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 report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report.

The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases looking for diagnostic criteria and associated genetic alterations. The mutation in the SMCHD1 gene (Structural Maintenance of Chromosomes flexible Hinge Domain containing protein 1) seems to explain a part of the development of the phenotype. Not all cases show the same alterations or meet the classic diagnostic criteria, and few have undergone genetic analysis. We present a case with a new variant in this gene and an update of the literature on this syndrome with the aim of improving the diagnosis and follow-up of these patients.

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.

[Choanal atresia repair in Germany : Resection of dorsal septal parts and stents in focus]. / Versorgung von Choanalatresien in Deutschland : Dorsale Septumresektion und Stents im Fokus.

BACKGROUND: Various surgical techniques using transpalatinal, transseptal, and transnasal approaches for surgical repair of choanal atresia have been developed over the past 200 years. Endoscopic endonasal surgery with resection of dorsal septal parts and without the use of stents is the current scientific trend, as high success rates with low complication rates can be achieved. This study examined whether this technique has actually become standard in Germany, and also investigates the role played by stents. METHODS: A total of 52 ear, nose, and throat (ENT) hospitals in Germany, including all 39 university ENT hospitals and 13 non-university maximum-care ENT hospitals, were asked which surgical technique they use for choanal atresia repair and whether stents are used. RESULTS: For dorsal septal resection, 39 of 44 responding hospitals (89%) indicated that they resect dorsal septal parts, 85% of the university hospitals and 100% of the non-university hospitals. For use of stents, 20 of 48 responding hospitals (42%) reported not using stents, whereas 39% of the university hospitals and 50% of the non-university hospitals do use them. CONCLUSION: Endoscopic endonasal choanal atresia repair with resection of dorsal septal parts is, in most instances, used as the standard technique in large ENT hospitals in Germany. Routine use of stents is still widespread. The future aim should be to reduce the use of stents in the treatment of choanal atresia and to use this method only in difficult, individual cases.

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.

[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.

Incidence of Airway Abnormalities in Children With Craniosynostosis.

INTRODUCTION: Children with syndromic craniosynostosis are known to have a high propensity for associated airway abnormalities. However, this has not been investigated using a large-scale national database. METHODS: For this retrospective cohort study, the 2016 Healthcare Cost and Utilization Project Kid's Inpatient Database was queried for craniosynostosis patients. Data on demographics, airway diagnoses, and comorbidities were analyzed. RESULTS: Four thousand nine hundred fourteen children with craniosynostosis with a mean age of 1.7±3.6 years were identified. Of these, 51% were female and 136 children had an associated syndrome. Choanal atresia was present in 31% of patients with an associated syndrome versus 2.5% without. Syndromic patients are 4.59 times more likely (95% CI 2.65-7.94) to have airway anomalies than nonsyndromic patients. After age and sex adjustment, craniosynostosis patients have higher likelihoods of presenting with other anomalies, with syndromic having higher incidences: 5.23 times (95% CI 2.63-10.39) more likely to have laryngomalacia, 18.30 times (95% CI 3.27-102.36) more likely to have tracheal stenosis, and 4.58 times (95% CI 1.36- 15.43) more likely to have tracheomalacia. Incidence of tracheostomy was 5.84 times (95% CI 3.77-9.04) higher in syndromic patients with craniosynostosis. Tracheostomy rates were 28.4% and 4.6% in craniosynostosis patients with and without associated syndrome, respectively. CONCLUSION: Syndromic craniosynostosis patients had significantly higher incidences of choanal atresia and other airway anomalies. Given a high incidence of airway anomalies, syndromic craniosynostosis patients likely warrant routine airway evaluation. Providers should also be vigilant about airway evaluation in patients with nonsyndromic craniosynostosis when aerodigestive symptoms arise.

Proboscis Lateralis With Choanal Atresia.

The case of a female patient who was born with proboscis lateralis, choanal atresia, and telecanthus is submitted. A report is made on the initial management of this patient, the clinical follow-up that has been carried out so far, and a review of the literature is conducted, taking into account the limited information found in this specific pathology, in order to contribute to its diagnostic orientation and treatment from a plastic and craniofacial surgery point of view.

Balloon dilation and transient stenting of unilateral membranous choanal atresia in a British Shorthair cat with chronic purulent rhinitis and ascending meningoencephalitis.

INTRODUCTION: Choanal atresia is a rare congenital anomaly in humans and animals, characterized by the absence of communication of one or both nasal cavities with the nasopharynx. The severity of clinical signs depends on the presence of unilateral versus bilateral stenosis as well as comorbidities. With bilateral atresia, respiration may be severely compromised particularly during sleep, as airflow can only occur when breathing through the open mouth. Various therapeutic modalities have been described in people and adopted for animals. All treatments may be associated with complications, the most important being post-therapeutic scar formation with re-stenosis. This report describes a 10-month-old British Shorthair cat with chronic unilateral serosal nasal discharge that changed to mucopurulent discharge. When acute neurological signs developed, the cat was presented to the veterinary hospital. A diagnosis of primary, membranous right sided choanal atresia was achieved via computed tomography (CT) and nasopharyngeal (posterior) rhinoscopy. Secondary changes included destructive rhinitis with progression to the CNS with a subdural empyema and meningoencephalitis. Retinal changes and aspiration bronchopneumonia were suspected additional complications. After recovery from the secondary infections, the membranous obstruction was perforated and dilated using a valvuloplasty balloon by an orthograde transnasal approach under endoscopic guidance from a retroflexed nasopharyngeal view. To prevent re-stenosis, a foley catheter was placed as a transient stent for 6 days. The cat recovered uneventfully and was asymptomatic after the stent removal. Endoscopic re-examination after 5 months confirmed a persistent opening and patency of the generated right choanal passage. The cat remains asymptomatic 10 months after the procedure. Transnasal endoscopic balloon dilation and transient stenting of choanal atresia is a minimally invasive and relatively simple procedure with potentially sustained success.

