SRU RESIDENT TEACHING CASE
Jejunal Intussusception in Peutz-Jeghers Syndrome Mimicking Acute Appendicitis Oluwaseun Babalola, MD, and Adejimi Adeniji, MD CLINICAL HISTORY A 12-year-old girl with no significant medical history presented with acute-onset periumbilical pain and vomiting. Her white blood cell count at presentation was 22,000/mm3, and an abdominal ultrasound was obtained to rule out appendicitis.
IMAGING FINDINGS Ultrasound The ultrasound showed an edematous loop of bowel in the midabdomen with moderate amount of surrounding fluid and a ‘‘pseudokidney’’ appearance, suggestive of intussusception. Computed tomography scan of the abdomen and pelvis was advised to evaluate for a lead point in view of the patient’s age.
Computed Tomography Computed tomography scan showed a dilated loop of small bowel measuring up to 6.3 cm in the midabdomen with telescoping of small bowel within it. Mesenteric fat was noted within the dilated bowel loop. A definite lead point was not identified. The appendix was not well visualized, but there were no secondary signs of appendicitis.
SURGICAL/HISTOPATHOLOGY FINDINGS Necrotic intussusception, which explains the patient’s elevated white blood cell count, was found at laparotomy. A jejunal polyp was identified as the leading point. Two other polyps were identified within the intussusception. Pathology of the polyps returned as hamartomas. The physical examination was revisited after the pathology report.
PHYSICAL EXAMINATION Melanotic lip lesions involving the upper and lower lips. Hyperpigmented lesions were also present in the skin overlying the distal phalanx of several fingers. The patient’s mother had similar hyperpigmented lesions. A retrospective diagnosis of Peutz-Jeghers syndrome (PJS) was made.
DISCUSSION Peutz-Jeghers syndrome is an autosomal dominant disorder with an incidence from 1 in 8300 to 1 in 120,000 births.1,2 Mutations in the STK11 gene have been identified as a cause of Received for publication October 14, 2014; accepted February 4, 2015. John H. Stroger Jr Hospital of Cook County, Chicago, IL. The authors declare no conflict of interest. Corresponding author: Oluwaseun Babalola, MD, Department of Radiology, John H. Stroger Jr Hospital of Cook County, 1901 W Harrison St, Rm 2533, Chicago, IL 60612 (e-mail: [email protected]). Copyright * 2015 Wolters Kluwer Health, Inc. All rights reserved.
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PJS.3 Peutz-Jeghers syndrome is a hereditary polyposis syndrome characterized by mucocutaneous hyperpigmentation and hamartomatous polyps. Mucocutaneous pigmentation occurs commonly around the lips, buccal mucosa, eyes, and fingers. Hamartomatous polyps can occur anywhere in the gastrointestinal tract but are most common in the jejunum followed by the ileum and duodenum. Hamartomatous polyps usually present as surgical emergencies in the first decade of life, usually secondary to intussusception, bowel obstruction, and bleeding.4 Intussusception is the telescoping of a segment of bowel and surrounding mesentery into another loop of bowel. It usually presents with abdominal pain and symptoms of intestinal obstruction. Because the mesentery and the vessels it contains are incorporated into the intussusception, venous return is initially impaired leading to edema. Ultimately, arterial supply to the bowel is affected followed by bowel ischemia and necrosis. Ultrasound is very valuable in the evaluation of intussusception. The transverse gray-scale sonographic appearance of intussusception is usually a mass with multiple concentric rings; this is referred to as the ‘‘target sign.’’ On the longitudinal images, the intussusception bears a semblance to the kidney, and this is referred to as the ‘‘pseudokidney sign.’’5 Figure 1 is a longitudinal gray-scale ultrasound image showing the ‘‘pseudokidney’’ sign. Figure 2 is a transverse gray-scale ultrasound image showing concentric rings. Computed tomography scan may show a ‘‘bowel-in-bowel’’ appearance as well as invaginating mesenteric fat. Figure 3 is an axial computed tomography image demonstrating the ‘‘bowel-inbowel’’ appearance. The arrow points to invaginated mesenteric fat. Most children with acute appendicitis experience generalized or periumbilical abdominal pain, which subsequently migrates to the right lower quadrant; most patients with acute appendicitis will also have an elevated white blood cell count.6 Our patient’s clinical presentation was therefore suggestive of acute appendicitis to the clinicians. Ileocolic intussusception has been previously described in the literature as a differential diagnosis for appendicitis, but to our knowledge, there is no report of jejunal intussusception mimicking acute appendicitis. The management of intussusception can be nonsurgical or surgical. Nonsurgical reduction is an important primary treatment for pediatric intussusception and has a high success rate and low incidence of complication. A reduction technique usually has 2 components; the first is the guidance method, such as ultrasound or fluoroscopy. The other is the contrast medium, which can be air, barium, or saline.7 Nonsurgical reduction is usually reserved for uncomplicated cases, whereas surgery is indicated if ischemia is present. Ultrasound Quarterly
& Volume 31, Number 3, September 2015
Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
Ultrasound Quarterly
& Volume 31, Number 3, September 2015
Jejunal Intussusception in Peutz-Jeghers Syndrome Mimicking Acute Appendicitis
FIGURE 1. Longitudinal gray-scale ultrasound showing a reniform mass comprised of a hyperechoic center and hypoechoic peripheryVthe ‘‘pseudokidney’’ sign.
