A Rare Case of Waardenburg-Shah Syndrome without Family History

Aryani Atiyatul Amra; Fithria Aldy; Barii Hafidh Pramono

doi:10.3889/oamjms.2021.6281

Authors

Aryani Atiyatul Amra Department of Ophthalmology, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
Fithria Aldy Department of Ophthalmology, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia
Barii Hafidh Pramono Department of Ophthalmology, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia https://orcid.org/0000-0001-6422-4079

DOI:

https://doi.org/10.3889/oamjms.2021.6281

Keywords:

Waardenburg Syndrome, Hirschsprung Disease, Pediatric Ophthalmology

Abstract

BACKGROUND: Waardenburg syndrome (WS) is an uncommon genetic disorder that is most often characterized by pigmentary disturbance and lateral displacement of inner iris with variety of sensorineural deafness. The prevalence of this syndrome is about 1/42.000–1/50.000 on population. There are approximately 48 cases of WS with Hirschsprung disease (HD) which were being reported up to 2002.

CASE REPORTS: A 7-year-old, Asian boy, routine patient of Pediatric-Surgery Department with HD was transferred from Pediatric-Surgery Department of Haji Adam Malik Hospital Medan to Ophthalmology Department of Universitas Sumatera Utara Hospital Medan with progressive abdominal distance and first ophthalmic evaluation. The patient is accompanied by a history of Hirschsprung disease, malnutrition, and sensorineural hearing loss. There was no family history being discovered. He is responding to visual command. Anterior segment examination showed that there were two different colors of iris – blue colored of the whole left iris and partial right iris. Fundoscopy showed pale retina on both eyes.

CONCLUSION: This patient is diagnosed with Waardenburg-Shah syndrome type IV. It is directly reality with a kind of other congenital disease like HD and no further treatment is needed.

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