Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature ...graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes.
Waardenburg syndrome is an autosomal dominant disorder with an incidence of 1 in 40,000 that manifests with sensorineural deafness, pigmentation defects of the skin, hair and iris and various defects ...of neural crest-derived tissues. This genetically heterogeneous disease accounts for >2 % of the congenitally deaf population. Mutations in the
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
, and
SOX10
genes can cause Waardenburg syndrome. We here report a case of 12 year old female who presented with chief complaint of decreased hearing in both ears and had clinical features consistent with Waardenburg syndrome. She had a distinct white forelock of hair in the midline along with striking bilateral blue iris. Also a white depigmented patch was present on the right forearm. Both eyes had bright red fundal reflex with choroidal depigmentation. Her younger brother, the second case in this study, had similar blue eyes, white forelock of hair, depigmented skin patch and choroidal depigmentation but with normal hearing. Their father had a history of premature graying of hair. All the primary care physicians coming across a child with blue eyes and white forelock of hair should get the child’s hearing tested at the first instance, if not already tested. An early diagnosis and improvement of hearing impairment with timely intervention are the most important for psychological and intellectual development of children with Waardenburg syndrome.
Abstract Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Objective The aim of the ...article is to study the relative frequency of associations in 6 consecutive cases of SWS. Methods A review of 6 consecutive patients with SWS was performed to study the frequency of various components of the syndrome. Results Six patients had features of SWS. All patients had HD; of these, 3 had rectosigmoid HD, whereas 3 had extended HD. All patients had white forelock of hairs with skin depigmentation. One patient had sensorineural deafness, whereas other babies were less than 1 year, and thus, full evaluation of hearing deficiency was not assessed. Three patients had blue eyes, whereas other babies had normal iris pigmentation. Skin depigmentation was noted in 5 of the 6 patients. Three babies were seriously malnourished and showed higher association of enterocolitis. Conclusion Shah-Waardenburg syndrome is an uncommon association of HD. Depigmentation with a white forelock and skin manifestations are common, whereas blue iris, long segment disease, and enterocolitis are present in nearly half of the patients.
A 43-year-old woman (case II-2) with dystopia canthorum, white forelock, blue iris in the left eye, hypopigmented fundi, and systemic hypertension complained of visible floaters in the left eye. ...Whitish branch retinal vein, preretinal hemorrhages and neovascularization were found in the left fundus. Her intraocular pressure in the left eye was sometimes elevated to 22 mm Hg. The patient's brother (case II-3) was reported to have blue irises in both eyes. We believe that these patients have Waardenburg syndrome, that branch retinal vein occlusion in case II-2 may be caused chiefly by systemic hypertension, and that elevated intraocular pressure associated with the blue iris may be partly involved in the pathogenesis of vein occlusion in the left eye.
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