Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings

A. K. Morimoto, R. H. Wiggins, P. A. Hudgins, G. L. Hedlund, Bronwyn Hamilton, S. K. Mukherji, S. A. Telian, H. R. Harnsberger

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome. MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained. RESULTS: Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of 26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26 (12%) internal auditory canals were small. CONCLUSION: The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.

Original languageEnglish (US)
Pages (from-to)1663-1671
Number of pages9
JournalAmerican Journal of Neuroradiology
Volume27
Issue number8
StatePublished - Sep 2006
Externally publishedYes

Fingerprint

Choanal Atresia
Semicircular Canals
Intellectual Disability
Ear
Cochlear Nerve
Middle Ear
Cochlea
Inner Ear
Vestibular Aqueduct
Coloboma
Cochlear Implantation
Ankylosis
Temporal Bone
Facial Nerve
Hearing
Veins
Pathologic Constriction
Physicians

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

Cite this

Morimoto, A. K., Wiggins, R. H., Hudgins, P. A., Hedlund, G. L., Hamilton, B., Mukherji, S. K., ... Harnsberger, H. R. (2006). Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings. American Journal of Neuroradiology, 27(8), 1663-1671.

Absent semicircular canals in CHARGE syndrome : Radiologic spectrum of findings. / Morimoto, A. K.; Wiggins, R. H.; Hudgins, P. A.; Hedlund, G. L.; Hamilton, Bronwyn; Mukherji, S. K.; Telian, S. A.; Harnsberger, H. R.

In: American Journal of Neuroradiology, Vol. 27, No. 8, 09.2006, p. 1663-1671.

Research output: Contribution to journalArticle

Morimoto, AK, Wiggins, RH, Hudgins, PA, Hedlund, GL, Hamilton, B, Mukherji, SK, Telian, SA & Harnsberger, HR 2006, 'Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings', American Journal of Neuroradiology, vol. 27, no. 8, pp. 1663-1671.
Morimoto AK, Wiggins RH, Hudgins PA, Hedlund GL, Hamilton B, Mukherji SK et al. Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings. American Journal of Neuroradiology. 2006 Sep;27(8):1663-1671.
Morimoto, A. K. ; Wiggins, R. H. ; Hudgins, P. A. ; Hedlund, G. L. ; Hamilton, Bronwyn ; Mukherji, S. K. ; Telian, S. A. ; Harnsberger, H. R. / Absent semicircular canals in CHARGE syndrome : Radiologic spectrum of findings. In: American Journal of Neuroradiology. 2006 ; Vol. 27, No. 8. pp. 1663-1671.
@article{686a3b109f654e4f8ab66455417e056f,
title = "Absent semicircular canals in CHARGE syndrome: Radiologic spectrum of findings",
abstract = "BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome. MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained. RESULTS: Twenty of 26 (77{\%}) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81{\%}) cochlea had some form of dysplasia. Six of 26 (23{\%}) round windows were aplastic. Three of 26 (12{\%}) round windows were hypoplastic. Twenty-one of 26 (81{\%}) oval windows were atretic or aplastic. Fifteen of 26 (58{\%}) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19{\%}) enlarged vestibular aqueducts. Twelve of 26 (46{\%}) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88{\%}) facial nerve canals had an anomalous course. Four of 26 (15{\%}) tympanic segments were prolapsed. Three of 26 (12{\%}) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81{\%}) middle ear cavities were small. Twenty-three of 26 (93{\%}) ossicles were dysplastic with ankylosis. Three of 26 (12{\%}) internal auditory canals were small. CONCLUSION: The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.",
author = "Morimoto, {A. K.} and Wiggins, {R. H.} and Hudgins, {P. A.} and Hedlund, {G. L.} and Bronwyn Hamilton and Mukherji, {S. K.} and Telian, {S. A.} and Harnsberger, {H. R.}",
year = "2006",
month = "9",
language = "English (US)",
volume = "27",
pages = "1663--1671",
journal = "American Journal of Neuroradiology",
issn = "0195-6108",
publisher = "American Society of Neuroradiology",
number = "8",

}

TY - JOUR

T1 - Absent semicircular canals in CHARGE syndrome

T2 - Radiologic spectrum of findings

AU - Morimoto, A. K.

AU - Wiggins, R. H.

AU - Hudgins, P. A.

AU - Hedlund, G. L.

AU - Hamilton, Bronwyn

AU - Mukherji, S. K.

AU - Telian, S. A.

AU - Harnsberger, H. R.

PY - 2006/9

Y1 - 2006/9

N2 - BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome. MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained. RESULTS: Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of 26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26 (12%) internal auditory canals were small. CONCLUSION: The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.

AB - BACKGROUND AND PURPOSE: This paper describes the CT findings that characterize the middle and inner ear anomalies in coloboma, heart defects, choanal atresia, mental retardation, genitourinary, and ear anomalies (CHARGE) syndrome. With this information, neuroradiologists will be better prepared to provide clinically relevant information to their referring physicians regarding this rare syndrome. MATERIALS AND METHODS: CT studies from 13 patients were reviewed by 2 neuroradiologists with Certificate of Additional Qualification. Each ear was counted separately for a total of 26 ears. Middle and inner ear anomalies associated with CHARGE syndrome were categorized. Investigational review board approval was obtained. RESULTS: Twenty of 26 (77%) ears demonstrated cochlear aperture atresia. Four of these ears were evaluated with MR imaging and were found to lack a cochlear nerve. Twenty-one of 26 (81%) cochlea had some form of dysplasia. Six of 26 (23%) round windows were aplastic. Three of 26 (12%) round windows were hypoplastic. Twenty-one of 26 (81%) oval windows were atretic or aplastic. Fifteen of 26 (58%) vestibules were hypoplastic or dysplastic. There were 5 of 26 (19%) enlarged vestibular aqueducts. Twelve of 26 (46%) vestibular aqueducts had an anomalous course. All cases demonstrated absent semicircular canals. Twenty-three of 26 (88%) facial nerve canals had an anomalous course. Four of 26 (15%) tympanic segments were prolapsed. Three of 26 (12%) temporal bones had an anomalous emissary vein referred to as a petrosquamosal sinus. Twenty-one of 26 (81%) middle ear cavities were small. Twenty-three of 26 (93%) ossicles were dysplastic with ankylosis. Three of 26 (12%) internal auditory canals were small. CONCLUSION: The CT findings that correlate to the anomalies of CHARGE syndrome affect conductive as well as sensorineural hearing. Stenosis of the aperture for the cochlear nerve aperture on CT is suggestive of hypoplasia or absence of the cochlear nerve, which has been demonstrated in some cases by MR. Absence of the cochlear nerve would be a contraindication to cochlear implantation.

UR - http://www.scopus.com/inward/record.url?scp=33748777158&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748777158&partnerID=8YFLogxK

M3 - Article

C2 - 16971610

AN - SCOPUS:33748777158

VL - 27

SP - 1663

EP - 1671

JO - American Journal of Neuroradiology

JF - American Journal of Neuroradiology

SN - 0195-6108

IS - 8

ER -