Chondrodysplasia Punctata and Subglottic Stenosis

Abstract

Chondrodysplasia calcificans punctata (CCP) is a rare congenital syndrome caused by a peroxisomal dysfunction (1). First described in 1914, it leads to an erratic cartilage calcification during growth and results in bone and skin lesions, cataracts, and cardiac malformations. In surviving children, abnormal growth leads to dwarfism, kyphoscoliosis, limb-shortness, and luxation of the hip (1). CCP is classified into four main types: 1) the autosomal dominant Conradi-Hünermann's type, involving long bones asymmetry, spinal and facial malformations, and sometimes cataracts and ichtyosis; 2) the autosomal recessive rhizomelic type, with malformation of the long bones, cataracts, skin lesions, and mental deficiency (often lethal during the first year of life); 3) the X-linked dominant form, lethal for boys (Happle); and 4) the X-linked recessive form, described only in boys (2). The diagnosis relies on a calcified stippling of the hyaline cartilage and bones, which usually disappears at the age of 2 or 3 yr (1). No treatment is available, but many orthopedic procedures are necessary to limit functional repercussions of the disease and to stabilize spinal and limb malformation (1). Whether respiratory tract cartilage is also involved in this disease remains unclear. However, there are several reports of tracheal stenosis in CCP (3–6). We report a case of tracheal stenosis in which the appearance of cricoid seems characteristic of CCP. Case Report A 13-yr-old boy with CCP underwent a total spinal arthrodesis. The patient was mentally retarded, and clinical examination showed dwarfism (approximately 120 cm, 35 kg), an acnea, and thoracic and facial malformations. A slight inspiratory discomfort at rest and digital hippocratism were also noticed. He had already undergone several surgical limb and spine procedures, during which difficult intubations were encountered. Intubation was possible only with the use of smaller tracheal tubes (about one size smaller than expected on a weight basis). Blood tests were satisfactory, but PaO2 was 61 mm Hg (normal range: 69–116 mm Hg), PaCO2 was 53 mm Hg (normal range: 35–45 mm Hg); pHa was within normal range. There were some rare nocturnal hypoxemic episodes (SpO2 < 90%) during continuous pulse oxymetry monitoring, although functional respiratory tests were not feasible. A chest radiograph showed a huge spinal rotation with a 90° right convexity. Cardiothoracic index and cardiac ultrasonography were normal. The motor-evoked potentials were not found at the inferior limbs, while somatosensory-evoked potentials showed normal neuronal conduction at the right leg. During an intubation attempt, laryngoscopy showed an obstacle beyond the glottis, and only the tracheal tube one size smaller than expected could fit (Safety-Flex 6.0 [internal diameter], Mallinckrodt Medical, Athione, Ireland). Anesthetic and surgical procedures continued uneventfully. Postoperatively, three extubation attempts failed, even with betamethasone therapy, while the size of the inserted tracheal tube was getting smaller after every reintubation procedure. A laryngoscopy under anesthesia then showed a large laryngeal edema and a circular subglottic fibrosis, with defined tracheal stenosis. As no proper breathing was possible, a tracheotomy was performed. A computed tomography scan showed a characteristic calcified stippling of a widened cricoid, with edema causing a very narrowed tracheal inlet (Figure 1).Figure 1: Characteristic stippled-cricoid and edema narrowing tracheal lumen on computed tomography scan.After an uneventful postoperative period, the patient returned to his usual specialized-care center. Discussion This tracheal stenosis, while suspected because of the literature (3–6) and previous intubation attempts, was nevertheless surprising because of its severity. The cuffed tube, here used to ensure adequate positive-pressure ventilation in the prone position, probably worsened a preexisting tracheal lesion. One may conclude that this stenosis and fibrosis may be a result of the previous intubation procedures, which were described as difficult. However, the main feature in this case report is the existence of a characteristic lesion of CCP on the cricoid. The calcified stippling on this widened cricoid, which usually disappears after the age of three years, strongly suggests a CCP-related lesion. It remains doubtful that it was responsible for the tracheal stenosis previously described in the literature. The obstacle seemed to be beyond the glottis, but the diagnosis of its exact location, on the trachea or cricoid, remains difficult. The computed tomography scan imaging was beneficial in diagnosing the lesion on the cricoid, characteristic of CCP. Numerous intubation attempts performed during the last perioperative period worsened this patient's respiratory status. Tracheotomy, with its risks, was the only remaining choice. To conclude, CCP can involve a tracheal cartilage lesion during growth, and a tracheal stenosis seems to be its common feature. Knowledge of this is essential for the anesthesiologist caring for these patients, because it may greatly complicate perioperative airway control.