Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.

Abstract

Background: Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. Objective: To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Methodology: Case series with a review of the literature. Results: The APDs presented here in the 3 children include Waardenburg syndrome type 1, Clouston syndrome, and Waardenburg syndrome type 4 (Waardenburg-Shah syndrome). The characteristic clinical features, audiologic tests, imaging, and the necessary genetic tests carried out subsequently were noted and evaluated. All the children were male and were aged 2 years, 1 year, and 14 months, respectively. All of them had hearing loss and non-development of verbal speech and had some form of oculocutaneous depigmentation. The challenges in the diagnosis, the work-up, and the close differentials were discussed, and the relevant literature was reviewed. Conclusions: The APDs connect congenital depigmentation with prelingual hearing loss through various syndromic disorders. These disorders are not commonly encountered in routine clinical practice; therefore, their proper knowledge is essential for early diagnosis of congenital hearing loss and timely initiation of auditory and speech rehabilitation. This case series deals with a detailed illustration of a few syndromes of the APDs and highlights their clinical presentation and genetic background.