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Gardner’s syndrome – A case report 佛教慈濟綜合醫院大林分院 內科部胃腸肝膽科 曾國枝 2002/4/6. Chief Complaint. 25 y/o female Burning sensation of throat and acid regurgitation for one week. Past History. Mesentary fibromatosis s/p debulking surgery and bowel resection in 1998 and 2000/7 at CGMH
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Gardner’s syndrome – A case report 佛教慈濟綜合醫院大林分院 內科部胃腸肝膽科 曾國枝 2002/4/6
Chief Complaint • 25 y/o female • Burning sensation of throat and acid regurgitation for one week
Past History • Mesentary fibromatosis s/p debulking surgery and bowel resection in 1998 and 2000/7 at CGMH • Left hydronephrosis s/p PCN insertion on 2000/8 • DM (-), HTN (-), Allergy (-) • Smoking (-), Drinking (-) • Family History: non-contributory
Present Illness (I) • 25 y/o married female • Vomiting and abdominal pain since 1998 • Mesenteric fibromatosis was diagnosed at CGMH • Two times of debulking surgery and bowel resection on 1998 and 2000/7 • Short bowel (80cm) and residual tumor were noted
Present Illness (II) • Admitted to GS ward due to post-prandial vomiting on 2000/8 • Admitted to Urology due to obstructive uropathy on 2000/9
Present Illness (III) • Burning sensation of throat and acid regurgitation for one week • Post-prandial vomiting • Body weight loss
Physical examination • Height: 173.5cm Weight 36 Kg • T/P/R: 36.2/70/19 BP: 120/80 • General appearance: thin and tall • Conscious: clear • Conj: not pale, sclera: not icteric • no oral / buccal pigmentation • Chest: Clear BS, RHB without murmur • Abd: tenderness (-), BS: hyperactive palpable mass over RLQ/hypogastric area, oval shape, 10x 5cm, hard nature, non-movable • Ext: no edema, no pigmentation
Polyposis of stomach Fundic gland polyp
Tentative diagnosis • Polyposis of stomach and duodenum • Mesentary fibromatosis Consider Familial polyposis coli plus soft tissue tumor Gardner’s syndrome
Gardner’s syndrome • Familial polyposis coli • Combined with osteoma and soft tissue tumor Gardner’s syndrome • Combined with Brain tumor Turcot’s syndrome
Polyposis of colon Tubular adenoma
Diagnosis • Gardner’s syndrome with manifestations of a. Polyposis of stomach, duodenum and colon b. mesentery fibromatosis s/p debulking surgery with residual tumor and bilateral hydronephrosis, total GI obstruction and short bowel syndrome c. Osteoma/odontoma of maxillary, frontal bone and mandible
Admission course • Total parenteral nutrition due to total GI obstruction • COX-2 NSAID ( Celebrex ) for familial polyposis coli • Consider C/T with doxorubicin and DITC regimen • Recurrent OSSA sepsis
Further plan • Medical management for fibromatosis • Home total parenteral nutrition • Mental support • Family screening
Discussion • Polyposis of GI tract • Current management of FAP • Gardner’s syndrome • Current management of fibromatosis
Non-neoplastic polyp Hyperplastic polyp Juvenile polyp Inflammatory polyp Lymphoid polyp Neoplastic polyp Benign Tubular adenoma Tubulovillous adenoma Villous adenoma Malignant Carcinoma in situ Intramucosal carcinoma Invasive carcinoma Classification of polyps
Inherited adenomatous polyposis syndrome Classic FAP Gardner’s variant Turcot’s variant Non-familial multiple polyposis syndrome Cronkhite-Canada syndrome Lymphoid polyposis Familial hamartomatous polyposis syndrome Peutz-Jeghers syndrome Juvenile polyposis Classification of polyposis syndrome
Chromosome 5q, APC gene Autosomal dominant Progressive development of hundreds to thousands of adenomatous polyps in colon Inevitable to became colon cancer Onset: 25 y/o cancer: 39 y/o Symptom: 33 y/o death: 42 y/o Diagnosis: 36 y/o 90% identified: 50 y/o Familial adenomatous polyposis
Familial adenomatous polyposis • Surgery • Timing • Extent of surgery ( total proctocolectomy vs. subtotal colectomy ) • Medical management • COX-2 NSAID
Celecoxib vs. FAPN Eng J Med 2000 342 1946-1952 • Double-blind, placebo controlled • Three arm • Celecoxib 100mg bid for 6 months • Celecoxib 400mg bid • Placebo • Colonscopy at beginning and end • Results
Gardner’s Syndrome • Familial adenomatous polyposis • Extraintestinal manifestation • Bone • Osteoma of mandible (90%), skull, and long bones • Exostoses • Dental abnormalities (supernumerary teeth, impacted teeth) • Congenital hypertrophy of the retinal pigmented epithelium (CHRPE) • Mesenteric fibromatosis (Desmoid tumors)
Desmoid tumors • Surgery • High recurrent rate (20-80%) • Radiotherapy • Total dose of 50-60 Gy • As an adjunct to surgery • Drop recurrent rate to 20-40% ( for abdominal wall or extra-abdominen) • No response / higher recurrence for intra-abdominal lesion
Desmoid tumors • Medical therapy • NSAID • Tamoxifen / Medroxyprogesterone / LHRH analouge • Interferon, steroid, colchicine…. • Chemotherapy • Doxorubicin / Dacarbazine