Presentation
Followed up for neurocristopathy with pale skin and iris, white lock of hair, Hirschsprung disease, congenital hearing loss, visual problems, global developmental delay, and other issues.
Patient Data
Delayed myelination with myelination corresponding to an age of about 2 months (8-month delay). Rarefaction of the white matter associated with a thin corpus callosum. Complete agenesis of the right semicircular canals and agenesis of the left superior and posterior semicircular canals with hypoplasia of the left lateral semicircular canal. Morphological integrity of the cochlear nerves, with hypoplasia of the vestibular nerves.
Absent or severely hypoplastic olfactory bulbs.
Right parotid gland hypoplasia and left parotid fatty infiltration.
Case Discussion
Genetically confirmed Waardenburg-Shah syndrome (Waardenburg type IV) due to a de novo c.897.del mutation of SOX10. MRI shows delayed myelination and vestibular/cochlear malformations, common findings in this rare disease.