Clinical presentation

An 18 year old female underwent upper gastrointestinal endoscopy for investigation of symptomatic iron deficiency anaemia—haemoglobin was 6.8 g/dl, mean corpuscular volume 64 fl, serum ferritin 5 μg/l (normal range 20–330), vitamin B12 390 ng/l (normal range 200–1000), folate level 617 μg/l (normal >100 μg/l), and negative endomysial antibodies. She had a past history of menningococcal meningitis age 13 years and of frequent upper respiratory tract and ear infections. She had a normal diet and had no symptoms of menorrhagia, melena, or malabsorption. Physical examination was unremarkable.

At upper endoscopy, the oesophagus and stomach were entirely normal; however, on entering her duodenal bulb the mucosa was diffusely nodular. This pattern extended into the third part of the duodenum (fig 1). A push enteroscopy showed a similar pattern of mucosal nodularity in the proximal jejenum, and on barium studies this was seen to extend to the terminal ileum (fig 2). Colonoscopy was normal. No focal bleeding source was identified.

• Download figure
• Open in new tab
• Download powerpoint

Figure 1

 Endoscopy image.

• Download figure
• Open in new tab
• Download powerpoint

Figure 2

 Barium follow through image.

Question

What is the diagnosis?

See page 1499 for answer

This case is submitted by: