A 12 1/2-year-old boy has a 6-month history of intermittent right cheek swelling, gingival ulceration, and intermittent diarrhoea. An initial blood test revealed a haemoglobin of 11.4 g%, a CRP of 17 mg/l, and a normal ESR. He underwent a biopsy of the cheek swelling, which revealed granulomatous changes.

What further investigations would you perform to establish the diagnosis?

  1. Abdominal USS
  2. Barium meal and follow-through
  3. GI endoscopy
  4. Bone marrow
  5. Liver function tests



  • Answer: 2, 3

    Crohn’s disease

    This boy was initially diagnosed as having orofacial granulomatosis, but as
    the gastrointestinal features became more obvious he was subsequently
    diagnosed with Crohn’s disease following a barium follow-through examination
    and colonoscopy. Although children often present with gastrointestinal features
    such as abdominal pain or altered bowel habit (diarrhoea or constipation), the
    range of symptoms is protean. General malaise and growth faltering may precede gastrointestinal symptoms. Recurrent oral ulceration and/or anal fissures
    may be the only problem. The disease may involve the joints (non-deforming
    arthritis), eyes (episcleritis), kidney and gallbladder (stones), and liver. Clues to
    the diagnosis of Crohn’s disease may be found with normochromic anaemia
    and thrombocytosis. Inflammatory markers such as ESR and CRP may be elevated. The diagnosis may be confirmed at colonoscopy with tissue biopsy of the affected bowel, which should demonstrate non-caseous granulomatous changes
    on microscopy. Management and treatment are usually coordinated through
    a paediatric gastroenterology service, and consist of oral aminosalicylates and
    (in more severe cases or during relapses) systemic corticosteroids. Other imsuppressants may be used, such as azathioprine. New treatments for severe
    cases include infliximab, an anti-TNF- monoclonal antibody.

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