Reversible deafness caused by biotinidase deficiency - 06/09/11
Doi : 10.1016/S0887-8994(00)00190-9
Rachel Straussberg, MD 
, ⁎, Esther Saiag, MD †, Liora Harel, MD , Stanley H. Korman, MBBS §, Jacob Amir, MD
Department Pediatrics; Schneider Children’s Medical Center of Israel; Sackler School of Medicine; Tel Aviv University; Petah Tiqva, Israel
, ⁎, Esther Saiag, MD †, Liora Harel, MD , Stanley H. Korman, MBBS §, Jacob Amir, MD Department Pediatrics; Schneider Children’s Medical Center of Israel; Sackler School of Medicine; Tel Aviv University; Petah Tiqva, Israel † Metabolic-Genetic Unit; and Electrophysiologic Unit; Schneider Children’s Medical Center of Israel; Sackler School of Medicine; Tel Aviv University; Petah Tiqva, Israel
§ Department of Clinical Biochemistry; Hadassah Medical Center; Hebrew University; Jerusalem, Israel
*Communications should be addressed to: Dr. Straussberg; Department Pediatrics C; Schneider Children’s Medical Center of Israel; Petah Tiqva, Israel
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.
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© 2000
Elsevier Science Inc. Tous droits réservés.
Vol 23 - N° 3
P. 269-270 - septembre 2000 Retour au numéro
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