Endgames Case Report

Recurrent vomiting and lethargy in an infant—just another viral illness?

BMJ 2010; 341 doi: http://dx.doi.org/10.1136/bmj.c1037 (Published 04 August 2010) Cite this as: BMJ 2010;341:c1037
  1. J Cheung, foundation year 2 doctor1,
  2. M Sharrard, consultant paediatrician2,
  3. H Clements, consultant paediatrician1
  1. 1King’s Mill Hospital, Sutton in Ashfield, NG17 4JL
  2. 2Sheffield Children’s Hospital, Sheffield S10 2TH
  1. Correspondence to: J Cheung op_joy{at}yahoo.co.uk

    An 18 month old girl was admitted to hospital to be investigated for failure to thrive and developmental delay. She presented with a three day history of vomiting, poor fluid intake, and lethargy. She had no fever or associated diarrhoea. She had always been described as a “sickly” child and had often been admitted to hospital, where she was treated for “viral illness.” Her symptoms began at 1 month of age. She had frequent vomiting episodes with no obvious triggers. The episodes usually occurred shortly after feeds. Diarrhoea was sometimes present but she had no associated fever. She grew lethargic during and after these attacks and occasionally was irritable.

    The patient was unable to tolerate solid foods on weaning at age 4 months. Birth had been normal with no perinatal complications, and her immunisations were kept up to date. She reached her developmental milestones up to the age of 10-12 months and then failed to gain new developmental skills. Her weight dropped from the 50th centile at 12 months to below the 0.4th centile at 18 months. Similarly, her height dropped from the 50th centile to below the 9th centile at the same time. Baseline investigations were performed, and full blood count, urea, electrolytes, liver function, thyroid function, bone profile, immunoglobulins, urine dipstick, and stool culture were normal. Ammonia was 191 μmol/l and blood gas values on air were pH 7.4661, partial pressure of carbon dioxide 2.761, and partial pressure of oxygen 22.191.

    Questions

    • 1 What are the differential diagnoses in an infant with recurrent non-specific clinical features, unexplained developmental delay, and failure to thrive?

    • 2 What is the biochemical abnormality responsible for this clinical picture?

    • 3 What are the possible causes of this biochemical picture?

    • 4 How would you manage this condition?

    Answers

    1 What are the differential diagnoses in an infant with recurrent non-specific clinical features, unexplained developmental delay, and failure to thrive?

    Short answer

    The differential diagnoses are metabolic disorder, neglect, coeliac …

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