Vocal fold dystonia and total vocal fold paralysis in Xeroderma Pigmentosum Type-A (XPA) are rare clinical conditions that have been recently described in a few case reports from the Japanese literature.We report here an 11-year-old boy with XPA and seizures and a history of frequent emergency room (ER) visits to different local hospitals for recurrent inspiratory stridor that was treated as “croup” since the age of 10. The child was brought to 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 readmitted with episodic stridor, exacerbated by irritation, excitation and post-oral feeding. The stridor subsided completely during sleep. Repeated laryngoscopy was performed to investigate other potential causes of stridor. Flexible rhino-laryngoscopy showed paradoxical vocal fold 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 case of XPA in a young boy with unusual presentation with stridor and rare association with vocal cord dystonia. Additionally, it illustrates the importance of proper examination and laryngoscopy in this fragile patient group for early diagnosis, proper treatment and prevention of life-threatening consequences.
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