| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
Case Report |
1
Department of Radiology, University of Alabama at Birmingham, 619 S. 19th St.,
Birmingham, AL 35249-6830.
2
Department of Surgery, University of Alabama at Birmingham, Birmingham, AL
35249-6830.
Received August 27, 1999;
accepted after revision November 8, 1999.
Address correspondence to M. E. Lockhart.
Introduction
 Top Introduction Case ReportDiscussionReferences |
|---|
|
TopIntroductionCase ReportDiscussionReferences |
|---|
The patient was admitted for clinical examination after undergoing abdominal CT that revealed a 15 x 3 cm appendix extending from the cecum. The appendiceal wall was hyperdense and diffusely thickened, but the lumen was normal in caliber (Fig. 1A). Minimal surrounding inflammatory changes were present. A 4.4 x 3.9 cm slightly heterogeneous, low-density mass was present in the left adrenal gland (Fig. 1B). The gallbladder contained gallstones without wall thickening or surrounding inflammation. We noted no other abnormalities.
|
|
After performing CT, we discovered elevated levels of urine metanephrines. After premedication with phenoxybenzamine, surgery was performed, including cholecystectomy, left adrenalectomy, and partial right colectomy. The adrenal pathologic specimen revealed findings consistent with pheochromocytoma, and the gallbladder contained gallstones with mild surrounding inflammation. The ascending colon contained neuromas and ganglioneuromas in a transmural distribution, and a plexiform neurofibroma was present in the soft tissues adjacent to the appendix (Fig. 1C).
|
|
TopIntroductionCase ReportDiscussionReferences |
|---|
Gastrointestinal involvement in neurofibromatosis is an uncommon entity. In a review of 1399 small-intestine neoplasms by River et al. [5], only 14 cases of gastrointestinal involvement occurred in patients with neurofibromatosis type 1. Another report suggests that fewer than 25% of patients with neurofibromatosis type 1 develop intestinal tumors [6]. In the largest review of patients with neurofibromatosis type 1 and gastrointestinal lesions, 39 cases were described by Hochberg et al. [1]. In that review, the most common lesion locations were the jejunum (17 cases) and the stomach (16 cases), followed by the ileum, duodenum, colon, and mesentery. Presenting symptoms of gastrointestinal involvement included melena, abdominal pain, and hematemesis, followed in frequency by constipation or symptoms of peptic ulcer disease. Complications of bowel involvement by neurofibromatosis type 1 include small-bowel obstruction, bleeding, or perforation. In the comprehensive review by Hochberg et al., only one case involved the appendix. Since 1974, to our knowledge, only five cases have been reported of neurofibromatosis with gastrointestinal ganglioneuromas, including one patient who had giant appendix [7].
Ganglioneuromas may be present in association with neurofibromatosis or as an isolated finding. Isolated ganglioneuromas occur predominantly in the mediastinum, retroperitoneum, colon, and mesentery. Lesions in the gastrointestinal tract may be sessile or polypoid in appearance. Diffuse ganglioneuromatosis has been described in the ileocecal region with associated muscular hypertrophy of the bowel wall. Although the association between diffuse ganglioneuromatosis and neurofibromatosis type 1 is well documented, several cases have been described without the associated findings of the syndrome. In neurofibromatosis, sarcomatous changes are commonly described with neurofibromas; however, cases have also been described with ganglioneuromatosis [8].
The CT findings in our patient are similar to those of gross pathologic descriptions of previous case reports [2]. In both cases, the appendix is uniformly enlarged with a diffusely thickened wall. The high density of the wall is likely caused by the cellular nature of the tumor and is readily differentiated from edema caused by inflammatory changes. Infiltration of the periappendiceal fat may be minimal or absent. Although very few examples have been described, the findings may be pathognomonic if found in a patient with neurofibromatosis type 1. In general, the differential diagnosis of an appendiceal mass might include a variety of lesions, including mucocele, adenocarcinoma, or carcinoid [7].
Pheochromocytoma is another uncommon finding that has been associated with neurofibromatosis type 1. This lesion occurs in fewer than 1% of cases of neurofibromatosis type 1; however, approximately 4-23% of pheochromocytomas occur in the setting of neurofibromatosis type 1 [4].
In conclusion, CT findings of diffuse soft-tissue density enlargement of the appendiceal wall can be seen in appendiceal ganglioneuromatosis, an extremely rare tumor associated with neurofibromatosis type 1. Our patient was also unusual because of the presence of other uncommon associations with neurofibromatosis type 1: pheochromocytoma and periappendiceal plexiform neurofibroma.
|
TopIntroductionCase ReportDiscussionReferences |
|---|
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
This article has been cited by other articles:
|
|
 |
|
  A. D. Levy, N. Patel, N. Dow, R. M. Abbott, M. Miettinen, and L. H. Sobin From the Archives of the AFIP: Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation RadioGraphics, March 1, 2005; 25(2): 455 - 480. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. J. Pickhardt, A. D. Levy, C. A. Rohrmann Jr, and A. I. Kende Primary Neoplasms of the Appendix: Radiologic Spectrum of Disease with Pathologic Correlation RadioGraphics, May 1, 2003; 23(3): 645 - 662. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. J. Pickhardt, A. D. Levy, C. A. Rohrmann Jr., S. L. Abbondanzo, and A. I. Kende Non-Hodgkin's Lymphoma of the Appendix: Clinical and CT Findings with Pathologic Correlation Am. J. Roentgenol., May 1, 2002; 178(5): 1123 - 1127. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. H. Dachman and M. Lockhart CT in Neurofibromatosis Type I Am. J. Roentgenol., December 1, 2000; 175 (6): 1748 - 1748. [Full Text] [PDF]
|
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
