A case of Noonan syndrome and Whipple's disease in the same patient.
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.
Karsan
Sundip S
SS
Cedars-Sinai Medical Center, 8700 Beverly Blvd, Room 5512, Los Angeles, California, CA 90048, USA. sundip.karsan@cshs.org
Karsan
Hetal A
HA
Karsan
Anand S
AS
McMillen
James Ian
JI