Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose...

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Bibliographic Details
Published in:American journal of neuroradiology : AJNR 2013-06, Vol.34 (6), p.1257-1263
Main Authors: Elmaleh-Bergès, M, Baumann, C, Noël-Pétroff, N, Sekkal, A, Couloigner, V, Devriendt, K, Wilson, M, Marlin, S, Sebag, G, Pingault, V
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Cochlea - abnormalities
Cochlea - diagnostic imaging
Cochlea - pathology
Cochlear Nerve - abnormalities
Cochlear Nerve - diagnostic imaging
Cochlear Nerve - pathology
Diagnosis, Differential
Ear, Inner - abnormalities
Ear, Inner - diagnostic imaging
Ear, Inner - pathology
Female
Hearing Loss, Sensorineural - diagnostic imaging
Hearing Loss, Sensorineural - genetics
Hearing Loss, Sensorineural - pathology
Humans
Infant
Infant, Newborn
Male
Mutation
Olfactory Bulb - abnormalities
Olfactory Bulb - diagnostic imaging
Olfactory Bulb - pathology
Parotid Gland - abnormalities
Parotid Gland - diagnostic imaging
Parotid Gland - pathology
Pediatrics
Radiography
Retrospective Studies
Semicircular Canals - abnormalities
Semicircular Canals - diagnostic imaging
Semicircular Canals - pathology
SOXE Transcription Factors - genetics
Temporal Bone - abnormalities
Temporal Bone - diagnostic imaging
Temporal Bone - pathology
Waardenburg Syndrome - diagnostic imaging
Waardenburg Syndrome - genetics
Waardenburg Syndrome - pathology
Young Adult
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Summary:Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients. Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only. Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13). In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.
ISSN:0195-6108
1936-959X
DOI:10.3174/ajnr.A3367