Pädiatrische Rhinologie. / Pädiatrische Rhinologie.

The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.

Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature.

Bosma arhinia microphthalmia syndrome (BAMS) is a rare syndrome consisting of several craniofacial abnormalities, including congenital arhinia. In this case report, the authors present the first case of a patient with BAMS and dacryocystocele who successfully underwent dacryocystectomy. Dacryocystectomy may serve as a viable surgical approach for dacryocystocele in patients with abnormal nasal anatomy. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e16-e18.].

[Clinical Management of Choanal Atresia]. / Klinisches Management der Choanalatresie.

Choanal atresia (CA) is a rare congenital anomaly of the nasal airway with an incidence of 1/5000 to 1/9000, which may occur unilateral (uCA) or bilateral (bCA). bCA manifests as an acute emergency immediately after birth by airway obstruction and paradoxical cyanosis, whereas uCA may present with a heterogeneous clinical picture in addition to unilateral nasal airway obstruction. Fiber endoscopic examination and cranial computed tomography are the gold standard in the diagnosis of CA. CA often occurs in association with congenital malformation syndromes, among which CHARGE syndrome stands out. Due to cardiopulmonary instability and difficult intubation conditions, syndromic CA patients should be considered as a separate risk group. After securing the airway, bCA must be treated surgically without delay, whereas correction of uCA should not be performed until after six months of age. Endoscopic techniques are the surgical standard in the treatment of CA. Different approaches can be distinguished: transnasal puncture of the atresia plate with subsequent extension medially and laterally, creation of a septal window with subsequent resection of the posterior vomer and atresia plate, and elevation of mucoperiosteal flaps with subsequent opening of the atresia plate. The transpalatal approach should only be employed in anatomically complex cases. The use of conventional choanal stents in the primary treatment of CA is increasingly rejected and should be reserved for high-risk constellations. Similarly, local application of mitomycin C should be avoided.

Complete Isolation of Left Innominate Artery in a Patient With CHARGE Syndrome: Case Presentation and Review of Reported Cases.

We report a rare case of complete isolation of the left innominate artery in a child with CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities) syndrome. This anatomical cluster had been undetected for a relatively large period of time and the patient was referred to us with an incomplete diagnosis even after multiple medical evaluations and a thoracic surgery during the neonatal period. In conclusion, to the best of our knowledge, this is the first case of a complete isolation of left innominate artery treated with a transcatheter approach.

Successful Noninvasive Respiratory Management of an Infant with Bilateral Choanal Atresia and a Supernumerary Nostril Located on the Columella by a Mouthpiece: A Case Report.

BACKGROUND Choanal atresia with a supernumerary nostril located on the columella is extremely rare. Infants are obligate nasal breathers because the oral airway is invariably blocked during calm respiration. Infants breathe through the mouth only during crying, and they only have nasal breathing until 5 months of life. Congenital nasal anomalies have been reported to be fatal from birth, requiring tracheal intubation or tracheostomy in the early postnatal period. In these cases, it is crucial to maintain an adequate airway. CASE REPORT A 2948-g female infant was born at 40 weeks by normal vaginal delivery. Her Apgar scores were 9 and 9 at 1 and 5 min, respectively. She had retractive breathing, cyanosis, and a supernumerary nostril at birth. She had no other anomalies. Computed tomography showed bilateral membranous choanal atresia. She needed nasal continuous positive pressure or a high-flow nasal canula for oxygen desaturation during crying, apnea, and dyspnea. However, her respiratory symptoms did not improve completely. On day 25 of life, she was given a mouthpiece to support mouth breathing. Her respiratory symptoms improved gradually, and she was discharged on day 73 of life with a mouthpiece. CONCLUSIONS A very rare case of choanal atresia with a supernumerary nostril located on the columella was described. A mouthpiece was effective for breathing, obviating the need for emergency surgical intervention in the early postnatal period. Emergency procedures were avoided, probably because this case involved incomplete bilateral membranous choanal atresia rather than complete bony atresia.

Atresia de coana unilateral: reporte de un caso pediátrico / Unilateral coana atresia. A pediatric case report

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7 años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinicallypresents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches.A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

[Unilateral coana atresia. A pediatric case report]. / Atresia de coana unilateral: reporte de un caso pediátrico.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinically presents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches. A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

[CHARGE syndrome in children with congenital choanal atresia]. / Sindrom CHARGE u detei s vrozhdennoi atreziei khoan.

