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Rare disease
CASE REPORT
Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child
  1. Amogh Patil1,
  2. Lanka Prathyusha2,
  3. Muganagowda Patil2
  1. 1Sheffield Medical School, University of Sheffield, Sheffield, UK
  2. 2Department of Paediatrics, Bapuji Child Health Institute and Research Centre, Davangere, India
  1. Correspondence to Mr Amogh Patil, apatil2{at}Sheffield.ac.uk

Summary

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung’s disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung’s disease).

  • paediatrics
  • congenital disorders

https://doi.org/10.1136/bcr-2017-222313

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    Footnotes

    • Contributors AP wrote the final report. MP and LP were involved in compiling the information and writing the initial drafts of the case report.

    • Competing interests None declared.

    • Patient consent Guardian consent obtained.

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