Visual Diagnosis: Chronic Diarrhea and Failure to Thrive in a 5-Year-Old Girl

Presentation

A 5-year-old girl presents to the clinic with a history of chronic diarrhea and failure to thrive of 6 months’ duration. She had a known history of hemophagocytic lymphohistiocytosis diagnosed at age 2 months. Six months later, she underwent allogeneic bone marrow transplantation (BMT) (unrelated peripheral blood stem cell). The mother describes the diarrhea as mucousy and bloody. The diarrhea (8 loose bowel movements per day) is associated with weight loss. She has a poor appetite but no vomiting or abdominal distension. She has no rashes. She was a product of full-term, normal pregnancy. Her review of system findings were unremarkable.

Physical examination reveals that her weight and height are both below the fifth percentile for age. Vital signs are normal. She is listless and dehydrated. The rest of physical examination findings are normal.

The laboratory study findings include a hemoglobin level of 9.2 g/dL (92 g/L) (reference range, 12.2–15.3 g/dL [122–153 g/L]) and normal white blood cell, platelet, C-reactive protein, bilirubin, alkaline phosphatase, alanine transaminase and aspartate aminotransferase values. The stool samples contains many white blood cells, but her stool culture results are negative. Sigmoidoscopy reveals erythematous mucosa and multiple ulcers (Figure 1). The histopathologic biopsy of the sigmoid reveals crypt apoptotic epithelial cells (Figure 2). A diagnosis …