Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome

Loy, Kelsey A.; Lam, Austin S.; Otjen, Jeffrey P.; Dahl, John P.

doi:10.1016/j.ijporl.2020.110321

Cited by 4 publications

(3 citation statements)

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“…The modality is considered to have significant advantages as it is non-invasive, has reduced risk of ionising radiation, as well as lower cost and greater portability. 12 Tracheostomy can be beneficial to patients with TCS, especially to patients with craniosynostosis syndrome with upper airway obstruction. Tracheostomy also allows better bronchial toileting of the abnormal tracheal column.…”

Section: Case Reportmentioning

confidence: 99%

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

et al. 2021

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Pfeiffer syndrome is a rare inherited craniofacial disorder. Upper airway obstruction is common among patients with Pfeiffer syndrome due to craniosynostosis. They may also present with lower respiratory tract obstruction due to a rare congenital airway malformation called tracheal cartilaginous sleeve (TCS). We report the case of a patient with Pfeiffer syndrome who presented with recurrent bronchopneumonia, discovered incidentally to have TCS via direct visualisation during tracheostomy. Relevant literature for this rare clinical condition are reviewed and discussed. Clinicians should be aware of TCS when encountering patients with craniosynostosis who present with recurrent lower respiratory tract infections. Careful and meticulous investigations should be performed to look for TCS, especially in patients with craniosynostosis.

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Section: Case Reportmentioning

confidence: 99%

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

et al. 2021

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“…Recently, ultrasonography has been proposed as a cost-effective, noninvasive method for TCS diagnosis. 7,8 Potential challenges include limited access to distal thoracic trachea, instrumenting short and/or kyphotic necks and presence of tracheostomy tubes resulting in limited viewable windows. Nevertheless, ultrasonography has the potential to yield a diagnosis of TCS without need for general anesthesia.…”

Section: Introductionmentioning

confidence: 99%

“…Traditional imaging modalities such as computerized tomography (CT) and magnetic resonance imaging (MRI) are limited in diagnostic value given inadequate evaluation of cartilage. Recently, ultrasonography has been proposed as a cost‐effective, non‐invasive method for TCS diagnosis 7,8 . Potential challenges include limited access to distal thoracic trachea, instrumenting short and/or kyphotic necks and presence of tracheostomy tubes resulting in limited viewable windows.…”

Section: Introductionmentioning

confidence: 99%

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves

et al. 2021

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Objectives/Hypothesis A tracheal cartilaginous sleeve (TCS) is a rare anomaly characterized by anterior fusion of tracheal cartilages. TCS is associated with syndromic craniosynostoses including Apert, Crouzon and Pfeiffer syndromes and FGFR2, FGFR3, and TWIST1 variants. This study presents a 30‐year review of patients with syndromic craniosynostosis and TCS and describes diagnostic methods, genetic variants, surgical interventions, and long‐term outcomes. Study Design Retrospective, single‐institution review. Methods This review included patients with syndromic craniosynostosis and TCS treated at Seattle Children's Hospital from 1990 to 2020. Tracheostomy, genetic variants, and additional surgery were primary measures. Fisher's exact test compared need for tracheostomy in patients with proposed high‐risk (FGFR2 p.W290 or FGFR2 p.C342) versus low‐risk genetic variants. Results Thirty patients with TCS were identified. Average age at diagnosis was 12 months (range 2‐weeks to 7.9‐years; standard deviation 19.8 months). Syndromes included Pfeiffer (37%), Apert (37%), and Crouzon (26%). Severe obstructive sleep apnea was present in 76% of patients. Tracheostomy was performed in 17 patients (57%); five were successfully decannulated. Additional interventions included adenotonsillectomy (57%), nasal (20%), laryngeal (17%), and craniofacial skeletal surgery (87%). All patients with Pfeiffer syndrome and FGFR2 p.W290C variants and 83% of patients with FGFR2 p.C342 variants required tracheostomy, differing from other variants (P = .02, odds ratio 33, 95% confidence interval 1.56–697.96). One patient (3%) died. Conclusion TCS contributes to multilevel airway obstruction in patients with syndromic craniosynostosis. Genetic testing in patients with FGFR2‐related syndromic craniosynostoses may identify those at risk of TCS and facilitate early intervention. A better understanding of this patient population may foster individualized airway management strategies and improve outcomes. Level of Evidence 4 Laryngoscope, 132:215–221, 2022

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Pediatric Airway Surgery: Advances in Evaluation and Endoscopic Management

Hartnick

2021

Curr Otorhinolaryngol Rep

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Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome

Cited by 4 publications

References 5 publications

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

Tracheal cartilaginous sleeve in Pfeiffer syndrome: lesson learnt from its rarity

Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves

Pediatric Airway Surgery: Advances in Evaluation and Endoscopic Management

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