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Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome
Brief Reports
8. Sato Y, Shiroma Y, Kiyuna S, et al. Reduced efficacy of chemotherapy might accumulate concurrent HTLV-1 infection among strongyloidiasis patients in Okinawa, Japan. Trans R Soc Trop Med Hyg 1994;88:59. Division of Hepatology and Gastroenterology (P.H., R.P., F.G.), State University of New York Downstate Medical Center, Brooklyn; Division of Gastroenterology (K.H.), Long Island College Hospital, Brooklyn, New York, USA.
Reprint requests: Pierre Hindy, MD, SUNY Downstate Medical Center, Division of Hepatology and Gastroenterology, 450 Clarkson Ave, Brooklyn, NY 11203. Copyright © 2011 by the American Society for Gastrointestinal Endoscopy 0016-5107/$36.00 doi:10.1016/j.gie.2010.11.035
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome Michael J. Nowicki, MD, Phyllis R. Bishop, MD Jackson, Mississippi, USA
We report a child with juvenile polyposis syndrome caused by a defect in the SMAD4 gene who had rapid recurrence of colonic polyps after initiation of growth hormone (GH) for short stature. There was a preponderance of polyps in the right side of the colon, including an appendiceal polyp. The appendiceal polyp was successfully removed endoscopically. We briefly review appendiceal polyps and the role of growth hormone in normal and abnormal colonic growth.
CASE REPORT A 10-year-old white boy was seen with a 7-month history of intermittent abdominal pain and rectal bleeding. Pain was periumbilical and poorly characterized, occurring 3 to 4 times per week. Rectal bleeding occurred on 4 occasions after passing hard bowel movements. The patient’s history showed short stature and hypothyroidism; he was receiving thyroxine replacement. His family history was positive for polyps on the paternal side. Examination showed a weight of 49.3 kg (lower than the 3rd percentile), height of 124.1 cm (lower than the 3rd percentile), and a body mass index of 32.1 kg/m2 (greater than the 97th percentile). There were no pigmented oral lesions. Abdominal examination revealed no masses, hepatosplenomegaly, or tenderness. Rectal examination revealed no fissures, tags, or fistulae; stool was negative for fecal occult blood. Laboratory evaluation included complete blood count, erythrocyte sedimentation rate, liver panel, and lipase; all results were normal. A presumptive diagnosis of constipation and resolved anal fissure was made, and treatment was initiated with polyethylene glycol. The child experienced improved bowel frequency and consistency, but intermittent rectal bleeding continued. Upper endoscopy and colonoscopy were performed. Findings of the upper endoscopy done to assess for causes of abdominal pain were normal. Colonoscopy, performed to determine the cause of rectal bleeding, showed revealed 25 polyps concentrated in the right side of the www.giejournal.org
Figure 1. Pictorial depiction of polyp location seen at colonoscopy. The small circles represent polyps smaller than 5 mm in greatest diameter; large circles represent polyps larger than 5 mm in greatest diameter. Black circles represent polyps removed during the initial colonoscopy; gray circles represent polyps removed at the follow-up colonoscopy.
colon (Fig. 1). The majority of the polyps were small (⬍5 mm) sessile polyps that were removed by either hot or cold biopsy. Six larger pedunculated polyps were removed by the snare technique. No appendiceal polyps Volume 74, No. 2 : 2011 GASTROINTESTINAL ENDOSCOPY 441
Brief Reports
Figure 2. Appendiceal polyp. At the initial colonoscopy, 2 pedunculated polyps located in the cecum were removed; no polyp was seen in the appendiceal orifice (A). At the follow-up colonoscopy, a small polyp was seen adjacent to the appendiceal orifice (B); suctioning of fluid revealed an appendiceal polyp (C). Deflating the cecum allowed better visualization of the polyp (D).
were seen (Fig 2A). All polyps were juvenile polyps without evidence of dysplasia. Genetic testing for juvenile polyposis syndrome detected a defect in the SMAD4 gene. Six months later, rectal bleeding recurred. The interim history revealed that the child had received a diagnosis of panhypopituitarism; GH injections were started for short stature. Repeat colonoscopy detected 12 polyps, again concentrated in the right side of the colon. Most were small sessile polyps removed by either cold or hot biopsy. Two pedunculated polyps were seen, 1 within the appendiceal lumen (Fig. 2B, C) seen better by deflating the cecum (Fig 2D). There was concern that the polyp could lead to appendiceal lumen obstruction and result in appendicitis. The polyp was gently suctioned, revealing that it was pedunculated. The polyp was removed without difficulty. The postprocedure course was uneventful.
