Pathophysiology
This study identifies an Xq27.1 palindrome mediated interchromosomal insertion as a potential genetic cause for familial cases of bilateral congenital vocal cord paralysis, challenging previous assumptions about immaturity of neural pathways [PMID:35095096].
Comparisons with other families indicate possible hereditary causes for congenital abductor paralysis, providing insights into its underlying mechanisms [PMID:3688762].
Epidemiology
Two brothers in their early 50s presented with acute stridor due to bilateral abductor vocal fold paralysis, born to consanguineous parents, indicating a potential autosomal recessive basis [PMID:26401672].
We discuss the cases of a mother and daughter with paralysis of laryngeal abduction at birth as an isolated symptom, suggesting a potential hereditary component [PMID:3688762].
Clinical Presentation
Both patients exhibited acute stridor as the primary symptom, with normal neurologic examination results and no other associated symptoms [PMID:26401672].
Diagnosis
The research highlights that up to 60% of monogenetic diseases remain unsolved with current diagnostic methods due to their limitations in detecting structural variants, suggesting the need for advanced SV detection techniques [PMID:35095096].
Management
Both affected patients necessitated emergency surgical tracheostomy due to the severity of their airway compromise [PMID:26401672].
A plan of diagnosis and management is presented, highlighting the importance of tailored clinical approaches for affected infants [PMID:3688762].
Special Populations
The study reports on familial instances of Plott syndrome, indicating that genetic factors play a significant role in these rare cases, which may differ from sporadic idiopathic presentations [PMID:35095096].
References
1 Boschann F, Moreno DA, Mensah MA, Sczakiel HL, Skipalova K, Holtgrewe M et al.. Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of human genetics 2022. link 2 Amir I, Crow YJ, Morar P. Adult-onset familial vocal fold paralysis. Ear, nose, & throat journal 2015. link 3 Isaacson G, Moya F. Hereditary congenital laryngeal abductor paralysis. The Annals of otology, rhinology, and laryngology 1987. link