Images Figs. 2 and 4 Figs. 7-8

Ecchordosis physaliphora is a rare hamartomatous lesion of notochord origin that is usually asymptomatic. In this case report, such a lesion arose at the clivus, with extension through to the sphenoid sinus. As a result, it presented with cerebrospinal fluid rhinorhea, making the case particularly unusual. We describe the treatment for this rare situation and discuss its differentiation from chordoma, its malignant counterpart.

Children with syndromic craniosynostosis may present with airway anomalies. We reviewed a cohort of such individuals who underwent tracheostomy at the Great Ormond Street Hospital for Children (London, UK) between 1999 and 2012 from a prospectively collated database. A case note review was undertaken in 11 patients. We evaluated the indication for tracheostomy in these children and the presence of laryngotracheal anomalies. The most common indication for tracheostomy was upper airway obstruction refractory to medical and first-line surgical management. Laryngotracheal anomalies were detected both at diagnostic microlaryngoscopy and bronchoscopy and at the time of tracheostomy. The commonest anomaly was a tracheal cartilaginous sleeve, but we also describe the figure-of-eight trachea that, to the best of our knowledge, has not been described before in this group of patients. A mutation of a fibroblast growth factor gene was found in 71% of our patients with a laryngotracheal anomaly. We present the largest cohort of children with syndromic craniosynostosis and confirmed anatomical anomalies of the airway and uniquely describe the figure-of-eight appearance of the trachea. These findings highlight the importance of thorough airway evaluation and the special care needed in airway management for children with syndromic craniosynostosis.

No abstract