Endgames Case report

Abdominal distension in a 4 year old

BMJ 2011; 343 doi: https://doi.org/10.1136/bmj.d3614 (Published 03 August 2011) Cite this as: BMJ 2011;343:d3614
  1. Dhanasekhar Kesavelu, specialist registrar in paediatric gastroenterology1,
  2. Mark Dalzell, consultant paediatric gastroenterologist1,
  3. Vicki Eaton, speciality trainee2
  1. 1Alder Hey Children’s Hospital, Liverpool L12 2AP, UK
  2. 2Mersey Deanery, Summers Road, Liverpool L3 4BL, UK
  1. Correspondence to: D Kesavelu dkesavelu{at}doctors.org.uk

A 4 year old girl was referred to the paediatric department with a six month history of abdominal distension, irritable mood, reduced appetite, and weight loss.

She had recently had loose stools four to five times a day without any associated blood or mucus and “crampy” type abdominal pains after eating foods such as bread and oats. This led her mother to suspect a “food allergy,” and avoidance of these foods improved her symptoms.

She had no other medical problems. Her birth and developmental histories were normal, and there was no family history of medical problems.

On examination she had a distended abdomen, which was soft on palpation and tympanic to percussion. There was no organomegaly, ascites, or lymphadenopathy. She had no peripheral signs of gastrointestinal disease, and all other examinations were unremarkable. Her height and weight were plotted on the 25th centile, and there were no previous measurements with which to compare.

Blood investigations showed haemoglobin at 78 g/L (reference range 120-160), total white blood cell count 9.7×109/L (4-11), neutrophils 4.6×109/L (2-7.5), and platelets 211×109/L (150-500). Her blood film was normal, and C reactive protein concentration was 5 mg/L (<5). Liver enzymes and bilirubin were within normal limits, and her albumin was 350 g/L (300-400). Her globulin and immunoglobulin concentrations were normal, but antibodies to tissue transglutaminase were raised at 150 U/ml (0-7 U/ml). Abdominal ultrasound scan was unremarkable.

Questions

  • 1 What are the differential diagnoses?

  • 2 What is the most likely diagnosis?

  • 3 How would you confirm diagnosis?

  • 4 How would you manage this condition, and what is the long term prognosis?

Answers

1 What are the differential diagnoses?

Short answer

The most likely diagnoses are coeliac disease, exocrine pancreatic insufficiency (including cystic fibrosis and Shwachman-Diamond syndrome), giardiasis, malignancy, inflammatory bowel disease, and dietary idiosyncrasy.

Long answer

The patient’s six month history of abdominal …

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