Abstract
Waardenburg syndrome (WS) is an interesting inherited audio-pigmentary disorder. The syndrome shows no gender, racial, or ethnic predilection. This unique disorder is characterized by pigmentary abnormalities, deafness, and neural crest-derived tissue defect. WS can be recognized by some specific clinical features that appear after birth; not all affected individuals possess all the clinical features. It has four clinical sub types based on the mutant gene and characteristic morphology. These morphological features are broad nasal root, white forelock, the difference in the colour of eyes, congenital leukoderma, and sensorineural deafness. We report an interesting case of WS in twin boys who fulfill the criteria of WS-II. Our cases have four major criteria (white forelock, heterochromia, sensorineural hearing loss, first degree relative with WS), and 1 minor criterion to establish the diagnosis of WS-II. Most clinical features of WS-II except sensorineural deafness are benign and do not need any intervention but severe deafness can be a serious problem. The current report is unique and is a rare case of WS in twin infants. We present this case for its rarity, relative paucity of literature, and also to emphasize the clinical presentation of this extremely rare disease in twins.
Highlights
Waardenburg syndrome (WS) is an unusual audio-pigmentary genetic disorder [1]
WS can be recognized by some specific clinical features that appear after birth; not all affected individuals possess all the clinical features
We report an interesting case of WS in twin boys who fulfill the criteria of WS-II
Summary
Waardenburg syndrome (WS) is an unusual audio-pigmentary genetic disorder [1]. The syndrome is named WS after a Dutch ophthalmologist P. Type I is clinically manifested as congenital deafness (sensorineural), dystopia canthorum (lateral displacement of medial eye corners), neural tube defects, cleft palate and lip with patchy depigmentation of hair and skin [1,2]. These symptoms are associated with pigmentary abnormalities of the eyes. Two twin infant boys were referred from the otolaryngology outpatient clinic (ENT) for the complaint of white patches of hair and pigmentary skin changes since birth These symptoms were associated with sensorineural deafness. Wood's lamp examination revealed complete depigmentation over the affected area Audiograms of both infants showed severe sensorineural deafness. We advised the parents to regularly follow the ENT outpatient clinic for further management
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