Bilateral Choanal Atresia in a 42-year-old Patient: A Rare Condition Case Report.

Choanal atresia is an uncommon condition with an incidence of 1:5,000-8,000 live births, affecting females more frequently and often associated with other malformations. This case report presents a 42-year-old female patient who was born with bilateral choanal atresia and intervened surgically for the first time at birth. However, the formed orifice was reobstructed a few months afterward, necessitating reoperation in adulthood. The purpose of this case report is to describe bilateral choanal atresia in detail, including its clinical presentation, epidemiology, diagnosis, pathogenesis, and therapeutic approach. It aims to enhance understanding of this rare but significant condition.

Neonatal Nasal Obstruction: A Comprehensive Analysis of Our 20 Years' Experience.

Neonates are obligatory nasal breathers hence nasal obstruction is a very important symptom to be evaluated. Although causes can be trivial most of the time, they can be life-threatening in some. Respiratory distress immediately after birth, feeding difficulties, paradoxical cyanosis, and failure to thrive are the most evident symptoms, and determination of unilateral or bilateral involvement guides the rationale for elective or emergency intervention. This study aimed to evaluate the causes, presentation, and management of neonates with nasal obstruction. We collected the data of all the neonates evaluated for nasal obstruction at our hospital over the past 20 years from June 2003 to May 2023 and assessed the strategy of approach for diagnosis and management of those cases. In our study, the commonest cause for neonatal nasal obstruction was found to be choanal atresia and the rarest was iatrogenic. A variety of other causes were also reported. As neonatal nasal obstruction has a multitude of rare causes each carries a unique assessment and treatment plan. History taking and clinical examination are the most important parts of evaluation including endoscopic evaluation in an office-based setup. Imaging studies add to the evaluation of cases of anatomical obstructions and associated anomalies (syndromes). Early diagnosis and swift intervention can be life-saving. The need for follow-up visits and second-stage corrections should be emphasized in getting the best long-term results.

Unilateral Choanal Atresia in a Child With Prolonged Nasal Congestion.

Choanal atresia obstructs the nasal passage due to abnormal bony or soft tissue remnants owing to the faulty canalization of the nasal passages during fetal development. The clinical manifestations are more pronounced in bilateral cases, often presenting immediately after birth with cyanosis turning pink when crying, as newborns are obligatory nasal breathers. This contrasts in unilateral cases, where the condition may present with mild symptoms and be diagnosed later in life. We present a case of a five-year-old male who initially presented with a concern for nasal polyps due to nasal congestion with absent airflow out of the right nostril. On examination of the pharynx and nose, the patient was diagnosed with nasal turbinate hypertrophy, the right more than the left, and was subsequently scheduled for bilateral inferior turbinate reduction, possible adenoidectomy, and nasal endoscopy. Intraoperatively, inspection with nasal endoscopy along with the inability to pass a catheter through the nasopharynx to reach the oropharynx was our indicator of a more severe diagnosis. Here, we report an incidental finding of the right choanal atresia and seek to highlight its importance given this incidental finding.

[Choanoplasty in children of the first year of life: new opportunities and rehabilitation without stents]. / Khoanoplastika u detei pervogo goda zhizni: novye vozmozhnosti i reabilitatsiya bez stentov.

The article presents literature and our own data on surgical treatment and options for solving the problem of restenosis for congenital choanal atresia in children under one year of age. A new stentless choanoplasty technique using fibrin glue for fixation of posterior septal flaps is presented. This method has patent No. 2789967 dated February 14, 2023. OBJECTIVE: Evaluation of the effectiveness of the choanoplasty method using fibrin glue for fixation of flaps without the use of a stent in children of the first year of life with choanal atresia. MATERIAL AND METHODS: For the period from 2019 to 2023, a team of authors in the Department of Otorhinolaryngology of the Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery operated on 34 patients under the age of one year with a diagnosis of choanal atresia using this choanoplasty technique. RESULTS: The results of this new surgical technique using fibrin glue are presented. Endoscopy of the nasal cavity and choanal area in all 34 patients during follow-up (from 1 to 2 years) showed no signs of restenosis. CONCLUSION: The proposed method of choanoplasty without the use of stents with fixation of mucosal flaps with fibrin glue has proven itself well and can be used in children at any age, can be one of the ways to solve the problem of restenosis and seems to us to be the method of choice in the treatment of choanal atresia.

Congenital choanal atresia where the atretic wall thickened while waiting for an elective surgery.

