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A hungry baby fails to thrive
  1. C Stewart
  1. Royal Belfast Hospital for Sick Children, 180 Falls Road, Belfast BT12 6BE, UK
  1. Dr Stewartcarolinestewart{at}ukonline.co.uk

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Answers on p 420.

A 6 week old boy, who had been well at birth after a normal delivery at term, was admitted to the local children's hospital in Belfast with a two day history of irritability and poor colour. He had been feeding well and always appeared hungry, taking excessive quantities of formula milk (up to 265 ml/kg/day). He had no vomiting or diarrhoea, but had not regained his birth weight of 2270 g (<3rd centile).

On admission he was extremely restless, with a depressed fontanelle, alert eyes and pale mottled skin. He showed an unusually high level of consciousness of such a severely dehydrated infant. A ketotic smell was detectable on his breath. He had a marked increase in respiratory effort, with a respiratory rate 65 breaths/min, heart rate 200 beats/min, and temperature 38oC. He passed large volumes of very dilute urine. Urinalysis showed glucose ++++, protein ++, blood +, and a large amount of ketones. He developed generalised seizure activity during his initial rehydration. The initial laboratory findings are summarised in the box.

Blood results on admission

  • pH = 7.162

  • Oxygen pressure = 15.0 kPa

  • Carbon dioxide pressure = 1.41 kPa

  • Bicarbonate = 3.7 mmol/l

  • Base excess −22.7 mmol/l

  • Haemoglobin = 107 g/l

  • White cell count = 19.4 × 109/l

  • Platelet count = 737 × 109/l

  • Potassium = 5.8 mmol/l

  • Sodium = 154 mmol/l

  • Urea = 15.1 mmol/l

  • Creatinine = 62 μmol/l

  • Blood glucose = 73.2 mmol/l

Questions

(1)
What is the diagnosis?
(2)
What is the likely long term outcome?
(3)
What is the genetic linkage to this condition?

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