People with PJS are at increased risk of intestinal and extraintestinal malignancy. They are also likely to have recurrent episodes of intussusception. The following initial evaluations, among others, are recommended for an individual diagnosed with PJS: upper gastrointestinal endoscopy plus small bowel examination (magnetic resonance enterography or wireless video capsule endoscopy) beginning at age 8 years or when symptoms occur and colonoscopy beginning age 8 years. There is supporting evidence that routine endoscopy with polypectomy decreases the frequency of bowel loss from surgical management of intussusception.8 The luminal polyp-related complications usually occur in childhood, whereas cancer in PJS is typically seen in adulthood. Routine surveillance endoscopy with polypectomy is recommended to reduce the frequency of emergency surgeries and bowel loss from intussusception in children and early detection of cancer in adults. Colorectal cancer is the most common cancer in people with PJS.9 Video capsule endoscopy is superior to small bowel series for visualization of the small bowel polyps and is
FIGURE 2. Transverse gray-scale ultrasound showing concentric hypoechoic and hyperechoic ringsVthe ‘‘target’’ sign.
FIGURE 3. Axial contrast-enhanced CT of the abdomen showing ‘‘bowel-in-bowel’’ appearance with invaginated mesentery (arrow).
recommended as a first-line surveillance procedure. In children the capsule can be deployed in the duodenum after upper gastrointestinal endoscopy.10 Magnetic resonance enterography can also be used for small bowel surveillance.11 It is important to be able to recognize the imaging characteristics of intussusception. A potential lead point must be sought especially in older children as they are more likely to have a lead point. Identification of a polypoid lead point should heighten the suspicion for PJS, and the other characteristic findings in this syndrome must be actively sought because patients with PJS are at a higher risk for development of gastrointestinal and extraintestinal cancers. REFERENCES 1. McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000;95:596Y603. 2. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. 1998;128:896Y899. 3. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184Y187. 4. Tomlinson IPM, Houlston RS. Peutz-Jeghers syndrome. J Med Genet. 1997;34:1007Y1011. 5. Kirks DR. Practical Pediatric Imaging: Diagnostic Radiology of Infants and Children. 3rd ed. Philadelphia, PA: Lippincott-Raven. 1998. 6. Michael D. Klein Clinical approach to a child with abdominal pain who might have appendicitis. Pediatr Radiol. 2007;37:11Y14. 7. Yoon CH, Kim HJ, Goo HW. Intussusception in children: US-guided pneumatic reductionVinitial experience. Radiology. 2001;218:1. 8. Pennazio M, Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointest Endosc. 2000;51:304Y308. 9. van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105:1258Y1264. 10. Parsi MA, Burke CA. Utility of capsule endoscopy in Peutz-Jeghers syndrome. Gastrointest Endosc Clin N Am. 2004;14:159Y167. 11. Caspari R, von Falkenhausen M, Krautmacher C, et al. Comparison of capsule endoscopy and magnetic resonance imaging for the detection of polyps of the small intestine in patients with familial adenomatous polyposis or with Peutz-Jeghers’ syndrome. Endoscopy. 2004;36:1054Y1059.
* 2015 Wolters Kluwer Health, Inc. All rights reserved.
Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
www.ultrasound-quarterly.com
209
Jejunal Intussusception in Peutz-Jeghers Syndrome Mimicking Acute Appendicitis Oluwaseun Babalola, MD, and Adejimi Adeniji, MD CLINICAL HISTORY A 12-year-old girl with no significant medical history presented with acute-onset periumbilical pain and vomiting. Her white blood cell count at presentation was 22,000/mm3, and an abdominal ultrasound was obtained to rule out appendicitis.
IMAGING FINDINGS Ultrasound The ultrasound showed an edematous loop of bowel in the midabdomen with moderate amount of surrounding fluid and a ‘‘pseudokidney’’ appearance, suggestive of intussusception. Computed tomography scan of the abdomen and pelvis was advised to evaluate for a lead point in view of the patient’s age.
Computed Tomography Computed tomography scan showed a dilated loop of small bowel measuring up to 6.3 cm in the midabdomen with telescoping of small bowel within it. Mesenteric fat was noted within the dilated bowel loop. A definite lead point was not identified. The appendix was not well visualized, but there were no secondary signs of appendicitis.
SURGICAL/HISTOPATHOLOGY FINDINGS Necrotic intussusception, which explains the patient’s elevated white blood cell count, was found at laparotomy. A jejunal polyp was identified as the leading point. Two other polyps were identified within the intussusception. Pathology of the polyps returned as hamartomas. The physical examination was revisited after the pathology report.
PHYSICAL EXAMINATION Melanotic lip lesions involving the upper and lower lips. Hyperpigmented lesions were also present in the skin overlying the distal phalanx of several fingers. The patient’s mother had similar hyperpigmented lesions. A retrospective diagnosis of Peutz-Jeghers syndrome (PJS) was made.
DISCUSSION Peutz-Jeghers syndrome is an autosomal dominant disorder with an incidence from 1 in 8300 to 1 in 120,000 births.1,2 Mutations in the STK11 gene have been identified as a cause of Received for publication October 14, 2014; accepted February 4, 2015. John H. Stroger Jr Hospital of Cook County, Chicago, IL. The authors declare no conflict of interest. Corresponding author: Oluwaseun Babalola, MD, Department of Radiology, John H. Stroger Jr Hospital of Cook County, 1901 W Harrison St, Rm 2533, Chicago, IL 60612 (e-mail: [email protected]). Copyright * 2015 Wolters Kluwer Health, Inc. All rights reserved.
208
www.ultrasound-quarterly.com
PJS.3 Peutz-Jeghers syndrome is a hereditary polyposis syndrome characterized by mucocutaneous hyperpigmentation and hamartomatous polyps. Mucocutaneous pigmentation occurs commonly around the lips, buccal mucosa, eyes, and fingers. Hamartomatous polyps can occur anywhere in the gastrointestinal tract but are most common in the jejunum followed by the ileum and duodenum. Hamartomatous polyps usually present as surgical emergencies in the first decade of life, usually secondary to intussusception, bowel obstruction, and bleeding.4 Intussusception is the telescoping of a segment of bowel and surrounding mesentery into another loop of bowel. It usually presents with abdominal pain and symptoms of intestinal obstruction. Because the mesentery and the vessels it contains are incorporated into the intussusception, venous return is initially impaired leading to edema. Ultimately, arterial supply to the bowel is affected followed by bowel ischemia and necrosis. Ultrasound is very valuable in the evaluation of intussusception. The transverse gray-scale sonographic appearance of intussusception is usually a mass with multiple concentric rings; this is referred to as the ‘‘target sign.’’ On the longitudinal images, the intussusception bears a semblance to the kidney, and this is referred to as the ‘‘pseudokidney sign.’’5 Figure 1 is a longitudinal gray-scale ultrasound image showing the ‘‘pseudokidney’’ sign. Figure 2 is a transverse gray-scale ultrasound image showing concentric rings. Computed tomography scan may show a ‘‘bowel-in-bowel’’ appearance as well as invaginating mesenteric fat. Figure 3 is an axial computed tomography image demonstrating the ‘‘bowel-inbowel’’ appearance. The arrow points to invaginated mesenteric fat. Most children with acute appendicitis experience generalized or periumbilical abdominal pain, which subsequently migrates to the right lower quadrant; most patients with acute appendicitis will also have an elevated white blood cell count.6 Our patient’s clinical presentation was therefore suggestive of acute appendicitis to the clinicians. Ileocolic intussusception has been previously described in the literature as a differential diagnosis for appendicitis, but to our knowledge, there is no report of jejunal intussusception mimicking acute appendicitis. The management of intussusception can be nonsurgical or surgical. Nonsurgical reduction is an important primary treatment for pediatric intussusception and has a high success rate and low incidence of complication. A reduction technique usually has 2 components; the first is the guidance method, such as ultrasound or fluoroscopy. The other is the contrast medium, which can be air, barium, or saline.7 Nonsurgical reduction is usually reserved for uncomplicated cases, whereas surgery is indicated if ischemia is present. Ultrasound Quarterly
& Volume 31, Number 3, September 2015
Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
Ultrasound Quarterly
& Volume 31, Number 3, September 2015
Jejunal Intussusception in Peutz-Jeghers Syndrome Mimicking Acute Appendicitis
FIGURE 1. Longitudinal gray-scale ultrasound showing a reniform mass comprised of a hyperechoic center and hypoechoic peripheryVthe ‘‘pseudokidney’’ sign.
