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A Case of Childhood Hearing Loss

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

An 8-year-old boy accompanied by his mother presented with hearing loss. The patient failed a school-administered hearing screening as well as a subsequent hearing screening performed by his pediatrician. According to his mother, the patient had struggled with his hearing, often failing to respond to vocalizations and requiring statements to be frequently repeated. He reportedly passed his newborn hearing screening and his mother had no serious hearing concerns prior to his failed school screening. Physical examination revealed no effusions, while formal audiological testing revealed restricted middle ear mobility and bilateral moderately severe mixed hearing loss rising to normal hearing sensitivity in both ears (Figure, A). Medical history included corrective lens replacement surgery in early childhood and a family history of childhood hearing loss in the patient’s maternal grandfather. A noncontrast computed tomography (CT) scan of the temporal bones revealed bilateral enlargement of the vestibular aqueducts (Figure, B), fistulous communication between the internal auditory canal (IAC) and the basal turn of the cochlea (Figure, C), and a bulbous dilation of the IAC (Figure, D). Given the family history of childhood-onset hearing loss, genetic testing was performed and revealed genetic mutation of the POU3F4 gene.

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B. X-linked deafness 2

X-linked deafness 2, is a rare, nonsyndromic genetic deafness with characteristic radiological findings. In patients with this type of deafness, the vestibular aqueducts are enlarged, and many have a fistulous connection between the IAC and the basal turn of the cochlea.1 These anatomical changes are best demonstrated with CT imaging of the temporal bones.

Also known as stapes gusher syndrome and Nance deafness, X-linked deafness 2 was first described in 1973 by Nance et al as “X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.”2 Stapes gusher refers to the dramatic leakage of perilymphatic fluid during stapes surgery. While the occurrence of a gusher is a rare phenomenon, it is a devastating surgical complication if affected patients are not identified preoperatively via radiologic imaging.3 The association of X-linked deafness with stapes gusher is attributed to an aberrant communication between the subarachnoid and perilymphatic spaces. In the present case, the noncontrast CT images showed a fistulous communication between the IAC and the basal turn of the cochlea (Figure, B and C). This channel between the IAC and the basilar cochlea likely results from the absence of the lamina cribrosa, which is a bony plate that separates the 2 spaces.4 In a case series, Phelps et al5 demonstrated the described radiological findings in 16 of 24 male patients with X-linked mixed hearing loss. Likewise, Papadaki et al6 described the occurrence of X-linked deafness with stapes gusher in 2 sisters with mixed hearing loss. High-resolution CT scan of the 2 patients demonstrated bulbous dilation of the IAC as well as incomplete separation between the IAC and the basal turn of the cochlea.6

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Article Information

Corresponding Author: Lauren Buck, MD, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, 2500 N State St, Jackson, MS 39216 (lsbuck@umc.edu).

Published Online: July 18, 2019. doi:10.1001/jamaoto.2019.1701

Conflict of Interest Disclosures: No disclosures were reported.

Additional Contributions: We thank the patient’s parents and the patient for granting permission to publish this information.

References
1.
The Temporal Bone and Ear. In: Wells  RG, ed.  Diagnostic Imaging of Infants and Children. New York, NY: McGraw-Hill; 2013, http://accesspediatrics.mhmedical.com/content.aspx?bookid=1429&sectionid=8470636.
2.
Nance  WE, Setleff  R, McLeod  A, Sweeney  A, Cooper  C, McConnell  F.  X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.  Birth Defects Orig Artic Ser. 1971;07(4):64-69.PubMedGoogle Scholar
3.
Ernst  A, Snik  FM, Mylanus  IA, Cremers  WR.  Noninvasive assessment of the intralabyrinthine pressure: a new technique applied to patients with X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes surgery.  Arch Otolaryngol Head Neck Surg. 1995;121(8):926-929. doi:10.1001/archotol.1995.01890080092018PubMedGoogle ScholarCrossref
4.
Altay  H, Savaş  R, Oğüt  F, Kirazli  T, Alper  H.  CT and MRI findings in X-linked progressive deafness.  Diagn Interv Radiol. 2008;14(3):117-119.PubMedGoogle Scholar
5.
Phelps  PD, Reardon  W, Pembrey  M, Bellman  S, Luxom  L.  X-linked deafness, stapes gushers and a distinctive defect of the inner ear.  Neuroradiology. 1991;33(4):326-330. doi:10.1007/BF00587816PubMedGoogle ScholarCrossref
6.
Papadaki  E, Prassopoulos  P, Bizakis  J, Karampekios  S, Papadakis  H, Gourtsoyiannis  N.  X-linked deafness with stapes gusher in females.  Eur J Radiol. 1998;29(1):71-75. doi:10.1016/S0720-048X(98)00027-8PubMedGoogle ScholarCrossref
7.
Merchant  SN, Rosowski  JJ.  Conductive hearing loss caused by third-window lesions of the inner ear.  Otol Neurotol. 2008;29(3):282-289. doi:10.1097/MAO.0b013e318161ab24PubMedGoogle ScholarCrossref
8.
Huang  BY, Zdanski  C, Castillo  M.  Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes.  AJNR Am J Neuroradiol. 2012;33(3):399-406. doi:10.3174/ajnr.A2499PubMedGoogle ScholarCrossref
9.
de Kok  YJ, van der Maarel  SM, Bitner-Glindzicz  M,  et al.  Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.  Science. 1995;267(5198):685-688. doi:10.1126/science.7839145PubMedGoogle ScholarCrossref
10.
Lee  HK, Song  MH, Kang  M,  et al.  Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.  Physiol Genomics. 2009;39(3):195-201. doi:10.1152/physiolgenomics.00100.2009PubMedGoogle ScholarCrossref
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