DISCUSSION Appendiceal polyps are uncommon, seen in 0.8% of appendectomy specimens.1 Most appendiceal polyps are ade442 GASTROINTESTINAL ENDOSCOPY Volume 74, No. 2 : 2011
nomas1-4; however, polyps of all types have been reported including hyperplastic, hamartomatous, neurofibromas, granulation, and juvenile polyps.1,2 Presentation includes appendicitis, abdominal pain, intussusception, and rectal bleeding as an incidental finding during surgical procedure or radiological studies.1,2,4 Presentation as acute appendicitis suggests that polyps could lead to luminal obstruction.1 Because of a concern for the risk of obstruction, we elected to remove the appendiceal polyp. The deflated lumen technique3 allowed better visualization and easier application of the polypectomy snare. Endoscopic removal of appendiceal polyps has only been reported twice previously, with no reported postprocedure problems.2,4 We propose that the rapid recurrence of polyps in this child resulted from the administration of the GH. GH receptor is found throughout the digestive tract in the crypt mucosa.5 Administration of GH to GH-deficient animals has been shown to increase colonic weight.5 Further support for the proliferative effect of GH comes from individuals with acromegaly.6-8 The prevalence of adenomatous polyps is higher in acromegalics (22%-38%) than in controls (7%www.giejournal.org
Brief Reports
14%).6-8 Similarly, the prevalence of hyperplastic polyps is higher in acromegalics (24%-26%) than in controls.7,8 It is proposed that GH stimulates induction of a protooncogene (c-myc), inducing dysplastic changes in the colonic mucosa.9 Alternatively, the rapid recurrence of polyps could be explained by missing polyps at the original colonoscopy. We believe that this is unlikely because excellent preparation before both colonoscopies was reported. Still, polyps may be hidden behind folds and missed by the endoscopist. However, as shown in Figure 2, cecal polyps present on the second colonoscopy were clearly not present on the initial procedure, supporting the concept of rapid polyp growth. After discussion with the family and the endocrinologist, we elected to continue GH therapy. Improvement in height with GH therapy is time limited and must be completed before closure of the growth plates. We wanted to offer the child the best chances of reaching his genetically determined potential height. Despite the rapid growth of colonic polyps seen in this child, none had associated dysplasia. Yet, the risk of premalignant changes remains high, prompting us to schedule surveillance colonoscopy at 6-month intervals. We elected to use 6 months because there was previously significant polyp growth in this time period. In conclusion, polyps of the appendix are uncommon. Although reported experience is limited, endoscopic removal of appendiceal polyps can be safely performed, provided that the polyp is pedunculated, allowing for easy snaring. DISCLOSURE The authors disclosed no financial relationships relevant to this publication.
Abbreviation: GH, growth hormone.
REFERENCES 1. Rubio CA. Serrated adenomas of the appendix. J Clin Pathol 2004;57: 946-9. 2. Chen YY, Soon MS, Yen HH. Gastrointestinal: adenomatous polyp of the appendix. J Gastroenterol Hepatol 2006;21:617. 3. Ruffolo TA, Daly C. Identifying obscure appendiceal polyps: the ”deflated lumen” technique. Gastrointest Endosc 2006;63:704-5. 4. Thomas M, Basu N, Oke T, et al. Appendiceal polypectomy at colonoscopy. Dig Surg 2009;26:121-2. 5. Tei TM, Kissmeyer-Nielsen P, Christensen H, et al. Growth hormone treatment increases transmural colonic growth in GH-deficient dwarf rats. Growth Horm IGF Res 2000;10:85-92. 6. Vasen HF, van Erpecum KJ, Roelfsema F, et al. Increased prevalence of colonic adenomas in patients with acromegaly. Eur J Endocrinol 1994; 131:235-7. 7. Delhougne Delhougne B, Deneux C, Abs R, et al. The prevalence of colonic polyps in acromegaly: a colonoscopic and pathological study in 103 patients. J Clin Endocrinol Metab 1995;80:3223-6. 8. Colao A, Pivonello R, Auriemma RS, et al. The association of fasting insulin concentrations and colonic neoplasms in acromegaly: a colonoscopybased study in 210 patients. J Clin Endocrinol Metab 2007;92:3854-60. 9. Shulman DI. Gastrointestinal effects of growth hormone. Endocrine 2000; 12:147-52.
Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, Mississippi, USA. Reprint requests: Michael J. Nowicki, MD, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216. Copyright © 2011 by the American Society for Gastrointestinal Endoscopy 0016-5107/$36.00 doi:10.1016/j.gie.2011.01.027
Malakoplakia: an unusual cause of lower GI bleeding in a child Anuradha Sekaran, MD, DNB, Nachiket Dubale, DNB, Sandeep Lakhtakia, MD, DM, Bhavani Raju, MD, Mohan Ramchandani, MD, DM, Santosh Darisetty, DA, D. Bhaskara Reddy, MD, DSc, FAMS, D. Nageshwar Reddy, MD, DM, DSc, FAMS, FRCP Hyderabad, India
Malakoplakia is a rare chronic inflammatory disorder that generally involves the urinary tract.1 GI malakoplakia has also been reported, including rare cases of malakoplakia in children.2 We report a case of malakoplakia involving the colon and duodenum in a child who presented with recurrent episodes of lower GI bleeding.
CASE REPORT A 9-year-old boy presented with recurrent episodes of painless rectal bleeding for 2 years requiring multiple www.giejournal.org
blood transfusions. He had associated intermittent lowgrade fever, anorexia, and significant weight loss. Clinical examination revealed a poorly built boy with pallor. His hemoglobin level was 9 g/dL (hematocrit 26%), and a peripheral blood smear showed microcytic hypochromic red blood cells. His serum albumin level was 2.8 g/dL, whereas the rest of the biochemical test results were normal. Stool examination did not reveal parasites or ova. Serology was negative for HIV. Multiple small to mediumsized discrete, soft, friable, sessile polypoidal lesions extending from the rectum to the cecum with normal interVolume 74, No. 2 : 2011 GASTROINTESTINAL ENDOSCOPY 443
8. Sato Y, Shiroma Y, Kiyuna S, et al. Reduced efficacy of chemotherapy might accumulate concurrent HTLV-1 infection among strongyloidiasis patients in Okinawa, Japan. Trans R Soc Trop Med Hyg 1994;88:59. Division of Hepatology and Gastroenterology (P.H., R.P., F.G.), State University of New York Downstate Medical Center, Brooklyn; Division of Gastroenterology (K.H.), Long Island College Hospital, Brooklyn, New York, USA.
Reprint requests: Pierre Hindy, MD, SUNY Downstate Medical Center, Division of Hepatology and Gastroenterology, 450 Clarkson Ave, Brooklyn, NY 11203. Copyright © 2011 by the American Society for Gastrointestinal Endoscopy 0016-5107/$36.00 doi:10.1016/j.gie.2010.11.035
Successful endoscopic removal of an appendiceal polyp in a child with juvenile polyposis syndrome Michael J. Nowicki, MD, Phyllis R. Bishop, MD Jackson, Mississippi, USA
We report a child with juvenile polyposis syndrome caused by a defect in the SMAD4 gene who had rapid recurrence of colonic polyps after initiation of growth hormone (GH) for short stature. There was a preponderance of polyps in the right side of the colon, including an appendiceal polyp. The appendiceal polyp was successfully removed endoscopically. We briefly review appendiceal polyps and the role of growth hormone in normal and abnormal colonic growth.
