Reversible deafness caused by biotinidase deficiency.
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.
Straussberg
R
R
Department Pediatrics, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tiqva, Israel.
Saiag
E
E
Harel
L
L
Korman
S H
SH
Amir
J
J
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
D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase