Late-diagnosed bilateral congenital choanal atresia in adulthood: a case report

Abstract

Introduction

Choanal atresia is an uncommon congenital anomaly characterized by unilateral or bilateral obstruction of the posterior nasal aperture by bony or mixed bony-membranous tissue [1]. The condition results from persistence of the embryologic nasobuccal (or bucconasal) membrane during the fifth to sixth week of gestation [2]. The prevalence is estimated at approximately 1 in 8000 live births, with a female predominance and bilateral involvement in up to one-third of cases [3].

Bilateral choanal atresia (BCA) typically presents immediately after birth with cyclical cyanosis and respiratory distress, as neonates are obligate nasal breathers for the first months of life [4]. Symptoms improve when crying and worsen during feeding. Therefore, most cases are diagnosed early, often requiring emergent airway stabilization and surgical intervention [1].

Adult presentations of BCA remain exceedingly rare, with only sporadic case reports in the literature [1–7]. When diagnosis is delayed, symptoms may include chronic nasal obstruction, persistent rhinorrhea, oral breathing, sleep-related complaints, and hyposmia [5]. We report a rare case of congenital BCA diagnosed in a 38-year-old woman after decades of progressive upper airway and otologic symptoms.

Case presentation

A 38-year-old woman presented with a 20-year history of chronic bilateral nasal obstruction accompanied by persistent rhinorrhea, posterior nasal drip, and nocturnal cough. She reported longstanding oral breathing both day and night, nocturnal snoring, and markedly diminished olfaction. Exposure to strong odors provoked headaches that responded to analgesics.

She also described chronic left ear discharge beginning in childhood, associated with sensorineural hearing loss, tinnitus, and itching. She had no chronic systemic illnesses and no prior diagnosis explaining her long-standing sinonasal symptoms.

Anterior rhinoscopy and rigid endoscopic evaluation demonstrated bilateral inferior turbinate hypertrophy with mucous secretions in the middle meatus. Attempts to visualize the nasopharynx endoscopically were unsuccessful due to complete posterior obstruction.

A non-contrast CT scan of the head and neck was initially performed to exclude common causes of chronic nasal obstruction in adults, including allergic nasal polyposis and sinonasal masses. At that stage, congenital BCA was not the primary diagnostic consideration given the patient’s age and atypical presentation. To evaluate choanal patency, a 16-French nasogastric tube was introduced through each nasal passage. A firm obstruction was encountered bilaterally. Rigid nasal endoscopy revealed obstruction at the posterior choanae, and flexible fiberoptic evaluation confirmed an apparently solid barrier confirming the diagnosis of congenital BCA as demonstrated in Supplementary Video 1.

Under general anesthesia, bilateral rigid nasal endoscopy was performed. Both bony and membranous components of the atretic plates were resected using endoscopic sinus surgery instruments including curettes. The newly created choanal openings were then dilated, and right-sided maxillary antrostomy was performed to improve drainage.

Endotracheal tubes were placed bilaterally through the reconstructed choanae to maintain patency.

The stents were removed at one week. Re-evaluation with rigid endoscopy demonstrated widely patent airways. At the four-month follow-up visit, the patient remained asymptomatic with no evidence of restenosis. She reported complete resolution of nasal obstruction, rhinorrhea, nocturnal cough, and oral breathing. Olfactory function improved subjectively, and no surgical complications occurred.

Discussion

Choanal atresia results from persistence of the nasobuccal membrane during fetal development, leading to a bony or mixed obstruction of the posterior nasal aperture [2]. Although it represents the most common congenital nasal anomaly, its typical neonatal presentation makes adult diagnosis extremely rare [1–7].

The clinical picture depends on laterality. Unilateral atresia may go unnoticed until adolescence or adulthood, whereas bilateral atresia usually presents at birth with respiratory compromise, cyclical cyanosis, feeding difficulties, and improvement during crying [4]. Delayed presentation into adulthood, as occurred in this patient, is exceptional and has been documented only in isolated reports [1, 3–7].