CASE REPORT A 10-year-old white boy was seen with a 7-month history of intermittent abdominal pain and rectal bleeding. Pain was periumbilical and poorly characterized, occurring 3 to 4 times per week. Rectal bleeding occurred on 4 occasions after passing hard bowel movements. The patient’s history showed short stature and hypothyroidism; he was receiving thyroxine replacement. His family history was positive for polyps on the paternal side. Examination showed a weight of 49.3 kg (lower than the 3rd percentile), height of 124.1 cm (lower than the 3rd percentile), and a body mass index of 32.1 kg/m2 (greater than the 97th percentile). There were no pigmented oral lesions. Abdominal examination revealed no masses, hepatosplenomegaly, or tenderness. Rectal examination revealed no fissures, tags, or fistulae; stool was negative for fecal occult blood. Laboratory evaluation included complete blood count, erythrocyte sedimentation rate, liver panel, and lipase; all results were normal. A presumptive diagnosis of constipation and resolved anal fissure was made, and treatment was initiated with polyethylene glycol. The child experienced improved bowel frequency and consistency, but intermittent rectal bleeding continued. Upper endoscopy and colonoscopy were performed. Findings of the upper endoscopy done to assess for causes of abdominal pain were normal. Colonoscopy, performed to determine the cause of rectal bleeding, showed revealed 25 polyps concentrated in the right side of the www.giejournal.org
Figure 1. Pictorial depiction of polyp location seen at colonoscopy. The small circles represent polyps smaller than 5 mm in greatest diameter; large circles represent polyps larger than 5 mm in greatest diameter. Black circles represent polyps removed during the initial colonoscopy; gray circles represent polyps removed at the follow-up colonoscopy.
colon (Fig. 1). The majority of the polyps were small (⬍5 mm) sessile polyps that were removed by either hot or cold biopsy. Six larger pedunculated polyps were removed by the snare technique. No appendiceal polyps Volume 74, No. 2 : 2011 GASTROINTESTINAL ENDOSCOPY 441
Brief Reports
Figure 2. Appendiceal polyp. At the initial colonoscopy, 2 pedunculated polyps located in the cecum were removed; no polyp was seen in the appendiceal orifice (A). At the follow-up colonoscopy, a small polyp was seen adjacent to the appendiceal orifice (B); suctioning of fluid revealed an appendiceal polyp (C). Deflating the cecum allowed better visualization of the polyp (D).
were seen (Fig 2A). All polyps were juvenile polyps without evidence of dysplasia. Genetic testing for juvenile polyposis syndrome detected a defect in the SMAD4 gene. Six months later, rectal bleeding recurred. The interim history revealed that the child had received a diagnosis of panhypopituitarism; GH injections were started for short stature. Repeat colonoscopy detected 12 polyps, again concentrated in the right side of the colon. Most were small sessile polyps removed by either cold or hot biopsy. Two pedunculated polyps were seen, 1 within the appendiceal lumen (Fig. 2B, C) seen better by deflating the cecum (Fig 2D). There was concern that the polyp could lead to appendiceal lumen obstruction and result in appendicitis. The polyp was gently suctioned, revealing that it was pedunculated. The polyp was removed without difficulty. The postprocedure course was uneventful.
DISCUSSION Appendiceal polyps are uncommon, seen in 0.8% of appendectomy specimens.1 Most appendiceal polyps are ade442 GASTROINTESTINAL ENDOSCOPY Volume 74, No. 2 : 2011
nomas1-4; however, polyps of all types have been reported including hyperplastic, hamartomatous, neurofibromas, granulation, and juvenile polyps.1,2 Presentation includes appendicitis, abdominal pain, intussusception, and rectal bleeding as an incidental finding during surgical procedure or radiological studies.1,2,4 Presentation as acute appendicitis suggests that polyps could lead to luminal obstruction.1 Because of a concern for the risk of obstruction, we elected to remove the appendiceal polyp. The deflated lumen technique3 allowed better visualization and easier application of the polypectomy snare. Endoscopic removal of appendiceal polyps has only been reported twice previously, with no reported postprocedure problems.2,4 We propose that the rapid recurrence of polyps in this child resulted from the administration of the GH. GH receptor is found throughout the digestive tract in the crypt mucosa.5 Administration of GH to GH-deficient animals has been shown to increase colonic weight.5 Further support for the proliferative effect of GH comes from individuals with acromegaly.6-8 The prevalence of adenomatous polyps is higher in acromegalics (22%-38%) than in controls (7%www.giejournal.org
Brief Reports
14%).6-8 Similarly, the prevalence of hyperplastic polyps is higher in acromegalics (24%-26%) than in controls.7,8 It is proposed that GH stimulates induction of a protooncogene (c-myc), inducing dysplastic changes in the colonic mucosa.9 Alternatively, the rapid recurrence of polyps could be explained by missing polyps at the original colonoscopy. We believe that this is unlikely because excellent preparation before both colonoscopies was reported. Still, polyps may be hidden behind folds and missed by the endoscopist. However, as shown in Figure 2, cecal polyps present on the second colonoscopy were clearly not present on the initial procedure, supporting the concept of rapid polyp growth. After discussion with the family and the endocrinologist, we elected to continue GH therapy. Improvement in height with GH therapy is time limited and must be completed before closure of the growth plates. We wanted to offer the child the best chances of reaching his genetically determined potential height. Despite the rapid growth of colonic polyps seen in this child, none had associated dysplasia. Yet, the risk of premalignant changes remains high, prompting us to schedule surveillance colonoscopy at 6-month intervals. We elected to use 6 months because there was previously significant polyp growth in this time period. In conclusion, polyps of the appendix are uncommon. Although reported experience is limited, endoscopic removal of appendiceal polyps can be safely performed, provided that the polyp is pedunculated, allowing for easy snaring. DISCLOSURE The authors disclosed no financial relationships relevant to this publication.
