Journal article
Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
International journal of pediatric otorhinolaryngology, Vol.72(1), pp.121-126
2008
DOI: 10.1016/j.ijporl.2007.08.019
PMID: 17936919
Abstract
To report the results of the first known cochlear implantation in a patient with deafness-dystonia-optic neuronopathy (DDON) syndrome (Mohr-Tranebærg syndrome, DFN-1). DDON syndrome is an X-linked condition characterized by postlingual sensorineural hearing loss in early childhood followed by dystonia, psychosis, and optic atrophy in adolescence and adulthood. The gene responsible for the condition maps to Xq22 adjacent to the gene causally related to X-linked agammaglobulinemia. The audiometric characteristics of DDON syndrome are typical of auditory neuropathy, with spiral ganglion cells being the suspected site of pathology. Performance following cochlear implantation in auditory neuropathy patients is variable and has yet to be reported in any patients with DDON syndrome. The reported case describes a male initially diagnosed with X-linked agammaglobulinemia due to recurrent infections. Speech, language and hearing were typical of a child in the first year of life; however profound hearing loss developed and cochlear implantation was performed at age 4. Following implantation, further genetic workup determined that the patient carries a deletion that includes
BTK and
DDP1/TIMM8a, consistent with the diagnosis of X-linked agammaglobulinemia and DDON syndrome. The patient's performance with the cochlear implant was marginal even after 2 years of use, with continued poor scores in standardized speech, language and audiometric tests. Additionally, his most-comfortable-level implant setting requires higher-than-normal current applied to the electrode array. This case report supports other studies showing that DDON syndrome results in an auditory neuropathy. Further investigation is required to determine the efficacy of cochlear implantation in this patient population. DDON syndrome should be considered in patients with X-linked agammaglobulinemia and hearing loss.
Details
- Title: Subtitle
- Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome
- Creators
- James T Brookes - Department of Surgery, Division of Pediatric Surgery, University of Calgary, Calgary, Alberta, CanadaAdam B Kanis - Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospital and Clinics, Iowa City, IA, USALih Yeen Tan - Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospital and Clinics, Iowa City, IA, USALisbeth Tranebjærg - Department of Audiology, Bispebjerg Hospital, DK-2400 Copenhagen NV, DenmarkAbram Vore - Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospital and Clinics, 200 Hawkins Drive, 21151 PFP, Iowa City, IA 52242, USARichard J.H Smith - Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospital and Clinics, 200 Hawkins Drive, 21151 PFP, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- International journal of pediatric otorhinolaryngology, Vol.72(1), pp.121-126
- DOI
- 10.1016/j.ijporl.2007.08.019
- PMID
- 17936919
- NLM abbreviation
- Int J Pediatr Otorhinolaryngol
- ISSN
- 0165-5876
- eISSN
- 1872-8464
- Publisher
- Elsevier Ireland Ltd
- Language
- English
- Date published
- 2008
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006304402771
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