Several conditions may mimic BCA, including pyriform aperture stenosis, meningoencephalocele, deviated septum, nasal tumors, turbinate hypertrophy, and chronic inflammatory mucosal disease [4]. Imaging and endoscopy are therefore essential for accurate diagnosis.

Late-presenting choanal atresia may be associated with secondary otologic manifestations due to chronic nasopharyngeal obstruction and impaired Eustachian tube function. Prolonged ventilation dysfunction may predispose patients to recurrent or chronic otitis, persistent otorrhea, and subsequent hearing impairment, as observed in our patient. Similar otologic complaints have been reported in delayed presentations, reflecting long-standing alterations in middle ear aeration [1, 6, 7].

The occurrence of headaches triggered by strong odors may be related to abnormal nasal airflow dynamics and chronic mucosal irritation. Long-standing obstruction can lead to heightened trigeminal nerve sensitivity and exaggerated responses to olfactory stimuli, which may explain odor-induced headaches in the absence of primary neurologic disease [1, 5–7].

Endoscopic examination remains the most direct method for evaluating suspected atresia. CT imaging provides detailed gicharacterization of the lesion, including thickness of the atretic plate, vomer enlargement, and narrowing of the nasal cavity, all of which aid surgical planning [4, 5]. This approach is consistent with the diagnostic method used in our patient, where both endoscopic assessments and CT imaging confirmed complete bilateral obstruction.

Several surgical approaches have been described, including transpalatal, transseptal, transnasal, and endoscopic techniques. Contemporary literature favors the transnasal endoscopic method because it provides excellent visualization, causes less trauma, avoids palatal growth interference, and demonstrates lower complication rates with faster recovery [5].

In this case, endoscopic sinus surgery allowed precise resection of both bony and membranous components and effective dilation of the neo-choanae. Stenting remains variably practiced [1, 5, 7].

Studies report high success rates of endoscopic choanoplasty in adults, with low rates of restenosis and favorable long-term outcomes [1–7]. Our patient’s postoperative course aligns with published evidence, showing complete resolution of symptoms and stable patency at four months.

This case contributes to the limited literature on adult-diagnosed congenital BCA. It emphasizes the importance of considering this diagnosis in adults presenting with chronic nasal obstruction, particularly when symptoms are lifelong and associated with secondary manifestations such as oral breathing, recurrent sinonasal infections, and otologic complications.

Conclusion

This rare case of congenital BCA diagnosed in adulthood underscores the need to maintain awareness of this condition in adults with long-standing nasal obstruction. Endoscopic choanal reconstruction provided excellent functional results, with complete symptom resolution and sustained choanal patency at four months postoperatively. The case adds to the small but growing body of literature confirming that endoscopic repair is safe, effective, and durable even when performed decades after birth.

Methods

This work has been reported in line with the SCARE criteria [8].

Author contributions

Fares Abboud is the first author and the corresponding author: contributed to conceptualization, investigation, original draft, editing, reviewing & bibliography. Sultaneh Haddad: contributed to original draft, editing & reviewing. Ghadeer Ibrahim: contributed to original draft, editing & reviewing. Mohammad Alnsour: contributed to original draft, editing & reviewing. Judy Abdelrahim: contributed to original draft, editing & reviewing. Natali AlZaghloul: contributed to original draft, editing & reviewing.

Highlights

• Rare adult presentation of congenital bilateral choanal atresia, typically diagnosed in neonates.

• Endoscopic resection restored full choanal patency, confirmed by postoperative endoscopy.

• Highlights the need to consider congenital causes in adults with lifelong nasal obstruction.

Conflicts of interest

The authors declare no conflict of interest.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Data availability

All necessary details are available in the article. Further inquiries can be directed to the corresponding author.

Ethics statement

Ethics clearance was not required by our institution for the study as it involves a case report adhering to evidence-based medicine principles, with approval obtained locally from the department of ENT.

Patient consent

Written informed consent was obtained from the patient for publication of the case and any accompanying images/videos. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

References