GI involvement in disseminated Mycobacterium genavense: endoscopy and histology

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1A 34-year-old man ultimately shown to have immunodeficiency and disseminated Mycobacterium genavense associated with protein-losing enteropathy presented with cachexia and generalized weakness. Physical examination revealed a cachectic man with generalized muscle wasting and a protuberant abdomen with shifting dullness, but without tenderness, rebound, or guarding. Laboratory data showed the following: white blood cell count, 4.8 K/µL (normal range 3.98–10.14 K/µL); hemoglobin, 13.6 g/dL (normal range 11.2–15.7 g/dL); platelet count, 73,000/µL (normal range 173–369 K/µL); sodium, 134 mmol/L (normal range 135–144 mmol/L); potassium, 3.7 mmol/L (3.3–5.1 mmol/L); urea nitrogen, 25 mg/dL (normal range 8–22 mg/dL); creatinine, 0.86 mg/dL (normal range 0.56–1.16 mg/dL); alkaline phosphatase, 153 U/L (normal range 37–116 IU/L); alanine aminotransferase, 84 U/L (normal range 6–41 U/L); aspartate aminotransferase, 120 U/L (normal range 9–34 U/L); total protein, 3.9 g/dL (normal range 6.4 – 8.2 g/dL); albumin, 1.4 g/dL (normal range 2.5–4.8 g/dL); preal-bumin, 15 mg/dL (normal range 17–39 mg/dL); 24-hour stool a1- antitrypsin level, 93 mg/dL (normal <54 mg/ dL); trace urinary protein; negative HIV test results; IgG, 377 mg/dL (normal range 642–1730 mg/dL); IgA, 20 mg/dL (normal range, 91–499 mg/dL); IgM, less than 21 mg/dL (normal 34–342 mg/dL); and IgE, 2.4 mg/dL (normal range 0–90.0 IU/mL). CT scan of the abdomen and pelvis revealed nonspecific small-bowel thickening, sigmoid mucosal enhancement, and extensive mesenteric adenopathy (A). EGD revealed diffuse esophageal mucosal denudation and friability, mild thickening of the gastric and duodenal folds (B). Colonoscopy (C) showed mucosal edema, absence of vasculature, and loss of haustral folds. Biopsy specimens (D,E) revealed expansion of the lamina propria, which was filled with foamy macrophages that contained acid-filled bacilli, subsequently shown to be M genavense.