CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery.
To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were reviewed in consensus by two head-and-neck radiologists and two otological surgeons. Anatomical structures of the temporal bone were evaluated and correlated with genetic data. Abnormalities that might affect CI surgery were seen, such as a vascular structure, a petrosquamosal sinus (13 %), an underdeveloped mastoid (8 %) and an aberrant course of the facial nerve crossing the round window (9 %) and/or the promontory (18 %). The appearance of the inner ear varied widely: in 77 % of patients all semicircular canals were absent and the cochlea varied from normal to hypoplastic. A stenotic cochlear aperture was observed in 37 %. The middle ear was often affected with a stenotic round (14 %) or oval window (71 %). More anomalies were observed in patients with truncating mutations than with non-truncating mutations. Temporal bone findings in CHARGE syndrome vary widely. Vascular variants, aberrant route of the facial nerve, an underdeveloped mastoid, aplasia of the semicircular canals, and stenotic round window may complicate cochlear implantation.
Department of ENT, Radboud University Medical Centre, Postbus 9101, 6500 HB, Nijmegen, Netherlands. Annemarie.vesseur@radboudumc.nl.
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AC
Vesseur
Department of Radiology, Radboud University Medical Centre, Postbus 9101, 6500 HB, Nijmegen, Netherlands.|Department of Radiology, Leiden University Medical Centre, Postbus 9600, 2300 RC, Leiden, Netherlands.
B M
BM
Verbist
Department of Radiology, University Medical Centre Groningen, University of Groningen, Postbus 30.001, 9700 RB, Groningen, Netherlands.
H E
HE
Westerlaan
Department of ENT, University Medical Centre Groningen, University of Groningen, Postbus 30.001, 9700 RB, Groningen, Netherlands.
F J J
FJJ
Kloostra
Department of ENT, Radboud University Medical Centre, Postbus 9101, 6500 HB, Nijmegen, Netherlands.
R J C
RJC
Admiraal
Department of Genetics, University Medical Centre Groningen, University of Groningen, Postbus 30.001, 9700 RB, Groningen, Netherlands.
C M A
CMA
van Ravenswaaij-Arts
Department of ENT, University Medical Centre Groningen, University of Groningen, Postbus 30.001, 9700 RB, Groningen, Netherlands.
R H
RH
Free
Department of ENT, Radboud University Medical Centre, Postbus 9101, 6500 HB, Nijmegen, Netherlands.
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EAM
Mylanus
D000293:Adolescent; D000328:Adult; D058747:CHARGE Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities / Q000000981:diagnostic imaging; D019929:Cochlear Implantation / Q000379:methods; D003054:Cochlear Implants; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004432:Ear, Middle / Q000002:abnormalities / Q000000981:diagnostic imaging; D005154:Facial Nerve / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008416:Mastoid / Q000002:abnormalities / Q000000981:diagnostic imaging; D008875:Middle Aged; D010036:Otolaryngology; D011871:Radiology; D012189:Retrospective Studies; D012405:Round Window, Ear / Q000002:abnormalities / Q000000981:diagnostic imaging; D012665:Semicircular Canals / Q000002:abnormalities; D013701:Temporal Bone / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human
Anatomy; CHARGE syndrome; Cochlear implant; Genetics; Temporal bone