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

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.