Abstract
Introduction
Post-operative morbidity is common (36%) in patients with Down Syndrome (DS) requiring surgical spine intervention. Underlying anatomical factors such as midface hypoplasia, shorter palates and hypotonia are also contributory. However, there are no reported cases on velopharyngeal insufficiency (VPI) following trans-nasal endoscopic odontoid resection and reconstruction.
Case Presentation
A 6-year old girl with Down Syndrome (DS) underwent an occipitocervical fusion for atlantoaxial instability and cervical stenosis. Post-operative complications and hardware failure necessitated a revision occipitocervical fusion with extension to the C6 vertebral level. Subsequently, the child presented with symptoms consistent with velopharyngeal insufficiency (VPI), including hypernasal speech and a decline in conversation skills. Speech examination confirmed weak oral airflow and poor articulation of phrases. A video nasopharyngeal endoscopy (VNE) demonstrated coronal pattern of movement was seen with lateral wall motion, and incomplete approximation of the posterior pharyngeal wall, consistent with the diagnosis. The child was managed consistently with dedicated speech therapy. Despite an initial decline of 50-60% in spoken skills, consistent subjective and objective spontaneous improvement was seen with speech rehabilitation.
Conclusion
This case highlights the development of VPI due to extensive spinal intervention. However, dedicated rehabilitation endeavors with speech therapy were instrumental in mitigating the symptoms of this patient.
Introduction
Velopharyngeal insufficiency (VPI) is a structural disorder characterized by an inability to achieve complete closure of the velopharyngeal valve during speech, resulting in hypernasality and nasal air emission. VPI may occur secondary to anatomical defects, neurological disorders, faulty learning, or in association with pediatric syndromes. 1 Patients with Down Syndrome (DS) may be particularly susceptible due to underlying midface hypoplasia, congenital hypotonia and enlarged adenoids, which can compromise velopharyngeal function. 2 In addition to craniofacial syndromic features, children with DS frequently present with cervical spine abnormalities, including atlantoaxial instability and os odontoideum, often necessitating surgical intervention. In fact, 6% of symptomatic DS patients with cervical spine instability undergo surgery. 36% of these patients experience post-operative complications, and there is a 3% risk of mortality associated with such interventions in DS patients. 3
Although, previous literature has extensively discussed the development of VPI following routine pediatric procedures including cleft palate repairs and adenotonsillectomies in patients with DS, there are currently no known reports on VPI following endoscopic spinal procedures. Therefore, to the best of our knowledge, this is the first reported case on a child with DS developing VPI as a postoperative complication of endoscopic endonasal odontoidectomy and craniocervical fusion.
Case Presentation
History of Spinal Surgery
A 6-year-old white female with a BMI of 14.9 kg/m2 presented with 2 episodes of ground level falls and lower limb weakness. Her medical history was significant for Down Syndromw (DS), congenital hypotonia, developmental delay, and hypothyroidism managed with levothyroxine. Surgical history was significant for adenotonsillectomy.
A cervical spine x-ray revealed atlantoaxial subluxation. CT/MRI confirmed severe C1-2 stenosis, myelopathy at the C1 level due to os odontoideum and basilar invagination of the dens. In view of these concerns, in December 2024, the patient underwent an occipitocervical fusion (C2 fusion with rib grafting) and decompression at the C1 level.
However, a 6-months postoperative MRI cervical spine revealed persistent basilar invagination and brainstem kinking, along with worsening canal stenosis. Imaging also confirmed anterior displacement of C1 and loosening of C2 screws. These findings were alarming for posterior hardware failure and pseudoarthrosis. In June 2025, the patient underwent a multidisciplinary surgery with otolaryngology and neurosurgery performing an anterior endoscopic endonasal odontoidectomy and revision occipitocervical fusion with extension to the C6 vertebral level (Figure 1A). After endoscopic exposure, the anterior arch of the C1 was drilled for access to the odontoid. The anterior portion of C2 was excised followed by complete resection of the odontoid process to relieve anterior compression on the spine. Since odontoid resection creates spinal instability, the procedure was followed by a posterior spinal fusion, whereby the occiput and C1-6 bones were decorticated, and a rib graft was secured with titanium screws. Schematic highlighting the timeline of velopharyngeal insufficiency (VPI) in a 6-year old girl with underwent spinal procedures (A). A widened nasopharynx, and no adenoid tissues is visualized as evidence of VPI before recovery; evidence of a drilled approach to the clivus is seen (B). Significant velar gap on showing maximum effort closure highlighting VPI before recovery (C)
Development of Velopharyngeal Insufficiency (VPI)
Perceptual Speech Evaluation Results
Video naso-endoscopy (VNE) revealed symmetric but limited elevation and retraction of the velum on “ah”, “ae” and “pah” sounds. Coronal pattern of movement was seen with lateral wall motion, and an incomplete closure of the posterior pharyngeal wall. Additionally, nasal view demonstrated incomplete closure on non-nasal phonemes. The exam confirmed that velopharyngeal closure was insufficient for speech production.
