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A case of Noonan syndrome and Whipple’s disease in the same patient

By Sundip S Karsan, Hetal A Karsan, Anand S Karsan and James Ian McMillen


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

Topics: Case Report
Publisher: The WJG Press and Baishideng
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Provided by: PubMed Central
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