Waardenburg-Shah syndrome

Case contributed by Francis Fortin


Failure to pass meconium. Profound bilateral deafness. Bronze-tinted skin, pale blue iris, hypertelorism. Mother has similar morphologic features with white lock of hair and congenital hearing loss. Half-brother from mother's first union has developmental delay and congenital hearing loss. Two other unaffected half-siblings.

Patient Data

Age: Newborn
Gender: Male

Iodinated contrast enema


Small-caliber rectosigmoid with abrupt caliber change and upstream dilated transverse colon at the splenic flexure, suggestive of Hirschsprung disease.

Patient underwent staged rectal biopsies with findings of numerous Meissner's nerve plexus without ganglion cells and an immunohistochemical profile compatible with Hirschsprung disease. Staged surgery was performed and excisional pathology showed the same findings as biopsy.

Brain MRI was later requested because of spasmus nutans nystagmus.

Brain MRI at 9 months old


Bilateral dilated inner ear vestibule. Dysplastic lateral semicircular canals with small central bony islands. Short and dysplastic posterior semicircular canals.

Isolated right parietal and left cerebellar microbleeds.

Normal gyration and myelination for age.

Bilateral parotid gland hypoplasia. Absent olfactory bulbs.

Case Discussion

Based on physical appearance, family history and imaging/surgical findings of Hirschsprung disease and vestibular/semicircular canal malformations, a diagnosis of Waardenburg type IV (Waardenburg-Shah) syndrome was made by a geneticist, most likely an autosomal dominant form caused by a SOX10 mutation. Parents declined genetic testing.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.