One of the most commonly associated genetic syndromes with congenital choanal atresia is CHARGE syndrome, which includes multiple congenital anomalies with variable phenotypic manifestations. The article presents data on the history of the study, prevalence, etiology and clinical criteria of this pathology. OBJECTIVE: To determine the frequency of detection and features of clinical manifestations of CHARGE syndrome in children with congenital choanal atresia. MATERIAL AND METHODS: Based on the literature data and our own research, the features of the clinical manifestations of CHARGE syndrome in children with congenital choanal atresia are presented. RESULTS: The association of malformations, which in most cases had bilateral localization, was detected in 27 (18.8%) patients with congenital choanal atresia. In 20 children, the analysis for the presence of the CHD7 mutation was carried out by sequencing, while CHD7 mutations were detected in 18 (90%) patients meeting the clinical criteria of CHARGE syndrome. The absence of mutations of the CHD7 gene in the remaining patients indicates the genetic heterogeneity of this syndrome. CONCLUSION: The detection of CHARGE syndrome in children with congenital choanal atresia is of great clinical importance, since timely diagnosis and correction of other pathology minimizes the chance of complications during surgical treatment and allows for the formation of individual routing of patients for treatment and rehabilitation. Therefore, the examination and management of children with congenital choanal atresia associated with other malformations should be carried out on the basis of an interdisciplinary approach.

Nasal Obstruction in the Infant.

Neonatal nasal obstruction is common in both the hospital and clinic settings. Causes can range from rhinitis to congenital masses, with a wide variety of congenital nasal masses described. A complete history and physical examination are necessary for correct diagnosis and management. Arhinia and bilateral choanal atresia will present with complete obstruction leading to forced mouth breathing. Partial obstruction will require assessment of nasal patency with possible nasal endoscopy and imaging. Medical and surgical options for treatment are discussed.

Long Term Incidence and Outcomes of Sinonasal and Otologic Disease in Patients With Pyriform Aperture Stenosis and Choanal Atresia.

ABSTRACT: Pyriform aperture stenosis (PAS) and choanal atresia (CA) are 2 anatomic causes of newborn nasal obstruction. The goal of management of PAS and CA is to establish a patent nasal airway, often requiring surgery. No previous study has sought to assess the long term sinonasal and otologic disease incidence and outcomes in the PAS and CA population after surgical intervention. The goal of this study was to investigate whether surgical intervention in PAS and CA is correlated with the long-term development of sinonasal disease or otologic disease (either recurrent acute otitis media or chronic otitis media with effusion). Patients with a diagnosis of PAS or CA who underwent surgical intervention were retrospectively identified. Pertinent demographic risk factors, medical and syndromic diagnoses, number of surgical interventions, types of surgical interventions, and presence of sinonasal and otologic diseases were assessed. Fifty-three patients were included in the study: 8 patients with PAS and 45 with CA. The average follow-up time was 2.9 years. No PAS patients developed otologic or sino-nasal disease. Four of 45 patients with CA developed recurrent acute sinusitis (3 non-syndromic and 1 syndromic) and 19 of 45 patients developed otologic disease (9 non-syndromic and 10 syndromic). Coloboma, Heart, Choanal Atresia, Growth Retardation, Genitourinary, Ear Syndrome and unilateral CA correlated significantly with the subsequent development of otologic disease; however, the number of surgeries did not. This study suggests that surgery for PAS and CA do not increase the risk of long-term development of sinonasal or otologic disease.

Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3-year-old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that was characterized by difficulty in breathing. She was found to be heterozygous for a novel PLCB4 variant, p.Glu358Gly. Respiratory distress is rare in autosomal dominant ARCND2 and choanal stenosis has not been reported. Our study expands the clinical phenotype of ARCND by adding choanal stenosis as a finding and suggests that PLCB4 play a role in the development of choanal structures.

Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.

