Waardenburg Syndrome in Childhood Deafness in Cameroon

Background. Waardenburg syndrome (WS) is a rare hereditary disorder essentially characterised by deafness and pigment disorders of the eyes; hair and skin.Methods. Between October 2010 and December 2011; we identified six patients with WS during an aetiological survey of 582 deaf participants recruited in schools for the deaf and ear; nose and throat outpatient clinics in seven of the ten regions of Cameroon. Two classic characteristics of WS were used as diagnostic criteria: deafness and pigmentation abnormalities (heterochromia iridis; white forelock and depigmented skin patches). In addition; to identify dystopia canthorum; a sign of WS type I; we calculated the W-index. Results. WS comprised 1 of the whole sample; 7 of the genetic cases; and 50 of the genetic syndromic cases. All patients with WS had severe to profound congenital sensorineural and symmetrical hearing loss with flat audiograms. They also had pigment disorders of the eyes and the skin. In the absence of dystopia canthorum; they were all classified as having WS type II. The pedigree was suggestive of autosomal dominant inheritance in two cases; and the four others seemed to be de novo cases. Conclusion. The results suggest that WS type II is the most common syndromic form of hearing loss among Cameroonians. This has implications for retrospective genetic counselling and hearing tests for earlier management in affected families

Audiometric Findings in Waardenburg's Syndrome amongst the Institutionalised Deaf Blind in Kaduna-Nigeria

Introduction:Waardenburg's syndrome is a rare inherited disorder of congenital hearing loss and Pigmentary disturbances of the eyes; hair; skin and neural crest derivatives. Methodology: 620 students in a deaf/blind school were examined and four had Waardenburg's syndrome with a frequency of 0.65. 2 males and 2 females with Waardenburg's syndrome and age ranges between 10-19years (mean 15.75years) All 4 subjects had complete blue irides; white forelock and sensorineural hearing loss; and thus met the diagnostic criteria. They were then subjected to Audiometric assessment. Results: Otoscopy was essentially normal but Audiometry revealed sensorineural hearing loss [SNHL] in all the subjects ranging from severe to profound with one subject being stone deaf. Conclusion: Waardenburg's syndrome is a rare disorder in our environment although it may be under reported.Two of the subjects benefited from amplification and were given hearing Aids. Provision of early amplification cannot be over emphasized