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Appendiceal Mass in an Adolescent With Cystic Fibrosis
Image of the Month Appendiceal Mass in an Adolescent With Cystic Fibrosis DAWN P. BRADLY, MARLENE GALLEGOS, and SHRIRAM JAKATE Department of Pathology, Rush University Medical Center, Chicago, Illinois
A
14-year-old male patient with a history of cystic fibrosis (CF) presented with a right lower quadrant mass (RLQ) that had been enlarging for the past 4 months. He claimed to have had several occasions with severe pain in this area for a similar elapsed time. He was afebrile with a normal white blood cell count, and physical exam showed a fluctuating mass that changed with manual manipulation. As a result, intussusception or distal intestinal obstruction syndrome (DIOS) was suspected. Several studies were performed, including a barium enema study that showed irregular wall thickening of the mid and inferior ascending colon, with the most severe thickening involving the cecum. There was no persistent mass at the head of the contrast column during filling to indicate the presence of intussusception, and there was not any obstruction of flow retrograde into the distal ileum. In addition, the appendix was not clearly visualized as a result of the lack of filling by contrast. However, a tubular, mural mass with a convex, rounded, superior margin was identified adjacent to the ileocecal valve. In addition, ultrasound showed an approximately 1-cm dilated tubular structure in the RLQ with echogenic material (Figure A). Further investigation was performed with colonoscopy, and the tubular mass, approximately the size of a finger, was confirmed to be located in the cecum (Figure B). Thick, tenacious concrete material filled the tubular lumen, and erythema and friability with mucosal irregularity in the cecal region behind the mass were noted. Surgical consultation was arranged at this time, and the patient underwent a laparoscopic appendectomy 4 days later. On gross pathologic examination, the appendectomy specimen was distended and firm with a sausage-shaped appearance without perforation and measured 9.5 cm in length by 1.0 cm in diameter (Supplementary Figure C). Cross sectioning revealed diffuse luminal widening along the length of the appendix, with compacted, hardened, brown-gray waxy material (Supplementary Figure D). Histologic sections confirmed diffuse distention of the appendix, with inspissated luminal mucin, compressed mucosa with stagnant intracryptic mucin, and mild, diffuse reactive appendicitis, consistent with CF (Figure E).
Inspissated luminal mucin resulting in an RLQ mass or intussusception has been previously described in patients with CF.1–3 The prevalence is not wellknown because of lack of recent studies. A retrospective study by Coughlin et al1 highlighted a subset of CF patients who are afebrile with a normal white blood cell count and present with a distended, sometimes palpable, appendix with little to no inflammation. These findings in addition to chronic intermittent abdominal pain and focal RLQ tenderness result in an unspecified syndrome in which patients experience relief of symptoms without complications after appendectomy.2 Appendectomy is essential for decreasing morbidity because this condition might eventually result in ileal or cecal obstruction.
Supplementary Data Note: to access the supplementary materials accompanying this article, visit the online version of Clinical Gastroenterology and Hepatology at www.cghjournal.org.
References 1. Coughlin SP, Gauderer MW, Stern RC, et al. The spectrum of appendiceal disease in cystic fibrosis. J Pediatr Surg 1990;25:835– 839. 2. Attand TM, Askin FB, Cuffari C. Appendiceal inversion as a lead point for ileocolic intussusception in a child with cystic fibrosis. J Pediatr Gastroenterol Nutr 2000;31:300 –302. 3. Meyers A, Dolan TF Jr. Mild cystic fibrosis presenting as an asymptomatic distended appendiceal mass: a case report. Clin Pediatr 1975;14:862– 863.
Conflicts of interest The authors disclose no conflicts. © 2009 by the AGA Institute 1542-3565/09/$36.00 doi:10.1016/j.cgh.2009.02.002 CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2009;7:xxiv
A
14-year-old male patient with a history of cystic fibrosis (CF) presented with a right lower quadrant mass (RLQ) that had been enlarging for the past 4 months. He claimed to have had several occasions with severe pain in this area for a similar elapsed time. He was afebrile with a normal white blood cell count, and physical exam showed a fluctuating mass that changed with manual manipulation. As a result, intussusception or distal intestinal obstruction syndrome (DIOS) was suspected. Several studies were performed, including a barium enema study that showed irregular wall thickening of the mid and inferior ascending colon, with the most severe thickening involving the cecum. There was no persistent mass at the head of the contrast column during filling to indicate the presence of intussusception, and there was not any obstruction of flow retrograde into the distal ileum. In addition, the appendix was not clearly visualized as a result of the lack of filling by contrast. However, a tubular, mural mass with a convex, rounded, superior margin was identified adjacent to the ileocecal valve. In addition, ultrasound showed an approximately 1-cm dilated tubular structure in the RLQ with echogenic material (Figure A). Further investigation was performed with colonoscopy, and the tubular mass, approximately the size of a finger, was confirmed to be located in the cecum (Figure B). Thick, tenacious concrete material filled the tubular lumen, and erythema and friability with mucosal irregularity in the cecal region behind the mass were noted. Surgical consultation was arranged at this time, and the patient underwent a laparoscopic appendectomy 4 days later. On gross pathologic examination, the appendectomy specimen was distended and firm with a sausage-shaped appearance without perforation and measured 9.5 cm in length by 1.0 cm in diameter (Supplementary Figure C). Cross sectioning revealed diffuse luminal widening along the length of the appendix, with compacted, hardened, brown-gray waxy material (Supplementary Figure D). Histologic sections confirmed diffuse distention of the appendix, with inspissated luminal mucin, compressed mucosa with stagnant intracryptic mucin, and mild, diffuse reactive appendicitis, consistent with CF (Figure E).
Inspissated luminal mucin resulting in an RLQ mass or intussusception has been previously described in patients with CF.1–3 The prevalence is not wellknown because of lack of recent studies. A retrospective study by Coughlin et al1 highlighted a subset of CF patients who are afebrile with a normal white blood cell count and present with a distended, sometimes palpable, appendix with little to no inflammation. These findings in addition to chronic intermittent abdominal pain and focal RLQ tenderness result in an unspecified syndrome in which patients experience relief of symptoms without complications after appendectomy.2 Appendectomy is essential for decreasing morbidity because this condition might eventually result in ileal or cecal obstruction.
Supplementary Data Note: to access the supplementary materials accompanying this article, visit the online version of Clinical Gastroenterology and Hepatology at www.cghjournal.org.
References 1. Coughlin SP, Gauderer MW, Stern RC, et al. The spectrum of appendiceal disease in cystic fibrosis. J Pediatr Surg 1990;25:835– 839. 2. Attand TM, Askin FB, Cuffari C. Appendiceal inversion as a lead point for ileocolic intussusception in a child with cystic fibrosis. J Pediatr Gastroenterol Nutr 2000;31:300 –302. 3. Meyers A, Dolan TF Jr. Mild cystic fibrosis presenting as an asymptomatic distended appendiceal mass: a case report. Clin Pediatr 1975;14:862– 863.
Conflicts of interest The authors disclose no conflicts. © 2009 by the AGA Institute 1542-3565/09/$36.00 doi:10.1016/j.cgh.2009.02.002 CLINICAL GASTROENTEROLOGY AND HEPATOLOGY 2009;7:xxiv