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Case report
Rare association of Beckwith-Wiedemann syndrome with Hirschsprung’s disease in an infant with hypoglycemia
  1. Nikhil Shah1,
  2. Anuradha Khadilkar1,2,
  3. Vaman Khadilkar1,2 and
  4. Sagar Lad3
  1. 1Department of Growth and Pediatric Endocrinology, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India
  2. 2Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India
  3. 3Department of Pediatrics, Jehangir Hospital, Pune, Maharashtra, India
  1. Correspondence to Dr Anuradha Khadilkar; anuradhavkhadilkar{at}gmail.com

Abstract

Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung’s disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung’s disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.

  • metabolic disorders
  • paediatric intensive care
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Footnotes

  • Contributors NS, AK and VK were involved in the management of the case and also wrote the manuscript. SL was involved in the management of the case. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved the submission.

  • 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.

  • Patient consent for publication Parental/guardian consent obtained.

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

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