Unfolding the diagnosis: A rare presentation of celiac disease in an adult

Excerpt

A 29-year-old female with a history of epilepsy since childhood presented to the emergency room with acute abdominal pain. Her neurological investigation demonstrated normal brain imaging, and she had no neurological complaints or evidence of recent seizure activity. She had no prior surgeries and was taking lamotrigine 100 mg twice daily. Prior to this acute abdominal pain event, the patient had intermittent bouts of mild abdominal discomfort. Physical examination was normal and the patient had a normal body mass index. Laboratory testing demonstrated albumin of 42 g/L (normal 35–50), Hb 13.8% (normal 12–16), and serum potassium was 4.3 mmol/L (normal 3.5–5 ) while the rest of the blood tests were within the normal range. Computed tomography (CT) scan of the abdomen/pelvis revealed intussusception of the small bowel with no mass lesion (Fig. 1; green arrow, intussusception; red arrow, intussusceptum). The patient was managed conservatively. Subsequently, during her hospitalization the symptoms resolved; a follow up CT was normal and the patient was discharged. As the symptoms resolved, and given the normal CT scan, the patient underwent small bowel capsule endoscopy (Pillcam SB-III, Medtronic, Dublin, Ireland) that demonstrated patchy mucosal atrophy, scalloping of folds, fissuring and mosaic pattern of the duodenal mucosa, and areas of villous atrophy in the jejunum. Jejunojejunal intussusception was seen adjacent to a region of mucosal atrophy (Fig. 2). During and after the video capsule procedure, the patient was asymptomatic and the capsule passed freely. IgA anti-tissue transglutaminase titer was greater than 100 U/mL (normal 0–6.9 U/mL). Upper endoscopy revealed atrophy, fissures, and scalloping of the folds of the duodenum. Duodenal biopsies showed findings consistent with celiac disease (CD) (Modified Marsh Classification IIIa). The patient was started on a gluten-free diet and she had no further episodes of intussusception during follow up of 1 year.

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