title: Reversible deafness caused by biotinidase deficiency.
abstract: We present a child with complete biotinidase deficiency who developed bilateral sensorineural deafness without a response to a maximal stimulus of 90 dB in brainstem acoustic-evoked response. After treatment with 20 mg biotin daily, a repeated brainstem acoustic-evoked response demonstrated an improved hearing threshold of 65 dB, and the child began to talk. The case is a rare example of reversible hearing loss caused by to biotinidase deficiency and highlights the need for immediate replacement therapy once the diagnosis is established.
authors.affiliation: Department Pediatrics, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tiqva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Straussberg
authors.forename: E
authors.initials: E
authors.lastname: Saiag
authors.forename: L
authors.initials: L
authors.lastname: Harel
authors.forename: S H
authors.initials: SH
authors.lastname: Korman
authors.forename: J
authors.initials: J
authors.lastname: Amir
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D001710:Biotin / Q000008:administration & dosage; D043523:Biotinidase; D001933:Brain Stem / Q000187:drug effects; D003241:Consanguinity; D003638:Deafness / Q000188:drug therapy / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem / Q000187:drug effects; D006801:Humans; D007223:Infant; D008297:Male
chemical_list: D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase