroenterol 1988;83:476–8. [5] Rodriguez Cuartero A, Gonzalez Martinez F. Gastric perforation from a bezoar. Rev Esp Enferm Dig 1994;86:558–9. [6] Kilam SK, Cohen MM. Small-bowel obstruction after conservative treatment of gastric bezoar. Can J Surg 1986;29:369–71.
Wireless capsule enteroscopy (Given® ) in a case of Cowden syndrome Sir, Cowden Syndrome (CS) or ‘multiple hamartoma syndrome’, first described by Lloyd and Dennis [1] in 1963, is a rare autosomal dominant condition with variable expression that results from a mutation in the tumour suppressor gene phosphatase and tensin homologue (mutated in multiple advanced cancers 1) ‘PTEN’ on chromosome arm 10q. The syndrome causes hamartomatous neoplasms of the skin and mucosa, gastrointestinal tract, bones, central nervous system (CNS), eyes and genitourinary tract. It is also associated with increased susceptibility to thyroid and breast cancer and endometrial carcinomas in females, as well as to non-cancerous conditions of the breast and thyroid [2]. In our report, CS was diagnosed in a 36-year-old female primarily on the basis of multiple papules on the face and neck diagnosed as trichilemmona, hyperkeratotic areas on the palms of both hands and multiple intraoral papillomatosis lesions. At 45 years of age, the patient underwent total thyroidectomy for multinodular goitre. Fibroadenomas of the breast were also detected. At 49 years of age, bilateral adnexectomy was performed due to a cyst on the ovary and, at that time, positivity for a novel mutation of the PTEN gene was confirmed [3]. The patient (53 years) was kept under observation and submitted to oesophagogastroduodenoscopy (EGD) and colonoscopy. EGD revealed oesophageal acanthosis, oesophagogastric junction polyp and other fundus polyps
Correspondence / Digestive and Liver Disease 38 (2006) 149–152
152
CS, however, is associated with dermatological lesions, the gastrointestinal tract being involved in only 40% of the patients. No definite increase in the risk of colorectal carcinoma has been documented, due to the rare occurrence of this syndrome [5]. Conflict of interest statement None declared.
References
Fig. 1.
defined as hyperplastic. Colonoscopy showed inflammatory polyps and an adenoma with low-grade dysplasia (LGD). The patient’s small bowel was explored by wireless capsule endoscopy (Given® ). Various minimal polyps (four) in different tracts of the jejunum (Fig. 1) and vascular ectasia in the ileum were found. Enteroscopy was planned in order to perform histological examinations in the attempt to define the nature of the polyps but the patient refused to undergo this procedure. The incidence of CS, before gene identification, was estimated to be one in a million in a Dutch population based on a clinical epidemiological study. However, after gene identification, this figure was reported to be 1 in 200,000, which is almost certainly an underestimation [3]. Skin lesions in the head and neck area are the disorders most frequently reported, with dermal manifestations being found in 99% of the cases. Other hamartomas frequently occurring in CS include breast fibroadenomas in 70% of the affected females. The second area most commonly involved is the CNS. CS, associated with cerebellar gangliocytomatosis, is referred to as the Lhermitte-Duclos syndrome. Thyroid adenomas and multinodular goitre have been shown in 40–60% of all CS patients, and gastrointestinal polyps are present in 35–40% of the affected individuals [4]. However, bearing in mind the similarities between CS and other intestinal polyposes, we decided to study the small bowel using a highly specific investigation.
[1] Lloyd KM, Dennis II M. Cowden’s disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136–42. [2] Fachenthal JD, Marsh DJ, Richardson AL, Cumming SA, Eng C, Robinson BG, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutation. J Med Genet 2001;38:159–64. [3] Scala S, Bruni P, Lo Muzio L, Mignogna M, Biglietto G, Fusco A. Novel mutation of the PTEN gene in an Italian Cowden’s disease kindred. Int J Oncol 1998;13:665–8. [4] Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RT, Ahmed SF, et al. PTEN mutation spectrum and genotype–phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Gen 1999;8:1461–72. [5] Fistarol SK, Anliker MD, Itin PH. Cowden disease or multiple hamartoma syndrome—cutaneous clue to internal malignancy. Eur J Dermatolol 2002;12:411–21.
G. Riegler ∗ I. Esposito P. Esposito M. Bassi A. Ursillo Gastrointestinal Unit, University of Naples, Piazza Miraglia 2, Naples, Italy R. Bennato A. Balzano Gastrointestinal Unit, Cardarelli Hospital, Naples, Italy
∗ Corresponding author. Tel.: +39 081 566 5116; fax: +39 081 566 5112. E-mail address: [email protected] (G. Riegler)
doi: 10.1016/j.dld.2005.09.019
151
[7] Pitiakoudis M, Tsaroucha A, Mimidis K, Constantinidis T, Anagnostoulis S, Stathopoulos G, et al. Esophageal and small bowel obstruction by occupational bezoar: report of a case. Gastroenterol 2003;3:13. [8] Hayes PG, Rotstein OD. Gastrointestinal phytobezoars: presentation and management. Can J Surg 1986;29:419–20. [9] Lee J. Bezoars and foreign bodies of the stomach. Gastrointest Endosc Clin N Am 1996;6:605–19.
E. Aoun H. Abdul-Baki Z. Berro A.I. Sharara ∗ Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon ∗ Corresponding
Fig. 2. Endoscopic picture of the gastric bezoar prior to removal.
author at: Division of Gastroenterology, Box 16-B, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El-Solh 110 72020, Beirut, Lebanon. Tel.: +961 1 350000x5351; fax: +961 1 366098. E-mail address: [email protected] (A.I. Sharara) doi: 10.1016/j.dld.2005.10.006
Symptoms resulting from gastric bezoars are highly variable and often non-specific. They mainly depend on size, location and degree of disturbance of gastric physiology and may include nausea, vomiting and weight loss [1,2]. Reports of bezoars resulting in obstruction (mostly phytobezoars) have been published since the late 18th century [3,4]. A minority of bezoars migrates and results in either oesophageal (reverse migration) or intestinal obstruction [5–9]. Our patient presented with intermittent postprandial vomiting with weight loss as primary manifestations. With the absence of an obvious alternative aetiology for her intermittent symptoms, we conclude that the bezoar resulted in a ball-valve effect intermittently obstructing the gastric outlet. To our knowledge, this is the first case of gastric bezoar resulting in such an effect. Conflict of interest statement None declared.
References [1] Allred-Crouch AL, Young EA. Bezoars—when the ‘knot in the stomach’ is real. Postgrad Med 1985;78:261–5. [2] Zarling EJ, Thompson LE. Nonpersimmon gastric phytobezoar. A benign recurrent condition. Arch Intern Med 1984;144: 959–61. [3] Madura MJ, Naughton BJ, Craig RM. Duodenal bezoar: a case report and review of the literature. Gastrointest Endosc 1982;28: 26–8. [4] Andrus CH, Ponsky JL. Bezoars: classification, pathophysiology, and treatment. Am J Gastroenterol 1988;83:476–8. [5] Rodriguez Cuartero A, Gonzalez Martinez F. Gastric perforation from a bezoar. Rev Esp Enferm Dig 1994;86:558–9. [6] Kilam SK, Cohen MM. Small-bowel obstruction after conservative treatment of gastric bezoar. Can J Surg 1986;29:369–71.
