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eMediNexus    09 December 2017

A 5-month-old infant was hospitalized with a 3 days history of constipation, presenting acutely with abdominal pain, lethargy, and dehydration. His parents reported that the baby had been healthy prior to this episode.

On initial examination, the patient was found to have profound encephalopathy, with marked tachypnea and work of breathing, as well as metabolic acidosis.

Investigations revealed that arterial blood gas had a pH of 6.9; pCO2 was 20; and bicarbonate level was <5. In addition, there was profound leukocytosis (WBC 77 K/μL), hyperuricemia (uric acid 15.9 mg/dL), and evidence of pre-renal azotemia [blood urea nitrogen (BUN) 54, Cr 0.82]. Blood glucose was >700 mg/dL.1

What differential diagnosis would you arrive upon for this case?

Reference

  1. Gregory J, Basu S. Diabetic ketoacidosis, hyperuricemia, and encephalopathy intractable to regular-dose insulin. Journal of Pediatric Endocrinology and Metabolism. 2017;0(0). doi:10.1515/jpem-2017-0225.

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