Riboflavin transporter defi ciency – progressive postsynaptic auditory neuropathy and muscle weakness

Ribofl avin transporter defi ciency (RTD) is rare dis ease 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 dia gnosis and ribofl avin substitution treatment. Ribofl avin 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. Key words ribofl avin transporter defi ciency – auditory neuropathy – cochlear implantation