Wireless capsule enteroscopy (Given® ) in a case of Cowden syndrome Sir, Cowden Syndrome (CS) or ‘multiple hamartoma syndrome’, first described by Lloyd and Dennis [1] in 1963, is a rare autosomal dominant condition with variable expression that results from a mutation in the tumour suppressor gene phosphatase and tensin homologue (mutated in multiple advanced cancers 1) ‘PTEN’ on chromosome arm 10q. The syndrome causes hamartomatous neoplasms of the skin and mucosa, gastrointestinal tract, bones, central nervous system (CNS), eyes and genitourinary tract. It is also associated with increased susceptibility to thyroid and breast cancer and endometrial carcinomas in females, as well as to non-cancerous conditions of the breast and thyroid [2]. In our report, CS was diagnosed in a 36-year-old female primarily on the basis of multiple papules on the face and neck diagnosed as trichilemmona, hyperkeratotic areas on the palms of both hands and multiple intraoral papillomatosis lesions. At 45 years of age, the patient underwent total thyroidectomy for multinodular goitre. Fibroadenomas of the breast were also detected. At 49 years of age, bilateral adnexectomy was performed due to a cyst on the ovary and, at that time, positivity for a novel mutation of the PTEN gene was confirmed [3]. The patient (53 years) was kept under observation and submitted to oesophagogastroduodenoscopy (EGD) and colonoscopy. EGD revealed oesophageal acanthosis, oesophagogastric junction polyp and other fundus polyps
Correspondence / Digestive and Liver Disease 38 (2006) 149–152
152
CS, however, is associated with dermatological lesions, the gastrointestinal tract being involved in only 40% of the patients. No definite increase in the risk of colorectal carcinoma has been documented, due to the rare occurrence of this syndrome [5]. Conflict of interest statement None declared.
References
Fig. 1.
defined as hyperplastic. Colonoscopy showed inflammatory polyps and an adenoma with low-grade dysplasia (LGD). The patient’s small bowel was explored by wireless capsule endoscopy (Given® ). Various minimal polyps (four) in different tracts of the jejunum (Fig. 1) and vascular ectasia in the ileum were found. Enteroscopy was planned in order to perform histological examinations in the attempt to define the nature of the polyps but the patient refused to undergo this procedure. The incidence of CS, before gene identification, was estimated to be one in a million in a Dutch population based on a clinical epidemiological study. However, after gene identification, this figure was reported to be 1 in 200,000, which is almost certainly an underestimation [3]. Skin lesions in the head and neck area are the disorders most frequently reported, with dermal manifestations being found in 99% of the cases. Other hamartomas frequently occurring in CS include breast fibroadenomas in 70% of the affected females. The second area most commonly involved is the CNS. CS, associated with cerebellar gangliocytomatosis, is referred to as the Lhermitte-Duclos syndrome. Thyroid adenomas and multinodular goitre have been shown in 40–60% of all CS patients, and gastrointestinal polyps are present in 35–40% of the affected individuals [4]. However, bearing in mind the similarities between CS and other intestinal polyposes, we decided to study the small bowel using a highly specific investigation.
[1] Lloyd KM, Dennis II M. Cowden’s disease: a possible new symptom complex with multiple system involvement. Ann Intern Med 1963;58:136–42. [2] Fachenthal JD, Marsh DJ, Richardson AL, Cumming SA, Eng C, Robinson BG, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutation. J Med Genet 2001;38:159–64. [3] Scala S, Bruni P, Lo Muzio L, Mignogna M, Biglietto G, Fusco A. Novel mutation of the PTEN gene in an Italian Cowden’s disease kindred. Int J Oncol 1998;13:665–8. [4] Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RT, Ahmed SF, et al. PTEN mutation spectrum and genotype–phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Gen 1999;8:1461–72. [5] Fistarol SK, Anliker MD, Itin PH. Cowden disease or multiple hamartoma syndrome—cutaneous clue to internal malignancy. Eur J Dermatolol 2002;12:411–21.
G. Riegler ∗ I. Esposito P. Esposito M. Bassi A. Ursillo Gastrointestinal Unit, University of Naples, Piazza Miraglia 2, Naples, Italy R. Bennato A. Balzano Gastrointestinal Unit, Cardarelli Hospital, Naples, Italy
∗ Corresponding author. Tel.: +39 081 566 5116; fax: +39 081 566 5112. E-mail address: [email protected] (G. Riegler)
doi: 10.1016/j.dld.2005.09.019