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Paeds SAQsgenetics-dysmorphology-and-metabolism

Paeds SAQs · genetics-dysmorphology-and-metabolism

Acute metabolic decompensation: recognition and stabilisation

Short-answer question on recognising and resuscitating an infant with acute metabolic decompensation, including interpretation of the metabolic panel and first-hour management.

20 marks25 min1 min readVerification in progress

Target exams

racp_basicracp_advancedmrcpch_theory
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Target exams

racp_basicracp_advancedmrcpch_theory
Prompt
A 4-day-old term infant, previously feeding well, is brought to the emergency department with poor feeding, vomiting, and progressive lethargy over 12 hours. On examination the infant is tachypnoeic (RR 70) with grunting, hypotonic, and intermittently irritable; temperature is 37.8 °C. Initial bloods show pH 7.18, bicarbonate 9 mmol/L, anion gap 26, glucose 3.1 mmol/L, lactate 7.2 mmol/L, and ammonia 340 µmol/L. Septic workup is sent. **(a)** What does the biochemical pattern suggest, and what single test, not yet sent, is most often missed in this presentation? *(4 marks)* **(b)** Outline your first-hour metabolic resuscitation. *(8 marks)* **(c)** Give your indications for urgent dialysis in this infant and name the modality of choice. *(4 marks)* **(d)** List four complications of delayed treatment. *(4 marks)*

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