Abbreviation: GH, growth hormone.
REFERENCES 1. Rubio CA. Serrated adenomas of the appendix. J Clin Pathol 2004;57: 946-9. 2. Chen YY, Soon MS, Yen HH. Gastrointestinal: adenomatous polyp of the appendix. J Gastroenterol Hepatol 2006;21:617. 3. Ruffolo TA, Daly C. Identifying obscure appendiceal polyps: the ”deflated lumen” technique. Gastrointest Endosc 2006;63:704-5. 4. Thomas M, Basu N, Oke T, et al. Appendiceal polypectomy at colonoscopy. Dig Surg 2009;26:121-2. 5. Tei TM, Kissmeyer-Nielsen P, Christensen H, et al. Growth hormone treatment increases transmural colonic growth in GH-deficient dwarf rats. Growth Horm IGF Res 2000;10:85-92. 6. Vasen HF, van Erpecum KJ, Roelfsema F, et al. Increased prevalence of colonic adenomas in patients with acromegaly. Eur J Endocrinol 1994; 131:235-7. 7. Delhougne Delhougne B, Deneux C, Abs R, et al. The prevalence of colonic polyps in acromegaly: a colonoscopic and pathological study in 103 patients. J Clin Endocrinol Metab 1995;80:3223-6. 8. Colao A, Pivonello R, Auriemma RS, et al. The association of fasting insulin concentrations and colonic neoplasms in acromegaly: a colonoscopybased study in 210 patients. J Clin Endocrinol Metab 2007;92:3854-60. 9. Shulman DI. Gastrointestinal effects of growth hormone. Endocrine 2000; 12:147-52.
Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, Mississippi, USA. Reprint requests: Michael J. Nowicki, MD, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216. Copyright © 2011 by the American Society for Gastrointestinal Endoscopy 0016-5107/$36.00 doi:10.1016/j.gie.2011.01.027
Malakoplakia: an unusual cause of lower GI bleeding in a child Anuradha Sekaran, MD, DNB, Nachiket Dubale, DNB, Sandeep Lakhtakia, MD, DM, Bhavani Raju, MD, Mohan Ramchandani, MD, DM, Santosh Darisetty, DA, D. Bhaskara Reddy, MD, DSc, FAMS, D. Nageshwar Reddy, MD, DM, DSc, FAMS, FRCP Hyderabad, India
Malakoplakia is a rare chronic inflammatory disorder that generally involves the urinary tract.1 GI malakoplakia has also been reported, including rare cases of malakoplakia in children.2 We report a case of malakoplakia involving the colon and duodenum in a child who presented with recurrent episodes of lower GI bleeding.
CASE REPORT A 9-year-old boy presented with recurrent episodes of painless rectal bleeding for 2 years requiring multiple www.giejournal.org
blood transfusions. He had associated intermittent lowgrade fever, anorexia, and significant weight loss. Clinical examination revealed a poorly built boy with pallor. His hemoglobin level was 9 g/dL (hematocrit 26%), and a peripheral blood smear showed microcytic hypochromic red blood cells. His serum albumin level was 2.8 g/dL, whereas the rest of the biochemical test results were normal. Stool examination did not reveal parasites or ova. Serology was negative for HIV. Multiple small to mediumsized discrete, soft, friable, sessile polypoidal lesions extending from the rectum to the cecum with normal interVolume 74, No. 2 : 2011 GASTROINTESTINAL ENDOSCOPY 443