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Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis
R G Berkowitz1, A Bankier, J P Moxham
1Department of Otolaryngology, Royal Children's Hospital, Melbourne, Australia.
Insights
Idiopathic congenital bilateral vocal cord paralysis (BVCP) in children may link to chromosomal abnormalities. These genetic issues can affect vocal cord function and spontaneous recovery, warranting genetic testing.
Area of Science:
- Genetics
- Pediatrics
- Otolaryngology
Background:
- Idiopathic congenital bilateral vocal cord paralysis (BVCP) is a rare condition.
- BVCP can be isolated or part of a broader genetic or congenital disorder.
Purpose of the Study:
- To describe chromosomal abnormalities in children with idiopathic congenital BVCP and other congenital anomalies.
- To investigate the impact of chromosomal abnormalities on vocal cord function and recovery in affected children.
Main Methods:
- Retrospective case series of 4 children with idiopathic congenital BVCP and congenital abnormalities.
- Clinical assessment of vocal cord function, including paralysis type (abductor/adductor).
- Karyotyping and chromosomal analysis.
Main Results:
- Four children with idiopathic congenital BVCP and congenital anomalies were identified.
- Three children presented with abductor paralysis, one requiring tracheostomy.
- One child had adductor paralysis, necessitating a feeding gastrostomy for aspiration.
- No significant improvement in vocal cord function was observed in any child during the study period.
- Chromosomal abnormalities were identified in the affected children.
Conclusions:
- Idiopathic congenital BVCP associated with other congenital disorders may indicate an underlying chromosomal abnormality.
- Chromosome studies are recommended for children with idiopathic congenital BVCP and other congenital anomalies.
- Vocal cord dysfunction should be considered in children with known chromosomal abnormalities.
- Chromosomal abnormalities may negatively impact spontaneous improvement of vocal cord function in BVCP.
Abstract:
Idiopathic congenital bilateral vocal cord paralysis (BVCP) can occur as an isolated abnormality or as part of a multisystem disorder. The chromosomal abnormalities found in 4 children who presented with idiopathic congenital BVCP in association with other congenital abnormalities between January 1991 and April 1999 are described. Three children had abductor paralysis, and tracheostomy was required in 1. The fourth child had adductor paralysis and required a feeding gastrostomy for management of aspiration. There was no clinically significant improvement in vocal cord function observed in any child. Idiopathic congenital BVCP, when associated with other congenital disorders, may occur as a consequence of an underlying chromosomal abnormality, and chromosome studies should be performed in this group of children. Similarly, the possibility of vocal cord dysfunction should be considered in children who are found to have chromosomal abnormalities. A chromosomal abnormality appears to preclude the possibility of early spontaneous improvement in vocal cord function.