Laryngeal Dystonia with Frequent Stridorous Attacks in Xeroderma Pigmentosum Type A, Would Early Tracheostomy Change the Outcome Case Report and Literature Review

Vocal folds dystonia and total vocal folds paralysis in Xeroderma Pigmentosum Type-A (XPA) are considered rare clinical entities that have been recently described in few case reports from the Japanese literature. We report an 11 years old boy with XPA and seizures and history of frequent emergency room (ER) visits to different local hospitals for recurrent inspiratory stridor which was treated as “croup” since the age of 10. The child was brought into our ER for the first time with recurrent, severe stridor and was admitted as a severe case of “croup”. He was treated for approximately two weeks with only minimal improvement. Laryngoscopy showed normal vocal cord appearance with no signs of inflammation.

Shortly after discharge, he was re-admitted with stridor, which was noticed to be episodic, exacerbated by irritation, excitation and post oral feeding. Stridor subsides completely during sleep. Repeated laryngoscopy was performed to investigate other potential causes of stridor. Flexible rhino-laryngoscopy showed paradoxical vocal folds movement with glottic closure during inspiration and limited glottic opening upon expiration which is consistent with laryngeal dystonia. This case report represents the history, physical examination and the follow up findings in this XPA young boy with unusual presentation with stridor and rare association with vocal cord dystonia. Additionally, it raises the question of the validity of considering early tracheostomy in such cases to avoid repeated non-otherwise avoidable life-threatening stridorous attacks.

Keywords: Xeroderma pigmentosum; Laryngeal dystonia; stridor; Paradoxical vocal fold movement; PVFM; Tracheostomy