Waardenburg Syndrome in an 8 Year Old African Child: Case Report

Aim: Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity and characterized by deafness, hair discoloration, iris discoloration and eyelid changes. Case Report: We report a case of an 8 year old female child with a history of a striking difference between the eyes since birth. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented. Discussion: The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria Case Report according to Waardenburg consortium. Our patient had 2 major criteria viz disturbances of the iris and dystopia canthorum. Waardenburg syndrome is sub classified into 4 types. The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology, correction for refractive error and use of cosmetic contact lenses. Conclusion: Waardenburg syndrome is a rare disease. In all su impairment, severe musculoskeletal contractures and Hirschsprungs disease should be ruled out


INTRODUCTION
Waardenburg syndrome is a very rare condition, inherited autosomally with genetic heterogeneity. The most frequent characteristic features are deafness, hair discolouration, iris discolouration and eyelid changes. Prevalence in the population is 1:42000, while the incidence is 1:270000 births [1]. The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria.
The major criteria include congenital sensorineural deafness, pigmentary disturbance of the iris, white forlock, dystopia canthorum and an affected first degree relative.
The minor criteria are congenital leucoderma, medial eyebrow flare, broad and high nasal root, hypoplasia of alae narsi, and premature greying of the hair.
We present a case of an 8 year old female child, with Waardenburg syndrome presenting to an ophthalmic unit.

CASE REPORT
Ms A, an 8 year old female child was referred to our unit with a history of a striking difference between the eyes since birth. The mother confirmed the pregnancy was full term, with no significant events during gestation. Birth was a normal, spontaneous vaginal delivery. The milestones were not delayed, and the child was currently enrolled in full time education with no apparent concerns. The patient was the 4th of 5 siblings. No other member of the family has Heterochromia Irides. The mother was 40 years of age, whilst the father was 43 years old. Examination revealed well child, not small for age. The general examination did no abnormality, physically or mentally. The child's hearing was grossly normal. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia syndrome is a very rare condition, inherited autosomally with genetic heterogeneity. The most frequent characteristic features are deafness, hair discolouration, iris discolouration and eyelid changes. Prevalence in the population cidence is 1:270000 births . The diagnosis of WS is considered if there are 2 major or 1 major and 2 minor criteria.
The major criteria include congenital sensorineural deafness, pigmentary disturbance of the iris, white forlock, dystopia canthorum and The minor criteria are congenital leucoderma, medial eyebrow flare, broad and high nasal root, hypoplasia of alae narsi, and premature greying We present a case of an 8 year old female child, with Waardenburg syndrome presenting to an Ms A, an 8 year old female child was referred to our unit with a history of a striking difference . The mother confirmed the pregnancy was full term, with no significant events during gestation. Birth was a normal, spontaneous vaginal delivery. The milestones were not delayed, and the child was currently enrolled in full time education with no concerns. The patient was the 4th of 5 siblings. No other member of the family has Heterochromia Irides. The mother was 40 years of age, whilst the father was 43 years old. Examination revealed well child, not small for age. The general examination did not reveal any abnormality, physically or mentally. The child's hearing was grossly normal. Ocular examination revealed slightly widened medial canthal distances and hypertelorism. There was a lateral displacement of the right inner canthi [Dystopia Canthorum]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented. Fundal examination was normal. No significant refractive error was found. The disease was diagnosed based on the presence of 2 major proposed by the waardenburg consortium viz; pigmentary disturbances of the iris and dystopia canthorum.

Fig. 1. Ocular appearance at presentation
Because of taunting from other children in school and comments about her appearance, the parents were more particular about the eye appearance and sought medical help. The options of management were discussed with the parents including a cosmetic contact lens. Following a successful contact lens trial in clinic, she was subsequently fitted with an 8.3 base curve, plano, hand painted contact lenses with a clear pupil and high DK lenses to enable extended wear [David Thomas UK Ltd].

DISCUSSION
Waardenburg Syndrome is a genetic disorder that may be evident at birth. The range and ; Article no. BJMMR.32921 to Waardenburg consortium. Our patient had 2 major criteria viz pigmentary disturbances of the iris and dystopia canthorum. Waardenburg syndrome is sub classified into 4 The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology, correction for refractive error and use of cosmetic contact spected patient, hearing musculoskeletal contractures and Hirschsprungs disease should be ruled out. m]. The Iris was hypopigmented and bluish in colour in the right eye, whilst the left Iris was brown and darkly pigmented. Fundal examination was normal. No significant refractive error was found. The disease was diagnosed based on the presence of 2 major criteria as proposed by the waardenburg consortium viz; pigmentary disturbances of the iris and dystopia

Ocular appearance at presentation
Because of taunting from other children in school and comments about her appearance, the parents were more particular about the eye appearance and sought medical help. The options of management were discussed with the parents including a cosmetic contact lens. Other occasional associations reported are cleft lip and palate, EEG abnormalities, epilepsy, microphthalmia, anterior lenticonus and high refractive errors [1,7].
In some cases there may be no family history, indicating new mutant gene. Also the condition may be associated with advancing age of the father [Paternal age factor], [8] Onabolu et.al in their report of a case. . Also Omolase et.al reported a recent case of congenital heterochromia iridis in a 6 month old, which however appears to be bilateral hypopigmentation of the iris [13].
Other potential causes of congenital heterochromia should be considered on presentation, including Horner's syndrome, Hirschsprungs disease, incontinentia pigmenti and Parry-Romberg's syndrome. Charrow J. reported an 18 month old African boy with type 1 disease but no hearing loss [14]. 50% of cases do not have hearing impairment. In those that have deafness; it may be unilateral or bilateral, variable in severity and non-progressive but profound.
The management of Waardenburg's syndrome, comprises early detection and referral to the appropriate unit including audiology. In our patient the cosmetic and psychological factors prompted presentation to the eye department. Genetic counselling may have a role especially in situations where consanguinity is an associated factor [15].

CONCLUSION
Waardenburg syndrome is a very rare condition characterized by deafness, hair discolouration, iris discolouration and eyelid changes. In all suspected patient, hearing impairment, severe musculoskeletal contractures and Hirschsprungs disease should be ruled out. Early detection and referral to appropriate unit is vital in management.

CONSENT
All authors declare that 'written informed consent was obtained from the parents for publication of this paper and accompanying images'.

ETHICAL APPROVAL
It is not applicable.