Rare Diseases Symptoms Automatic Extraction

Use of Imaging to Evaluate Course of the Carotid Artery in Surgery for Velopharyngeal Insufficiency.

[22q11.2 deletion syndrome]

This study aimed to describe syndromes where preoperative imaging may be essential in determining the course of the carotid arteries before velopharyngeal insufficiency (VPI) surgery and therefore affect surgical planning.Records of children who underwent surgery for VPI between May 1, 2012, and October 30, 2013, at a tertiary care pediatric otolaryngology center were reviewed. Data collected included age at operation, preoperative and postoperative nasometry values, presence of underlying genetic disorders, and imaging findings.Twenty-five patients underwent 33 surgeries for VPI, with 1 posterior pharyngeal wall augmentation, 6 Furlow palatoplasties, 11 sphincter pharyngoplasties, and 15 pharyngeal flaps. Medialized carotid vasculature was identified in 5 of 25 patients (20%). Seven syndromic patients were identified, with 3 patients having 22q11.2 deletion syndrome. All patients (100%) with 22q11.2 deletion syndrome had medialized carotid arteries. Of the 4 additional syndromic children, 2 (50%) had medial internal carotid arteries, with 1 patient diagnosed with neurofibromatosis 1 and another with Prader-Willi syndrome. Both patients underwent Furlow palatoplasty.Whereas 22q11.2 deletion syndrome is recognized as an entity where a medial carotid is often present, other syndromic children may also demonstrate vascular variability. Although a larger study is needed to confirm an increased prevalence in these patients, clinicians may need a higher degree of suspicion while performing the physical examination. If examination findings are suggestive or the disease process may lend itself to this abnormality, vascular imaging can be considered as part of presurgical planning to help guide surgical technique and prevent complications.

Diseases presenting "posterior pharyngeal wall augmentation" symptom

  • 22q11.2 deletion syndrome

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