Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
Donya SabeghiKolsoum InanlooRahatlooHanieh S MirzadehMarzieh KhaniHosein ShamshiriTarannomsadat TaghaviAfagh AlaviReza BoostaniSeyed Hassan TonekaboniJavad AkhondianMasoomah EbrahimiNajmeh SalehiShahriar NafissiElahe ElahiPublished in: Acta neurologica Belgica (2024)
A literature search found recent reports of other atypical RTD presentations. These include MRI findings, speech understanding difficulties accompanied by normal hearing, anemia, and left ventricular non-compaction. Knowledge of unusual presentations lessens the chance of misdiagnosis or delayed RTD diagnosis which, in light of favorable effects of riboflavin supplementation, is of immense importance.
Keyphrases