INTRODUCTION AND IMPORTANCE: Although bilateral congenital choanal atresia (CCA) requires early intervention to open closure walls for safe breathing, it is desirable to be withheld until an infant acquires surgical and anesthetic tolerance. Here we introduce an infant of CCA whose closure wall had thickened during a waiting period for an elective surgery. CASE PRESENTATION: The choana of the patient could not be identified by intranasal fiberscopy and the bilateral CCA was found by CT scan on day 17 after birth. Since he could breathe orally without distress, surgery was withheld until he acquires the tolerance. At nine weeks old, however, CT image detected thickening of the closure wall. At 10 weeks old, he underwent scheduled surgery in which the bilateral closure walls were removed together with attached posterior part of the nasal septum under endoscopic endonasal approach. The patient became able to breath nasally and the choana remained open without restenosis at 3 years after surgery. CLINICAL DISCUSSION: This is the first CCA case reporting closure walls thickened during a waiting period for an elective surgery. Although waiting for surgery was systemically safer by growth, the surgery became more invasive to prevention from restenosis. CONCLUSIONS: This case suggests that we must decide appropriate timing of surgery in an infant, considering dilemma between systemic safety ensuring and lesion aggravation by waiting for surgery.

A Modified Single-Stage Endoscopic Repair for Bilateral Choanal Atresia.

The work illustrates a step-by-step surgical approach to demonstrate technical feasibility of a single-stage endoscopic repair for bilateral choanal atresia with adjuvant bioabsorbable steroid-eluting stent placement to safely mitigate unique perioperative challenges in the pediatric population. Laryngoscope, 2024.

Prevalence and descriptive epidemiology of choanal atresia and stenosis in Texas, 1999-2018.

Choanal atresia and stenosis are common causes of congenital nasal obstruction, but their epidemiology is poorly understood. Compared to bilateral choanal atresia/stenosis, unilateral choanal atresia/stenosis is generally diagnosed later and might be under-ascertained in birth defect registries. Data from the population-based Texas Birth Defects Registry and Texas vital records, 1999-2018, were used to assess the prevalence of choanal atresia/stenosis. Poisson regression models were used to evaluate associations with infant and maternal characteristics in two analytic groups: isolated choanal atresia/stenosis (n = 286) and isolated, bilateral choanal atresia/stenosis (n = 105). The overall prevalence of choanal atresia/stenosis was 0.92/10,000, and the prevalence of isolated choanal atresia/stenosis was 0.37/10,000 livebirths. Variables associated with choanal atresia/stenosis in one or both analytic groups included infant sex, pregnancy plurality, maternal race/ethnicity, maternal age, and maternal residence on the Texas-Mexico border. In general, adjusted prevalence ratios estimated from the two analytic groups were in the same direction but tended to be stronger in the analyses restricted to isolated, bilateral defects. Epidemiologic studies of isolated choanal atresia/stenosis should consider focusing on cases with bilateral defects, and prioritizing analyses of environmental, social, and structural factors that could account for the association with maternal residence on the Texas-Mexico border.

Management of pediatric choanal atresia restenosis and subglottic stenosis using steroid-eluting stents.

OBJECTIVES: To depict the novel use of steroid-eluting stents in the treatment of choanal atresia (CA) restenosis and subglottic stenosis (SGS). METHODS: A retrospective chart review of three pediatric patients, one with CA and two with SGS, treated with mometasone furoate eluting mini stents (PROPEL) was performed. Patients were evaluated for restenosis and adverse events between one to twelve months postoperatively. RESULTS: Postoperatively, patient one with CA showed no signs of restenosis and required no further intervention. Patient two with SGS demonstrated an open subglottic lumen with no signs of restenosis as well as improved phonation following his planned serial procedures. Post-operatively, patient three with SGS exhibited no restenosis of the subglottic lumen, tolerated intermittent tracheostomy capping, and demonstrated improved phonation. CONCLUSION: In this case series, we outline successful treatments for the management of CA restenosis and SGS with mometasone furoate-eluting stents. To our knowledge, this is the first reported application of this treatment in pediatric patients with CA restenosis and the second reported application in pediatric patients with SGS.

Antenatal ultrasound findings in choanal atresia: A case report and review of the literature.

