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©2009 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Mar 28, 2009; 15(12): 1524-1527
Published online Mar 28, 2009. doi: 10.3748/wjg.15.1524
Published online Mar 28, 2009. doi: 10.3748/wjg.15.1524
A case of Noonan syndrome and Whipple’s disease in the same patient
Sundip S Karsan, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Room 5512, Los Angeles, California, CA 90048, United States
Hetal A Karsan, Emory University School of Medicine and Atlanta Gastroenterology Associates, Atlanta, GA 30322, United States
Anand S Karsan, University of California, San Diego, CA 92093, United States
James Ian McMillen, Atlanta Clinical Care and Atlanta Specialty Research, Atlanta, GA 30322, United States
Author contributions: Karsan SS, Karsan HA, Karsan AS contributed equally to this work and were responsible for the review of the literature and initial preparation of the paper; Karsan SS and Karsan HA wrote the paper and had final approval of the version to be published; McMillen JI contributed to revising it critically for important intellectual content.
Correspondence to: Sundip S Karsan, MD, MPH, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Room 5512, Los Angeles, California, CA 90048, United States. sundip.karsan@cshs.org
Telephone: +1-650-9068387
Fax: +1-650-4946112
Received: December 1, 2008
Revised: February 16, 2009
Accepted: February 23, 2009
Published online: March 28, 2009
Revised: February 16, 2009
Accepted: February 23, 2009
Published online: March 28, 2009
Abstract
We report the first known case of both Noonan syndrome and Whipple’s disease occurring in the same patient. A 36-year-old female with history of Noonan syndrome developed fatigue, anorexia, arthritis of the knees and hands with a diffuse hyperpigmented rash, night sweats, and an unintentional fifteen pound weight loss over 4 mo. Small bowel enteroscopy demonstrated mild edematous yellowish mucosa without friability. Random small bowel biopsies revealed extensive periodic acid-Schiff positive material within the foamy macrophages. She was treated with a 12 mo course of trimethoprim-sulfamethoxazole DS with clinical improvement to baseline status.
Keywords: Whipple’s disease; Noonan syndrome; Tropheryma whipplei; Periodic acid-schiff stain; PTPN11 gene