Riboflavin transporter deficiency – progressive postsynaptic auditory neuropathy and muscle weakness
Authors:
V. Kruntorád; J. Odstrčilík; M. Urík; D. Hošnová; M. Bartoš
Authors‘ workplace:
Klinika dětské otorhinolaryngologie LF MU a FN Brno
Published in:
Otorinolaryngol Foniatr, 74, 2025, No. 1, pp. 52-58.
Category:
Review Article
doi:
https://doi.org/10.48095/ccorl202552
Overview
Riboflavin transporter deficiency (RTD) is rare disease characterized by progressive loss of cranial and somatic nerve function. Typically ptosis, bulbar syndrome, muscle weakness, and auditory neuropathy are manifested. Without treatment, this leads to death caused by respiratory failure, especially when it starts in childhood. In this paper, we present two siblings with RTD and demonstrate the necessity of early diagnosis and riboflavin substitution treatment. Riboflavin substitution can prevent hearing loss and increase the chance for successful hearing rehabilitation. Comparison with other existing literature is given. We recommend to test every child with captured auditory neuropathy spectrum disorder for a multi-gene NGS/MPS panel and provide substitution treatment before genetic test results, especially when other symptoms are manifested.
Keywords:
cochlear implantation – riboflavin transporter deficiency – auditory neuropathy
Sources
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Labels
Audiology Paediatric ENT ENT (Otorhinolaryngology)Article was published in
Otorhinolaryngology and Phoniatrics
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