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Kearns-Sayre syndrome: presenting with vocal fold palsy
P Diamantopoulou1, V M Ward, M L Harries
1Department of Otolaryngology, Royal Sussex County Hospital, Brighton, UK.
The Journal of Laryngology and Otology
|January 10, 2002
Summary
This study documents the first known case of Kearns-Sayre syndrome manifesting with vocal fold palsy. This rare neurological disorder impacts multiple bodily systems, now including laryngeal function.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA disorder.
- KSS is characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction block.
- Neurological and muscular involvement are common in KSS.
Observation:
- A patient with Kearns-Sayre syndrome presented with new-onset vocal fold palsy.
- Vocal fold palsy was the primary presenting symptom in this case.
- This represents the first documented instance of vocal fold palsy in KSS.
Findings:
- The case highlights an unusual neurological manifestation of KSS.
- Vocal fold palsy can be an early or presenting sign of KSS.
- Detailed neurological and ophthalmological examinations confirmed the diagnosis.
Implications:
- This finding expands the known clinical spectrum of Kearns-Sayre syndrome.
- Awareness of this presentation may aid in earlier diagnosis of KSS.
- Further research is needed to understand the mechanism of laryngeal involvement in KSS.