Role of Speech Therapy in Long Term Management
A VP MRI performed in December 2025, 6 months post-VPI onset, demonstrated no remaining structural defects in the velopharynx with her VPI now resolved. An appropriate velar length of 25.5 mm was seen at rest, no velopharyngeal port gap was visualized on/i/and/s/phonations and the levator veli palatini muscle was cohesive. The patient’s SLP perceptual re-evaluation indicated spontaneous improvement to hypernasality with only occasional, phoneme specific nasal air emission on voiceless alveolar fricatives (Table 1). Since the patient indicated subjective improvement in speech and communication skills, her long term management included intensive speech therapy, 3 times weekly, with emphasis on oral airflow and placement of lip, teeth and tongue
Discussion
In this case, we discussed the development of VPI as a possible postoperative complication of trans-nasal endoscopic odontoid resection and reconstruction in a pediatric patient with DS. Previous literature imply that any nature of oro- or naso-pharyngeal manipulation can alter pharyngeal or velopharyngeal anatomy and exacerbate the risk of VPI 4 ; large scale systematic studies address common etiologies of VPI and have concluded a 17.5% incidence of VPI post cleft palate repair. Similarly, transient VPI is observed after routine pediatric procedures, such as adenoidectomies.4,5 As patients with DS have a higher likelihood of developing obstructive sleep apnea (OSA) secondary to adenotonsillar hypertrophy, 6 that in itself increases the probability of surgical intervention and subsequent VPI. 7 Although, literature addresses traumatic or iatrogenic etiologies of VPI, these cases are largely due to neurovascular compromise and resultant nerve dysfunction in adult cohorts. 8 As such, no prior cases of spine manipulation have been reported in association with structural or anatomical widening of the velopharyngeal opening.
Additionally, the risk of VPI in patients with DS may be of particular concern due to predisposing anatomical factors such as midface hypoplasia, congenital hypotonia, shorter palate and a posteriorly displaced pharyngeal wall.2,7 Our patient’s medical history was remarkable for underlying hypotonia and can certainly be an added challenge during rehabilitation. In fact hypotonia is independently associated with VPI in syndromes such as 22q11.2 deletion, neurofibromatosis and Kabuki syndrome.9,10 2% of DS patients with craniocervical junction instability present with signs of cervical myelopathy, such as our patients who had history of falls, necessitating evaluation and surgery. 93% of these patients had posterior (occipitocervical or atlantoaxial) surgical fusion. 3 Therefore, the risk of VPI should be weighed in any manner of cervical manipulation in syndromic patient populations, as likely evidenced in our case.
Literature cautions that preoperative assessment of borderline VPI is imperative in children undergoing surgeries to reduce the risk of overt VPI postoperatively; anatomical factors such as a short soft palate, deep pharynx and cleft palate as well neurological concerns such as facial nerve palsy or cerebral palsy should be considered preoperatively to stratify patients at risk for VPI, 5 which could have been useful in our case. If VPI develops, a multidisciplinary approach is important to optimize recovery,4,9 and management depends largely on the cause of VPI. For example, VPI seen post-adenoidectomies can be managed with watchful waiting as adenoids regrow at a rate of 5.3% per month and bridge the velar gap 11 and less than 1% of patients have significant long-term dysfunction. 12 Interestingly, our case also highlights transient changes in resonance and spontaneous resolution without the need for surgical intervention in the setting of spine surgery. The odontoid resection likely led to scarring and retraction of the posterior pharyngeal wall posteriorly immediately after surgery resulting in a more “scalloped” position, which was making it more difficult for the soft palate to touch during phonation and allow for complete closure. With speech therapy and time, this “scalloped” posterior wall likely filled in with scar tissue and fat which brought it back out to its more natural location and allowed the soft palate to be able to adequately reach it. The VP MRI performed on the patient showed that the velopharynx was able to obtain complete closure 6 months postoperatively.
Conclusion
This study describes postoperative VPI as complication of trans-nasal endoscopic odontoid resection and reconstruction in patient with DS, and resolution with dedicated conservative methods like speech therapy.
Consent for Publication
Written informed consent from the patient’s legally authorized representative was obtained for the patient’s anonymized information to be published in this article.
Footnotes
Ethical Considerations
All procedures performed were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. IRB review was exempt from our institution.
Author Contributions
Funding
The authors received no financial support for the research, authorship, and/or publication of this article.
Declaration of Conflicting Interests
The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Data Availability Statement
Data are available upon request through the corresponding author.