Choanal atresia occurs in about 1 in 5000 births and is associated with other structural and genetic abnormalities. Choanal atresia is usually diagnosed postnatally due to respiratory distress, and rarely diagnosed antenatally. Here, a woman with severe polyhydramnios is described, whose fetus was diagnosed antenatally with isolated bilateral choanal atresia, as evident by persistent absence of flow through the nostrils on ultrasound. A literature review is presented of the antenatal findings of choanal atresia, using ultrasound and other imaging modalities. An association of choanal atresia with polyhydramnios should be considered. Examining flow through the fetal nose, using color Doppler, might aid in diagnosing choanal atresia. If this condition is suspected, a detailed ultrasound scan should be done to rule out other anomalies. Fetal magnetic resonance imaging has been suggested as an additional imaging tool in selected patients. Genetic counselling and invasive prenatal testing should be offered.

Can a second look improve the outcome of endoscopic choanal atresia repair?

PURPOSE: To evaluate the outcome of a routine postoperative endoscopic micro-debridement of granulation tissue after stentless transnasal endoscopic repair of choanal atresia (CA). METHODS: This prospective case series included congenital CA patients who underwent stentless transnasal endoscopic repair, followed by an endoscopic second look and micro-debridement of granulation tissue at 1-2 weeks post-repair. Patients were followed every three months for assessment of nasal airway symptoms and objective evaluation by flexible nasolaryngoscopy. RESULTS: Sixteen CA patients (8 bilateral and 8 unilateral) underwent surgical repair (12 primary and 4 revisions). The median  age was 13 days (range 1 day-6 months) in bilateral and 3 years  (range 7 months-15 years) in unilateral atresia. The mean follow-up was 1.5 years (range 1 year-3 years). In primary procedures, the obstruction was bony-membranous in 7 cases and bony in 5 cases. The mean interval time between the CA repair and re-examination was 10.75 days (range 6-18 days). Clinically significant neochoanal restenosis was not encountered. CONCLUSIONS: Re-examination under general anesthesia with endoscopic micro-debridement of granulation tissue is a safe, potentially effective adjunct when done during the proliferative phase of neochoanal wound healing. This procedure might help in maintaining neochoanal patency by remodeling tissue healing process. Large-scale, long-term cohort studies are imperative.

Beyond the Blockage: Unveiling Diagnosis and Management of Choanal Atresia-A Case Series.

Choanal atresia is a rare congenital disorder characterised by anatomical closure of the posterior choana in the nasal cavity due to failed recanalization during foetal development. The main aim of our study is to focus on our experience with choanal atresia and its management. In this study, we are discussing the prospective study of 12 cases of choanal atresia that came to a tertiary hospital from July 2017 to July 2022. All 12 choanal atresia cases underwent thorough evaluation, including history, blood investigations, nasal endoscopy, and CT scanning. Intra-nasal endoscopic choanoplasty with stenting was performed on all patients, followed by a 2-year follow-up, except for one case that missed follow-up after 6 months. All 12 cases were female, with their ages varying from newborn to 4 months old. In our study, 75% were unilateral and 25% were bilateral cases from newborn to 4 months old. The right was more prevalent in unilateral choanal atresia. The mixed type was the most commonly observed. The most common symptom was difficulty breathing and a running nose. All cases achieved an adequate patent airway. No intraoperative complications were noted in any case. All cases of choanal atresia can be diagnosed by a cold spatula test, failure to pass an intra-nasal catheter, and a CT scan is confirmatory. Surgical correction with endoscopic intranasal choanoplasty and stenting has less morbidity, a high success rate, and a lower recurrence rate.

Congenital Nasal Pyriform Aperture Stenosis.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal stridor and airway obstruction. In this case report we present management of congenital CNPAS in an eight day old female child. Inability to pass nasogastric tube (of size 5Fr) raised suspicion of choanal atresia or pyriform aperture (PA) stenosis (PAS). Computed tomography scan of the paranasal sinuses is the investigation of choice. Transnasal endoscopic dilatation and stenting with ngt of 8Fr under general anaesthesia was done. In this case report we discuss the aetiology, presenting symptoms, diagnostic methods and treatment modalities for CNPAS.

Bilateral Membranous Choanal Atresia Without Associated Other Congenital Anomalies in a 16-Year-Old Female Patient: Case Report.

Congenital abnormality of the nasal cavities called choanal atresia is characterized by a loss of patency at the posterior extremities of one or both nasal canals. It is the most frequent congenital nasal cavity abnormality. A third of cases with choanal atresia occur bilaterally, and due to respiratory difficulty in the newborn period, it is almost always diagnosed. Bilateral choanal atresia has rarely been identified in adults and is very uncommon. We describe the case of an adolescent girl who suffered from bilateral choanal atresia after presenting with persistent nasal congestion, snoring, and an inability to breathe through her nose. To restore the choanal patency, she underwent bilateral transnasal endoscopic choanoplasty.

