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.

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.

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.

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.

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.

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.

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.

Atresia congénita bilateral de coanas en una adolescente: reporte de un caso / Congenital bilateral choanal atresia in an adolescelent: a case report

La atresia congénita de coanas se caracteriza por la presencia de placas que obliteran la comunicación entre la cavidad nasal y la nasofaringe desde el nacimiento. Se considera como incompatible con la vida cuando la condición es bilateral. El siguiente es el caso de una paciente femenina, de 17 años, sin síndromes asociados, con obstrucción y descarga nasal anterior bilateral, asociado a respiración oral desde el periodo neonatal. El diagnóstico de atresia bilateral de coanas fue confirmado por medio de endoscopía nasal y tomografía computarizada (TC). La imagen confirmó la presencia de placas atrésicas de composición mixta. La paciente recibió tratamiento quirúrgicamente por vía transnasal con resección de las placas y modelado de neocoana.

Congenital choanal atresia is characterized by the presence of plates obliterating the communication between the nasal cavity and the nasopharynx from birth. If bilateral, this condition is incompatible with life. This following is the case of a 17-year-old female patient, without associated syndromes, with bilateral nasal obstruction and anterior discharge, associated to oral breathing, starting in her neonatal period. The diagnosis of bilateral choanal atresia was confirmed by nasal endoscopy and computed tomography (CT) scan, due to the presence of atretic plates of mixed composition. The patient was surgically treated with plate resection and modeling of a neochoana by means of a transnasal surgical approach.

Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit.

OBJECTIVE: To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU. METHODS: A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, the results of medical and/or surgical interventions done by treating neonatologist were recorded. RESULTS: 88 bronchoscopies were performed in 83 neonates, of which 37 were done through endotracheal tube. Indications included persistent need for mechanical ventilation (32), persistent atelectasis (21), and stridor (27). Most common airway anomalies diagnosed included tracheobronchomalacia (20), laryngomalacia (18), subglottic stenosis (7), choanal atresia (4), laryngeal cleft (4), and tracheoesophageal fistula (4). Surgical interventions were undertaken in 17 cases (9 tracheostomies and 2 cases of slide tracheoplasty). CONCLUSIONS: Flexible fiberoptic bronchoscopy can be beneficial for the diagnosis and management of neonates with persistent or undiagnosed respiratory problems.

International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care.

OBJECTIVE: To provide recommendations to otolaryngologists and allied physicians for the comprehensive management of young infants who present with signs or symptoms of choanal atresia. METHODS: A two-iterative delphi method questionnaire was used to establish expert recommendations by the members of the International Otolaryngology Group (IPOG), on the diagnostic, intra-operative, post-operative and revision surgery considerations. RESULTS: Twenty-eight members completed the survey, in 22 tertiary-care center departments representing 8 countries. The main consensual recommendations were: nasal endoscopy or fiberscopy and CT imaging are recommended for diagnosis; unilateral choanal atresia repair should be delayed after at least age 6 months whenever possible; transnasal endoscopic repair is the preferred technique; long term follow-up is recommended (minimum one year) using nasal nasofiberscopy or rigid endoscopy, without systematic imaging. CONCLUSION: Choanal atresia care consensus recommendations are aimed at improving patient-centered care in neonates, infants and children with choanal atresia.

Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. Because she had difficulty hearing, we sequenced GATA3 and determined that she had a c.708_709insC (p.Ser237Glnfs*66) allelic variant in exon 3. As a result, we found a family of this disease. Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of varying clinical penetrance. We found a craniofacial anomaly, congenital choanal atresia, which was inherited as an autosomal dominant trait. Hypocalcemia coupled with vitamin D deficiency, triggered by carbamazepine treatment, ultimately revealed the proband's childhood- onset HDR syndrome. Pure-tone audiometry revealed different severities of deafness as well as the progression of sensory hearing loss. However, auditory brainstem response for hearing screening is probably insufficient for ascertaining HDR syndrome in the early stages of life. We presented new clinical clues to diagnose the HDR syndrome.

Congenital Choanal Atresia Repair: An Analysis of Adverse Perioperative Events.

OBJECTIVES: To identify risk factors and determine the perioperative morbidity of infants undergoing congenital choanal atresia (CCA) repair. STUDY DESIGN: Retrospective analysis of the ACS-NSQIP-P database (American College of Surgeons National Surgical Quality Improvement-Pediatric). SETTING: Tertiary medical center. SUBJECTS AND METHODS: Patients who underwent CCA repair at age ≤365 days at the time of surgery were queried via the ACS-NSQIP-P database (2013-2016) via Current Procedural Terminology code 30540. Analyzed outcomes include age, length of stay, medical comorbidities, operative time, readmission, reoperation, and postoperative complications. RESULTS: A total of 168 patients were identified, 70 of which were within the neonatal period. Preoperatively, gastrointestinal disease ( P < .0001), mechanical ventilation ( P < .0001), and oxygen supplementation ( P = .0040) were significantly greater in frequency among neonates. For all children preoperatively, ASA class ( P < .0001), chronic lung disease ( P = .0019), oxygen supplementation ( P < .0001), and prematurity ( P = .0016) had a significant impact on prolonged length of stay. Neonates had a persistent requirement for postoperative mechanical ventilation ( P < .0001) and a prolonged length of stay ( P < .00001). CONCLUSION: Neonates undergoing CCA repair are more likely to have a persistent requirement for postoperative mechanical ventilation and a prolonged length of stay. Recognition of key clinical factors may aid in optimizing perioperative risk assessment, patient counseling, and procedural planning.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

OBJECTIVE: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction. METHODS: We examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal SMCHD1 pathogenic missense variants to identify BAMS subphenotypes. RESULTS: None of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS. One patient became anosmic after nasal surgery and one patient was hyposmic; one man was infertile (unknown cause) but reported normal pubertal development. CONCLUSION: These data suggest that arhinia/BAMS and FSHD2 do not represent one phenotypic spectrum and that SMCHD1 pathogenic variants by themselves are insufficient to cause either of the 2 disorders. More likely, both arhinia/BAMS and FSHD2 are caused by complex oligogenic or multifactorial mechanisms that only partially overlap at the level of SMCHD1.

Choanal Atresia and Craniosynostosis: Development and Disease.

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.