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Reversible deafness caused by biotinidase deficiency
R Straussberg1, E Saiag, L Harel
1Department Pediatrics, Schneider Children's Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petah Tiqva, Israel.
Pediatric Neurology
|October 18, 2000
Summary
Complete biotinidase deficiency caused reversible sensorineural deafness in a child. Prompt biotin treatment improved hearing and speech, demonstrating the critical need for timely intervention.
Area of Science:
- Genetics and Metabolic Disorders
- Audiology and Neuroscience
Background:
- Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
- Untreated deficiency can lead to severe neurological symptoms, including hearing loss.
Observation:
- A child with complete biotinidase deficiency presented with bilateral sensorineural deafness.
- Initial brainstem acoustic-evoked response showed no response to a 90 dB stimulus.
Findings:
- Daily biotin supplementation (20 mg) led to a significant hearing improvement.
- Repeated brainstem acoustic-evoked response showed an improved threshold of 65 dB.
- The child regained speech ability post-treatment.
Implications:
- This case demonstrates that hearing loss in biotinidase deficiency can be reversible.
- Highlights the importance of early diagnosis and immediate biotin replacement therapy.
- Underscores the link between metabolic disorders and auditory function.
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