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A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.

ABSTRACT: Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that presented with a bilateral sensorineural hearing loss, mutism, delayed milestones, white forelock, Hirschsprung disease, and bilateral blue homochromatic irises, a finding which is not typical for this subtype. This is the first case of WS with homochromatic irises and the fourth case to be reported from Pakistan.

SUBMITTER: Nusrat M

PROVIDER: S-EPMC6188159 | biostudies-other | 2018 Aug

REPOSITORIES: biostudies-other

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A Case of Waardenburg-Shah Syndrome Type 4 Presenting with Bilateral Homochromatic Blue Irises from Pakistan.

Nusrat Maira M Tariq Muhammad Ali MA Aslam Saher S Zil-E-Ali Ahsan A Shahid Marwah M Mahmood Shafaq S

Cureus 20180814 8

Waardenburg syndrome (WS) is a rare genetic disorder. It is caused by multiple mutations affecting the melanocytes, leading to a multitude of skin, hair, and eye symptoms. It is an autosomal dominant disease with four subtypes, each presenting with varying degrees of sensorineural hearing loss along with a constellation of other symptoms. Hirschsprung disease is unique to Waardenburg-Shah syndrome subtype 4 and is not associated with any other subtype. We present a case of this subtype 4 that pr ...[more]

PMID: 30345200

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