The developmental disorder Burn-McKeown Syndrome (BMKS) is characterised by choanal atresia and specific craniofacial features. BMKS is caused by biallelic variants in the pre-messenger RNA splicing factor TXNL4A. Most patients have a loss-of-function variant in trans with a 34-base pair (bp) deletion (type 1 Δ34) in the promoter region. Here, we identified two patients with BMKS. One individual has a TXNL4A c.93_94delCC, p.His32Argfs *21 variant combined with a type 1 Δ34 promoter deletion. The other has an intronic TXNL4A splice site variant (c.258-3C>G) and a type 1 Δ34 promoter deletion. We show the c.258-3C>G variant and a previously reported c.258-2A>G variant, cause skipping of the final exon of TXNL4A in a minigene splicing assay. Furthermore, we identify putative transcription factor binding sites within the 56 bp of the TXNL4A promoter affected by the type 1 and type 2 Δ34 and use dual luciferase assays to identify a 22 bp repeated motif essential for TXNL4A expression within this promoter region. We propose that additional variants affecting critical transcription factor binding nucleotides within the 22 bp repeated motif could be relevant to BMKS aetiology. Finally, our data emphasises the need to analyse the non-coding sequence in individuals where a single likely pathogenic coding variant is identified in an autosomal recessive disorder consistent with the clinical presentation.

A national study of choanal atresia in tertiary care centers in Canada - part I: clinical presentation.

BACKGROUND: To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. METHODS: Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. RESULTS: The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. CONCLUSIONS: The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted.

[Features of the architectonics of the structures of the nasal cavity and choanal zone in children with congenital malformations of the eyes]. / Osobennosti arkhitektoniki struktur polosti nosa i khoanal'noi zony u detei s vrozhdennymi porokami razvitiya glaz.

The article provides data on the embryogenesis of the eyeball, nasolacrimal canal and nasal cavity. A frequent combination of congenital choanal atresia and anomalies in the development of the eyes was noted, most likely associated with the temporal and topographic parallelism of the intrauterine development of these anatomical areas. In order to assess the condition of the nasal cavity and choanal region in congenital eye pathology, 43 children with ophthalmological malformations were examined. In 32 (74.4%) children, according to endoscopic examination, changes in the anatomy of the choanal region with a change in its size in the form of incomplete atresia were revealed. The results obtained allow the authors to recommend that all children with congenital ophthalmological malformations be examined and monitored by an otolaryngologist with an endoscopic examination of the nasal cavity and nasopharynx.

[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. / Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS).

The rare clinical picture of nasal agenesis is to be presented on the basis of a female newborn. Intrauterine growth restriction with polyhydramnios and midface hypoplasia were noted during pregnancy. Primary cesarean section at 38 + 4 weeks' gestation was done. Airway management was achieved by splinting through a Mayo tube which was subsequently replaced by a pharyngeal endotracheal tube without signs of respiratory failure. In addition to a complete nasal agenesis, hypertelorism, a Gothic palate, bilateral microphthalmus, and iris coloboma were found. Ultrasound scans of cerebral structures were normal. An orogastric tube was placed, and drinking training and a special pacifier improved coordination and drinking performance. We suspected a case of Bosma arhinia microphthalmia syndrome (BAMS). The structural maintenance of chromosomes flexible hinge domain (SMCHD) containing 1 gene plays a key role in the embryogenesis of the human nose and is known for mutations in BAMS. A heterozygous de novo mutation in the SMCHD1 gene (c.1043A > G; pHis348Arg) was confirmed by molecular genetic analysis. Initial stabilization after birth is often a challenge in patients with nasal agenesis. They are often intubated immediately postpartum and electively tracheotomized. In the absence of respiratory problems and appropriate growth, however, there is no urgent indication for early plastic surgical treatment, given the inherent risks of sepsis and growth disorders in the midface.

Endonasal choanal atresia repair; evaluating the surgical results of 58 cases.

BACKGROUND: Choanal atresia is the most common congenital nasal anomaly, with an incidence of 1:5000-1:8000 live births. Atresia can be seen as membraneous, bony or mixed type. When it is bilateral, it is accepted lifethreatening, therefore bilateral atresia necessitates immediate intervention. Diagnosis is confirmed by endoscopic examination and computed tomography. The absolute treatment is surgical, and different approaches have been proposed. METHODS: Herein, we describe our 15-year experience in the treatment of 58 patients of congenital choanal atresia with transnasal endoscopic approach, and we compare the efficacy of placement of an intranasal stent and applying mitomycin while endoscopic microsurgical repair. RESULTS: The study included 41 female patients (71%) and 17 male patients (29%) with congenital CA. The mean age was 3 years ranging from 10 days to 16 years. The atretic plate was bilateral in 24 patients (41%) and unilateral in 34 (59%). The most common atresia type was the mixed type with 29 patients (50%). A total of 17 patients (29%) required postoperative revision(s). Postoperative revisions were more frequent among patients with bilateral CA (50%), and with mixed CA (31%). Stenting was used additionally by surgical correction for 10 patients. After stenting, fibrosis and restenosis was seen in 7 patients (79%). Mitomycin C was applied peroperatively in 8 patients. Restenosis after mitomycin application was seen in 4 patients (50%). CONCLUSIONS: By our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.

Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome.

BACKGROUND: Bilateral choanal atresia in patients with CHARGE syndrome becomes symptomatic immediately after birth. A prompt diagnosis, the implementation of sufficient preliminary measures, and the delivery of surgical therapy are crucial. This article is intended to assist in terms of diagnostics and a therapy recommendation. METHODS: We performed a retrospective study using the medical records of all newborns in the University Hospital in Bonn, diagnosed with bilateral choanal atresia and CHARGE syndrome and underwent surgery at the Department of Otorhinolaryngology, Head and Neck Surgery. RESULTS: A total of 21 patients have been treated with a unilateral or bilateral choanal atresia. 14 patients were primarily treated with transnasal endoscopy or underwent transnasal endoscopic surgery as a follow-up intervention (73.68%). Nine patients had a syndromal appearance, which was considered a definite diagnosis in six patients (five with CHARGE syndrome). All five patients with CHARGE syndrome received transnasal endoscopic treatment and a stent was inserted. DISCUSSION: Bilateral choanal atresia can be a life-threatening situation requiring acute measures. The therapeutic trend goes towards transnasal endoscopic resection. Primary intervention should be: minimally invasive, one-stage surgery, functional, and associated with low complication rates. Patency can be increased by saline irrigations, topical corticosteroids, endoscopic controls, and regular dilatation. The insertion of stents is controversially discussed but can be useful in syndromal patients. However, adjuvant therapy with a stent and mitomycin C is increasingly being abandoned. A significantly higher recurrence rate must be expected in association with CHARGE syndrome. Stenting should be considered on an individual basis. Continuous training and support of the parents are obligatory.

Nasal cavity shape in unilateral choanal atresia and the role of fetal ventilation in facial growth.

OBJECTIVE: The respiratory movements of fetal amniotic fluid areconsidered by certains cleft surgery teams to contribute to the growth of the nasal cavities (NC). To assess this functional hypothesis, we considered a group of patients with unilateral choanal atresia (CA) as a model of unilateral absence of amniotic fluid flux in the NC, and compared their NCs shape to age-matched controls. MATERIAL AND METHODS: Three-dimensional reconstructions of NC were performed using Avizo 9.7 (Thermo Fisher Scientific, MA, USA), based on CT-scans of 32 patients with unilateral CA and 96 age- and gender-matched controls. Landmarks were placed on anatomical structures of NC. Procrustes superimpositions and principal component analysis were performed. Anatomically relevant Euclidean distances were computed using the coordinates of selected landmarks - maxillary length, piriform orifice width, choanal width - and tested using multivariate analysis. Growth rates between patients and controls for these distances were screened for correlations. RESULTS: The atretic NC was significantly deformed when compared to the control cases: Procrustes distance was 0.28 (P<0.0001). The maxillary length and width of the atretic choana were significantly decreased compared to controls (-2.95mm and -1.35mm respectively, P<0.001). There were no differences in growth rates between CA and controls, except for the choanal width on the atretic side. CONCLUSION: NCs in CA were significantly different from controls. More precisely, the maxillary length was significantly reduced in the CA group. There was no other major shape difference between the NC in CA and controls. NC seems to develop despite abnormal fetal ventilation.

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

CHARGE syndrome (OMIM 214800) is a condition characterized by multisystem involvement with CHD7 pathogenic mutations leading to disease in the majority of patients. Discovery of the molecular cause of CHARGE unmasked a larger phenotypic spectrum than was previously appreciated. Within our interdisciplinary CHARGE syndrome program, we sought to characterize our CHD7-positive CHARGE cohort without coloboma or choanal atresia, highlighting complications and outcomes. We describe 18 individuals with CHD7-confirmed diagnosis from 15 families. The most sensitive finding in the cohort was temporal bone malformations, present in 13/15 individuals. Individuals had an average of 1.6 major features and 3.3 minor features defined by the Blake et al. guidelines. Despite lack of major features or major malformations, the majority of individuals continued to have difficulties with pneumonia, aspiration, secretion management and motility issues that greatly impacted their lives. Our findings illustrate the need for molecular testing and timely recognition given that the major co-morbidities are frequently experienced by patients with the mildest clinical spectrum of CHARGE syndrome.