Current Management of Congenital Choanal Atresia: Litteratur Review.

Background: Congenital Choanal Artesia (CCA) is a rare cause of upper airway obstruction, yet it is the most common congenital anomaly of the nose. While the unilateral condition could be undiagnosed, bilateral CCA may be life-threatening, especially for newborns. Some CCA may be associated with other congenital abnormalities, which leads to a systematic screening during the diagnostic assessment. The diagnosis is easy. However, surgical management is still controversial. Methods: We conducted a retrospective study gathering data on management of CCA over 42 months. We reported epidemiological aspects and results of our series, and discussed management issues. Results: We operated 22 choanae using the endoscopic technique. The age of bilateral CCA patients on the day of surgery ranged from 8 to 21 days (mean 11.7+/_ 2.6 days). Their birth weight ranged from 2.9 to 4.5 kg (mean 3.4 +/_ 0.5 kg), and their gestational age ranged from 30 to 41 weeks. Surgery duration for neonatal bilateral CCA repair ranged from 75 to 110 min (mean 90 min +/_ 11.5 min). We performed an exclusive endonasal endoscopic approach for all patients with no stenting or mitomycin C application. We deplore one post operative complication related to minor palatal perforation resolved spontaneously. Conclusion: Since newborns solely depend on nasal breathing during the first month of life, bilateral CCA is an emergency. Endonasal endoscopic management is the primary procedure. Currently, surgery steps are standardized. However, how to prevent post-operative synechiae and restenosis is still controversial. The mainstream is meticulous post-operative nursing with frequent endonasal saline irrigation, regular removal of crust, and prevention of inflammation due to reflux or infection.

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.

Objective: We aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Methods: We performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features. Results: WES allowed us to identify a previously unreported de novo splice site variant, c.1429-1G>T (NM_032682.6), in the FOXP1 gene (OMIM*605515) as the causative event underlying the phenotype. Clinical reassessment of the patient and revision of the literature allowed us to refine the phenotype associated with FOXP1 haploinsufficiency, including hyperkinetic movement disorder and flat angiomas as associated features. Interestingly, the patient also has an asymmetric face and choanal atresia and a novel de novo variant of the CHD7 gene. Conclusion: We suggest that FOXP1-related ID syndrome may also predispose to the development of hyperkinetic movement disorders and flat angiomas. These features could therefore require specific management of this condition.

Jak2 and Jaw Muscles Are Required for Buccopharyngeal Membrane Perforation during Mouth Development.

The mouth is a central feature of our face, without which we could not eat, breathe, or communicate. A critical and early event in mouth formation is the creation of a "hole" which connects the digestive system and the external environment. This hole, which has also been called the primary or embryonic mouth in vertebrates, is initially covered by a 1-2 cell layer thick structure called the buccopharyngeal membrane. When the buccopharyngeal membrane does not rupture, it impairs early mouth functions and may also lead to further craniofacial malformations. Using a chemical screen in an animal model (Xenopus laevis) and genetic data from humans, we determined that Janus kinase 2 (Jak2) has a role in buccopharyngeal membrane rupture. We have determined that decreased Jak2 function, using antisense morpholinos or a pharmacological antagonist, caused a persistent buccopharyngeal membrane as well as the loss of jaw muscles. Surprisingly, we observed that the jaw muscle compartments were connected to the oral epithelium that is continuous with the buccopharyngeal membrane. Severing such connections resulted in buccopharyngeal membrane buckling and persistence. We also noted puncta accumulation of F-actin, an indicator of tension, in the buccopharyngeal membrane during perforation. Taken together, the data has led us to a hypothesis that muscles are required to exert tension across the buccopharyngeal membrane, and such tension is necessary for its perforation.

Practical Tips for Surgical Management of Bilateral Choanal Atresia.