People with PJS are at increased risk of intestinal and extraintestinal malignancy. They are also likely to have recurrent episodes of intussusception. The following initial evaluations, among others, are recommended for an individual diagnosed with PJS: upper gastrointestinal endoscopy plus small bowel examination (magnetic resonance enterography or wireless video capsule endoscopy) beginning at age 8 years or when symptoms occur and colonoscopy beginning age 8 years. There is supporting evidence that routine endoscopy with polypectomy decreases the frequency of bowel loss from surgical management of intussusception.8 The luminal polyp-related complications usually occur in childhood, whereas cancer in PJS is typically seen in adulthood. Routine surveillance endoscopy with polypectomy is recommended to reduce the frequency of emergency surgeries and bowel loss from intussusception in children and early detection of cancer in adults. Colorectal cancer is the most common cancer in people with PJS.9 Video capsule endoscopy is superior to small bowel series for visualization of the small bowel polyps and is
FIGURE 2. Transverse gray-scale ultrasound showing concentric hypoechoic and hyperechoic ringsVthe ‘‘target’’ sign.
FIGURE 3. Axial contrast-enhanced CT of the abdomen showing ‘‘bowel-in-bowel’’ appearance with invaginated mesentery (arrow).
recommended as a first-line surveillance procedure. In children the capsule can be deployed in the duodenum after upper gastrointestinal endoscopy.10 Magnetic resonance enterography can also be used for small bowel surveillance.11 It is important to be able to recognize the imaging characteristics of intussusception. A potential lead point must be sought especially in older children as they are more likely to have a lead point. Identification of a polypoid lead point should heighten the suspicion for PJS, and the other characteristic findings in this syndrome must be actively sought because patients with PJS are at a higher risk for development of gastrointestinal and extraintestinal cancers. REFERENCES 1. McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000;95:596Y603. 2. Boardman LA, Thibodeau SN, Schaid DJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. 1998;128:896Y899. 3. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature. 1998;391:184Y187. 4. Tomlinson IPM, Houlston RS. Peutz-Jeghers syndrome. J Med Genet. 1997;34:1007Y1011. 5. Kirks DR. Practical Pediatric Imaging: Diagnostic Radiology of Infants and Children. 3rd ed. Philadelphia, PA: Lippincott-Raven. 1998. 6. Michael D. Klein Clinical approach to a child with abdominal pain who might have appendicitis. Pediatr Radiol. 2007;37:11Y14. 7. Yoon CH, Kim HJ, Goo HW. Intussusception in children: US-guided pneumatic reductionVinitial experience. Radiology. 2001;218:1. 8. Pennazio M, Rossini FP. Small bowel polyps in Peutz-Jeghers syndrome: management by combined push enteroscopy and intraoperative enteroscopy. Gastrointest Endosc. 2000;51:304Y308. 9. van Lier MG, Wagner A, Mathus-Vliegen EM, et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol. 2010;105:1258Y1264. 10. Parsi MA, Burke CA. Utility of capsule endoscopy in Peutz-Jeghers syndrome. Gastrointest Endosc Clin N Am. 2004;14:159Y167. 11. Caspari R, von Falkenhausen M, Krautmacher C, et al. Comparison of capsule endoscopy and magnetic resonance imaging for the detection of polyps of the small intestine in patients with familial adenomatous polyposis or with Peutz-Jeghers’ syndrome. Endoscopy. 2004;36:1054Y1059.
* 2015 Wolters Kluwer Health, Inc. All rights reserved.
Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
www.ultrasound-quarterly.com
209
