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Type 1 diabetes mellitus presenting with diabetic ketoacidosis in a child with Patau syndrome (trisomy 13) and persistent fetal haemoglobin
  1. James Suntac McTaggart1,
  2. Sindugaa Sivasubramaniam1,
  3. Rosalyn Jewell2 and
  4. James Yong3
  1. 1General Paediatrics, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  2. 2Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  3. 3Children and Young People’s Diabetes Team, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  1. Correspondence to Dr James Suntac McTaggart; james.mctaggart{at}doctors.org.uk

Abstract

A 35-month-old boy with non-mosaic Patau syndrome presented in diabetic ketoacidosis and was diagnosed with type 1 diabetes mellitus. A decision to treat this unanticipated medical problem was made in conjunction with the child’s parent, and he improved with fluid resuscitation and insulin treatment. Acute kidney injury with hypernatraemia complicated his treatment, but this resolved with careful intravenous fluid management. The child survived and was followed up in the diabetes clinic where ongoing management was complicated by persistent fetal haemoglobin, which meant that glycated haemoglobin could not be used to gauge his glucose control.

  • diabetes
  • ethics
  • genetics
  • haematology (incl blood transfusion)
  • paediatrics

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Footnotes

  • Contributors JSM and SS wrote the manuscript and consented the parent. RJ and JY supervised the work-reviewing and adjusting the manuscript. JSM and SS contributed to the inpatient care of the child during the reported episode. JY led on the medical care of the child as an inpatient during the reported episode and now in the clinic.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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