Choanal atresia refers to congenital blockage of posterior choana of nose by the presence of a bony or membranous soft tissue. It causes respiratory distress in newborn which requires emergency surgical intervention. Various surgical methods are available for correction of choanal atresia and endoscopic approach is the commonly used one. However there is risk of re-stenosis after surgery. This article focuses on surgical refinements to improve the surgical outcome. It is a retrospective study done on eight newborns with bilateral congenital choanalatresia. Data included gestational age, any ante-natal issues, breathing activity at birth, diagnostic tests for choanal atresia and Head to Foot examination findings. Initial diagnostic work up included CT scan of paranasal sinus and Echocardiography to rule out associated cardiac anomalies. All the newborns were treated initially in NICU with ventilator support and then taken up for endoscopic correction of atresia. After surgery, newborns were successfully weaned off from ventilator. Among the 8 newborns, there were 5 males and 3 females and their gestational age was full term. (except in one). Initial presentation included respiratory distress on day 1 of life with difficulty in inserting feeding tube through the nose. Imaging showed bilateral atresia in 7 newborns and unilateral atresia in one newborn. 5 of them underwent atresia surgery using endoscopic approach. One newborn required revision surgery. Remaining newborns remained symptom free during the follow up period. Currently endoscopic approach remains a safer method for correction of choanal atresia with very minimal chance of re-stenosis. Surgical refinements like adequate widening of neo-choana and usage of mucosal flaps to cover the raw area has been found to improve the surgical outcome.

Bilateral choanal atresia diagnosed in a 3-month-old female baby: a case report.

Bilateral choanal atresia is a congenital anomaly where a newborn baby is born with bilateral imperforate posterior nares. In most cases, the diagnosis is established immediately after birth due to respiratory distress since newborn babies are obligate nasal breathers till 6 weeks of life. Establishing the diagnosis requires a high index of suspicion as it is characterized by paradoxical cyclical cyanosis. Delayed diagnosis of bilateral choanal atresia is a rare encounter in clinical practice. We are hereby reporting a 3-month-old baby with bilateral choanal atresia, and perhaps it is the third latest diagnosed case of bilateral choanal atresia in Tanzania. Case Presentation: We present a 3-month-old female baby who was attended to at our department with a history of difficulty in breathing characterized by bilateral nasal obstruction since birth. The baby was admitted for 3 weeks due to episodes of respiratory distress after birth. She was thereafter discharged from the hospital and attended various hospitals without relief since the baby was managed as a case of adenoid hypertrophy. Clinical Discussion: The patient underwent bilateral transnasal endoscopic choanal atresia release with stenting under general anesthesia in the operating room. Postoperatively, she was kept on a nasal decongestant, a broad-spectrum antibiotic, and an analgesic. Regular suctioning was done during routine follow-up. Conclusion: Clinicians must have a high index of suspicion to establish the diagnosis of bilateral choanal atresia in newborn babies. Immediate surgical perforation of the atretic choanae with or without stenting remains to be the treatment of choice.

Bilateral Choanal Atresia in an Adolescent Female: A Rare Case Report.

Choanal atresia is a rare congenital anomaly of the nasal cavities characterized by lack of patency of the posterior ends of one or both nasal cavities (choanae). It is the most common congenital anomaly of the nasal cavity. Bilateral choanal atresia accounts for a third of the cases and is almost invariably detected in the neonatal age due to respiratory distress. Detection of bilateral choanal atresia in adulthood is extremely rare and has been reported only a few times. We report a case of a teenage girl who was diagnosed with bilateral choanal atresia after presenting with longstanding snoring and intermittent nasal discharge. She was managed with bilateral transnasal endoscopic choanoplasty to restore the choanal patency.

Unilateral choanal atresia and a co-existent long-standing medium-sized ipsilateral rhinolith in a 15-year old boy: Case report and literature review.

INTRODUCTION AND IMPORTANCE: Unilateral choanal atresia is a congenital anomaly where a newborn baby is born with a unilateral imperforate posterior nare. In most of the time the diagnosis may be missed for years after birth. A rhinolith is an entity formed by gradual deposition and coating of different salts of calcium and magnesium over an endogenous or exogenous nidus in the nasal cavity. Coexistence of a rhinolith and choanal atresia is a very rare encounter in clinical practice and to the best of our knowledge this is perhaps the first documented case in Tanzania. CASE PRESENTATION: We present a 15-year old boy who was attended at our department with a longstanding history of left sided non-foul smelling nasal discharge which was noticed first when he was 5 years old but at the age of 13 years, he presented with ipsilateral nose bleeding and episodic foul smelling nasal discharge. He was attended at various peripheral health facilities without relief. CLINICAL DISCUSSION: The patient underwent left sided nasal endoscopy where unilateral choanal atresia and a rhinolith were found. Transnasal endoscopic choanal atresia release and rhinolith removal were done under general anaesthesia in operating room. Postoperatively, he was kept on a nasal decongestant, a broad-spectrum antibiotic, intranasal corticosteroid and an analgesic. CONCLUSION: Clinicians must have a high index of suspicion so as to establish the diagnosis of unilateral choanal atresia in patients with persistent unilateral non-foul smelling discharge and also nasal foreign bodies in those with foul smelling nasal discharge.