Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism

Authors

  • Kavinda Chandimal Dayasiri Base Hospital Mahaoya, Sri Lanka
  • Chamila Perera Teaching Hospital Kuliyapitiya, Sri Lanka
  • Wasana Bandara Base Hospital Medirigiriya, Sri Lanka
  • Jagath Ranasinghe Great Ormond Street Hospital, United Kingdom

DOI:

https://doi.org/10.3126/jnps.v39i1.20910

Keywords:

congenital hypothyroidism, infant, Waardenburg Syndrome Type 1

Abstract

Waardenburg syndrome type 1 is a rare autosomal dominant auditory-pigmentary syndrome characterised by pigmentary abnormalities of the hair, skin, and eyes associated with congenital non-progressive sensorineural hearing loss. Diagnosis is usually clinical and based on the characteristic clinical features which constitute major and minor criteria. Though hypothyroidism has been described among family members of children with Waardenburg syndrome type 1 there is no reported existence of the two conditions in the same patient. Here we report Waardenburg Syndrome Type 1 in an infant who was already diagnosed to have congenital hypothyroidism and whether it would be a co incidental finding or an association needs further evaluation.

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Author Biographies

Kavinda Chandimal Dayasiri, Base Hospital Mahaoya, Sri Lanka

Department of Paediatrics

Chamila Perera, Teaching Hospital Kuliyapitiya, Sri Lanka

Department of Paediatrics

Wasana Bandara, Base Hospital Medirigiriya, Sri Lanka

Department of Paediatrics

Jagath Ranasinghe, Great Ormond Street Hospital, United Kingdom

Department of Paediatrics

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Published

2019-04-27

How to Cite

Dayasiri, K. C., Perera, C., Bandara, W., & Ranasinghe, J. (2019). Waardenburg Syndrome Type 1 in an Infant Diagnosed with Congenital Hypothyroidism. Journal of Nepal Paediatric Society, 39(1), 60–62. https://doi.org/10.3126/jnps.v39i1.20910

Issue

Section

Case Reports