(Radiographics. 1999;19:546-548.)
© RSNA, 1999
Gastrointestinal Case of the Day
Cary A. Newman, MD1,
Warren L. Reuther, III, MD1,
Masako N. Wakabayashi, MD1,
Michelle M. Payette, MD1 and
Branko M. Plavsic, MD, PhD1
1 Department of Radiology, SL54, Tulane University Medical Center, 1430 Tulane Ave, New Orleans, LA 70112
Index Terms: Familial conditions, 70.3114 • Gardner syndrome, 10.3121, 471.3129 • Intestines, 70.3114
 |
HISTORY
|
|---|
A 29-year-old man presented with a history of vague abdominal pain and intermittent diarrhea of several months duration. Chest radiography, contrast material–enhanced computed tomography (CT) of the abdomen and pelvis, an upper gastrointestinal study with small bowel follow-through, skeletal radiography, and upper gastrointestinal endoscopy were performed. The patient refused to undergo a contrast material enema study.
|
FINDINGS
|
|---|
Chest radiography demonstrated a solitary well-defined oval sclerotic lesion of the sixth posterior right rib measuring 9 mm in diameter (Fig 1). Contrast-enhanced abdominal CT showed scattered colonic polyps (Fig 2). No other abdominal masses were noted. The upper gastrointestinal study with small bowel follow-through revealed numerous filling defects, particularly in the proximal small bowel, with a normal-appearing esophagus and stomach (Fig 3). Skull radiography demonstrated multiple sclerotic bone lesions in the skull and mandible (Fig 4). Endoscopy showed multiple friable polyps in the duodenum (Fig 5).
DIAGNOSIS: Gardner syndrome.
|
DISCUSSION
|
|---|
Gardner syndrome was first described in 1953 by Gardner and Richards (1), who found an association between multiple colonic polyps, osteomas, and mesenchymal skin tumors. Most authors believe that Gardner syndrome is a manifestation of familial polyposis (2). One study followed up a set of twins with familial adenomatous polyposis. One twin developed familial polyposis only; the second developed classic findings of Gardner syndrome (3).
Gardner syndrome is an autosomal dominant disorder associated with mutations arising in the adenomatous polyposis coli gene on chromosome 5-q21. However, approximately 20% of patients demonstrate new mutations and have a negative family history (4).
Most patients manifest clinical symptoms by 20 years of age. However, symptoms can occur in patients aged 2 months to 70 years. Our patient presented in his late twenties and had more polyps in the small bowel than in the colon. Clinical signs and symptoms of Gardner syndrome include rectal bleeding, cramping abdominal pain, weight loss, diarrhea, and small bowel or colonic obstruction (5). The main concern is the near 100% rate of malignant transformation of the adenomatous polyps into adenocarcinoma. Total colectomy and removal of all colonic mucosa are advocated but do not ensure cure because these patients are at high risk to develop other tumors (eg, desmoid tumor, papillary thyroid cancer). Lifelong follow-up, including gastrointestinal surveillance, ophthalmologic evaluation for retinal pigmentation anomalies, and thyroid screening is recommended (6).
Extracolonic manifestations of Gardner syndrome often precede the discovery of colonic polyps. These manifestations include gastric and small bowel polyps, duodenal carcinoma, osteomas, sebaceous cysts, dentigerous cysts, supernumerary or unerupted teeth, retinal pigmentation anomalies, epidermoid cysts, mesenteric desmoid tumors, and papillary thyroid cancer. The most frequently reported extracolonic gastrointestinal neoplasms associated with Gardner syndrome are gastric and small bowel adenomas and periampullary duodenal carcinoma (7). Slow-growing mesenteric desmoid tumors are also seen in association with Gardner syndrome. Desmoid tumors with hyperplastic or low-grade neoplastic fibrosis may also develop secondary to the trauma of surgery (8). Papillary thyroid cancer is noted with increasing frequency in patients with Gardner syndrome and is often multicentric (9). A rib osteoma and multiple skull osteomas were seen in our patient. Approximately 50% of patients with Gardner syndrome develop osteomas (2). These lesions are typically located in the skull and mandible but may be seen in other bones as well (Fig 4). They may be endosteal or exosteal and demonstrate sclerosis and deformity without soft-tissue involvement (2).
Because of the autosomal dominant nature of the disease, screening of family members is essential. Surveillance should be initiated by 15 years of age. Double-contrast barium enema studies, upper gastrointestinal series, small bowel follow-through, or enteroclysis and endoscopy are adequate for baseline and yearly follow-up examinations. If molecular techniques suggest a high probability that an asymptomatic patient is a gene carrier, yearly examinations of the large intestine should be performed indefinitely. Half of gene carrier patients have sigmoid polyps by 15 years of age. Approximately 2% of all patients with Gardner syndrome develop periampullary duodenal carcinoma, and periodic endoscopic duodenal screening is recommended. An ongoing survey has been undertaken to evaluate the appropriate intervals for surveillance of the duodenum.
Our patient refused further work-up or therapy and was eventually lost to follow-up. However, gross specimens were obtained in another patient with familial adenomatous polyposis for illustrative purposes and revealed the classic diffuse polyposis seen in Gardner syndrome (Fig 6).
View larger version (145K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 6a. Standard (a) and magnified (b) photographs of a gross specimen obtained from another patient with Gardner syndrome who underwent total colectomy reveal extensive polyposis.
|
|
View larger version (132K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 6b. Standard (a) and magnified (b) photographs of a gross specimen obtained from another patient with Gardner syndrome who underwent total colectomy reveal extensive polyposis.
|
|
|
Footnotes
|
|---|
Address reprint requests to B.M.P.
From the 1998 RSNA scientific assembly.
Received for publication August 17, 1998.
Revision received September 23, 1998. October 12, 1998.
Accepted for publication October 13, 1998.
|
References
|
|---|
-
Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953; 5:139-147.
-
Harned RK, Buck JL, Olmsted WW, Moser RP, Ros PR. Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR 1991; 156:481-485.[Abstract/Free Full Text]
-
Stevenson JK, Reid BJ. Unfamiliar aspects of familial polyposis coli. Am J Surg 1986; 152:81-86.[Medline]
-
Watne AL. Colon polyps. J Surg Oncol 1997; 66:207-214.[Medline]
-
Nelson RL, Orsay CP, Pearl RK, Abcarian H. The protean manifestations of familial polyposis coli. Dis Colon Rectum 1988; 31:699-703.[Medline]
-
Trehan AK, Osborn H, Trehan SK, Aggarwal O. Gardner's syndrome: a case report. J Emerg Med 1995; 13:489-492.[Medline]
-
Lynch HT, Fitzgibbons R, Jr. Surgery, desmoid tumors, and familial adenomatous polyposis: case report and literature review. Am J Gastroenterol 1996; 91:2598-2601.[Medline]
-
Nannery WM, Barone JG, Abouchedid C. Familial polyposis coli and Gardner's syndrome. N J Med 1990; 87:731-733.[Medline]
-
Herrera-Ornelas L, Elsiah S, Petrelli N, Mittelman A. Causes of death in patients with familial polyposis coli (FPC). Semin Surg Oncol 1987; 3:109-117.[Medline]
Top
HISTORY
FINDINGS
