Congenital bilateral recurrent nerve paralysis and ptosis: a new syndrome?
Bilateral vocal cord paralysis is a rare, but not unheard of, occurrence in the perinatal period. It is often incompatible with life unless the problem is recognized promptly, the child intubated, and--following this--a tracheotomy performed. Bilateral congenital ptosis is a very rare occurrence and is almost always associated with either significant central nervous system deficit or with other oculomotor problems. The combination of congenital bilateral recurrent nerve paralysis and congenital ptosis has not been previously reported in the English language literature. The author has had the opportunity to manage two patients, a father and his daughter, both of whom manifested this unusual combination of symptoms. Detailed case histories are presented. Both of the patients were successfully managed by temporary tracheotomy followed by reinnervation of the larynx, with eventual extubation and satisfactory day-to-day airway. Although only two cases represent an inadequate number to determine a new syndrome, these striking findings in a father and his only offspring suggest the possibility that this may, indeed, represent a new symptom complex of congenital origin.
D000293:Adolescent; D001763:Blepharoptosis / Q000150:complications / Q000151:congenital* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012009:Recurrent Laryngeal Nerve; D013577:Syndrome; D014140:Tracheotomy; D014826:Vocal Cord Paralysis / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000628:therapy