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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

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

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  1. 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

  2. Chief Complaint • 25 y/o female • Burning sensation of throat and acid regurgitation for one week

  3. 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

  4. 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

  5. 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

  6. Abdominal CT

  7. Present Illness (III) • Burning sensation of throat and acid regurgitation for one week • Post-prandial vomiting • Body weight loss

  8. 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

  9. Polyposis of stomach Fundic gland polyp

  10. Tentative diagnosis • Polyposis of stomach and duodenum • Mesentary fibromatosis  Consider Familial polyposis coli plus soft tissue tumor  Gardner’s syndrome

  11. Familial adenomatous polyposis with associated syndrome

  12. Gardner’s syndrome • Familial polyposis coli • Combined with osteoma and soft tissue tumor  Gardner’s syndrome • Combined with Brain tumor  Turcot’s syndrome

  13. Polyposis of colon Tubular adenoma

  14. Abdominal CT

  15. Osteoma

  16. Odontoma

  17. Mesenteric fibromatosis

  18. 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

  19. 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

  20. Further plan • Medical management for fibromatosis • Home total parenteral nutrition • Mental support • Family screening

  21. Discussion • Polyposis of GI tract • Current management of FAP • Gardner’s syndrome • Current management of fibromatosis

  22. 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

  23. 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

  24. Familial adenomatous polyposis with associated syndrome

  25. 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

  26. Familial adenomatous polyposis • Surgery • Timing • Extent of surgery ( total proctocolectomy vs. subtotal colectomy ) • Medical management • COX-2 NSAID

  27. 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

  28. 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)

  29. 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

  30. Desmoid tumors • Medical therapy • NSAID • Tamoxifen / Medroxyprogesterone / LHRH analouge • Interferon, steroid, colchicine…. • Chemotherapy • Doxorubicin / Dacarbazine

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