Literature DB >> 25994385

Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation.

R Chandran1, M Alexander2, P Naina1, A Balraj1.   

Abstract

BACKGROUND: Brown-Vialetto-Van Laere syndrome is a rare neurological disorder characterised by pontobulbar palsy and sensorineural hearing loss. Hearing rehabilitation continues to be a challenge because the exact lesion site is unknown. CASE REPORT: We examined the clinical and audiological profiles of a case series comprising four siblings with Brown-Vialetto-Van Laere syndrome who had decreased hearing and poor speech discrimination. Audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and middle-ear reflexes in sensorineural hearing loss, suggestive of auditory neuropathy spectrum disorder.
CONCLUSION: The sensorineural hearing loss in Brown-Vialetto-Van Laere syndrome patients is a retrocochlear pathology resembling auditory neuropathy spectrum disorder, with the lesion being most probably of post-synaptic origin. Early cochlear implantation along with high-dose riboflavin represents a possible rehabilitation therapy. However, further research is needed to confirm this. This report emphasises the need for a thorough neurological evaluation of auditory neuropathy spectrum disorder patients.

Entities:  

Keywords:  Auditory; Brainstem; Brown–Vialetto–Van Laere Syndrome; Cochlear Implantation; Evoked Potential; Otoacoustic Emissions; Spontaneous

Mesh:

Year:  2015        PMID: 25994385     DOI: 10.1017/S0022215114003375

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN: 0022-2151            Impact factor:   1.469


  5 in total

1.  SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

Authors:  Tamilarasan Udhayabanu; Veedamali S Subramanian; Trevor Teafatiller; Vykuntaraju K Gowda; Varun S Raghavan; Perumal Varalakshmi; Hamid M Said; Balasubramaniem Ashokkumar
Journal:  Clin Chim Acta       Date:  2016-10-01       Impact factor: 3.786

2.  A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder.

Authors:  Başak Mutlu; Merve Torun Topçu; Ayça Çiprut
Journal:  Turk Arch Otorhinolaryngol       Date:  2019-12-01

3.  Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India.

Authors:  Anjali Lepcha; Reni K Chandran; Mathew Alexander; Ann Mary Agustine; K Thenmozhi; Achamma Balraj
Journal:  Ann Indian Acad Neurol       Date:  2015 Apr-Jun       Impact factor: 1.383

4.  A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.

Authors:  Christophe Carreau; Timothée Lenglet; Isabelle Mosnier; Ghizlene Lahlou; Guillaume Fargeot; Nicolas Weiss; Sophie Demeret; François Salachas; Alice Veauville-Merllié; Cécile Acquaviva; Yann Nadjar
Journal:  Ann Clin Transl Neurol       Date:  2020-02-05       Impact factor: 4.511

5.  Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient.

Authors:  Maria Stella Arantes do Amaral; Eduardo T Massuda; Guilherme Henrique Mitikami Fenólio; Ana Cláudia Mirândola Barbosa Reis; Miguel Angelo Hyppolito
Journal:  J Int Adv Otol       Date:  2022-03       Impact factor: 1.316

  5 in total

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