Airway stenting as a salvage procedure in a child with a lethal spondyloepiphyseal dysplasia congenita: 13 years follow-up

We describe the case of a term infant with broad and protruding forehead, micrognathia, wide cleft palate, short neck and stocky body with small thoracic cage, short limbs, bilateral clubfeet and triventricular hydrocephalus. A G313S mutation in the gene for type II-collagen(COL2A1)was demonstrated. Soon after birth, the infant had respiratory distress with repeated obstructive apnea, leading to nasotracheal intubation. Despite mechanical ventilation(MV)with high positive pressure, he showed desaturations, leading to tracheotomy. An endoscopy showed severe tracheo-bronchomalacia. At 5 months a polyflex self-expanding silicone stent was placed in the trachea(10x30, replaced by12x20 and removed after 4 years), with two stainless steel stents in the mainstem bronchi(Palmaz 104right and Palmaz 128left). After 5 years 2 stents were overlapped to the previous in each of the mainstem bronchus(2 Jomed 12-10/12). At 10.5 years a Y Dumon stent(11-7-7) has been placed in the trachea and removed after 2 years. To date he is a 13 year old child, he has a tracheotomy(4.5mm cuffed Shiley with speech valve)and occasionally needs of night ventilatory support. He attends the secondary school with fairly good performance. G313S mutation has been described in a lethal case with respiratory insufficiency at birth, with spondyloepiphyseal dysplasia congenita. In our case, the airway malacia has been promptly treated by stenting with immediate improvement of the airway ventilation. Stenting, although is a palliative treatment given the cage narrowness, has allowed a child who was expected to die at birth, to reach adolescence in good condition and with a certain degree of autonomy.