INTRODUCTION: L'atrésie des choanes est une anomalie congénitale rare chez l'homme et l'animal, caractérisée par l'absence de communication d'une ou des deux cavités nasales avec le nasopharynx. La gravité des signes cliniques dépend de la présence d'une sténose unilatérale ou bilatérale, ainsi que des comorbidités. En cas d'atrésie bilatérale, la respiration peut être gravement compromise, en particulier pendant le sommeil, car l'air ne peut circuler que par la bouche ouverte. Diverses modalités thérapeutiques ont été décrites chez l'homme et adaptées pour les animaux. Tous les traitements peuvent être associés à des complications, la plus importante étant la formation de cicatrices post-thérapeutiques avec resténose. Ce rapport décrit un chat British Shorthair de 10 mois présentant un écoulement nasal séreux unilatéral chronique qui s'est finalement transformé en un écoulement muco-purulent. Lorsque des signes neurologiques aigus sont apparus, le chat a été présenté à l'hôpital vétérinaire. La tomodensitométrie (CT) et la rhinoscopie nasopharyngée (postérieure) ont permis de diagnostiquer une atrésie choanale primaire membraneuse du côté droit. Les altératiins secondaires comprenaient une rhinite destructrice avec une progression vers le SNC avec empyème sous-dural et méningo-encéphalite. Des altérations de la rétine et une bronchopneumonie par aspiration étaient des complications supplémentaires présumées. Après guérison des infections secondaires, l'obstruction membraneuse a été perforée et dilatée à l'aide d'un ballonnet de valvuloplastie par une approche transnasale orthograde sous guidage endoscopique à partir d'une vue nasopharyngée rétrofléchie. Pour éviter une nouvelle sténose, une sonde de Foley a été placée comme stent transitoire pendant 6 jours. Le chat s'est rétabli sans incident et était asymptomatique après le retrait du stent. Le réexamen endoscopique effectué 5 mois plus tard a confirmé la persistance de l'ouverture et de la perméabilité de la voie choanale droite générée. Le chat reste asymptomatique 10 mois après l'intervention. La dilatation endoscopique transnasale par ballonnet et la pose d'une endoprothèse transitoire dans le cas d'une atrésie des choanes est une procédure peu invasive et relativement simple dont le succès peut être durable.

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.

Empirical overview of a delayed diagnosis of bilateral congenital choanal atresia in an adolescent male: management with 'coblation-assisted surgery'.

Bilateral choanal atresia (CA) is a congenital anomaly consisting of an imperforated choana that leads to newborn fatalities but, if unilateral, may go unnoticed for many years. Bilateral CA occurring without significant symptoms and remaining undiagnosed for many years is rare. This case report identifies an adolescent male with bilateral CA who remained undiagnosed till adolescence. The patient presented with isolated complaints of chronic nasal obstruction and discharge and was diagnosed with bilateral CA by endoscopic and radiological evaluation. The patient underwent a coblation-assisted endoscopic CA repair, with a crossover mucoperiosteal flap technique, without stenting and with a successful outcome.

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.

Cross-over septal flap technique for choanal atresia surgery in two centres: how I do it.

BACKGROUND: Choanal atresia is a congenital obstruction of the posterior nasal aperture. Endoscopic endonasal surgery has led to successful choanal atresia repair. This paper describes our surgical technique using septal mucosal flaps without the need for stenting. METHODS: This study comprised a multicentre retrospective review of patient notes. A cross-over septal technique is described, whereby bilateral vertical mucosal incisions are made at the posterior third of the septum, and the atretic plate and posterior vomer are removed. One flap is pedicled superiorly and rotated over the bare skull base and sphenoid bone; the contralateral flap is pedicled inferiorly to cover the exposed vomer remnant and hard palate. RESULTS: There were 12 patients from 2013 to 2020, aged 0.07-50 years, with a male to female ratio of 1:5. Ten patients had unilateral and two had bilateral choanal atresia. Nine patients had bony choanal atresia, with the remainder mixed. CONCLUSION: The cross-over technique for choanal atresia has low morbidity and 100 per cent success in our series. The use of mucoperiosteal flaps to cover exposed bone and minimal instrumentation to the lateral nasal wall reduce post-operative stenosis.

Endoscopic endonasal repair of bilateral choanal atresia in a 1200 g preterm infant: Is it feasible? (With video).

INTRODUCTION: Bilateral choanal atresia (CA) is a rare congenital anomaly, that causes neonatal respiratory distress. No consensus exists regarding the most appropriate surgical approach in low-birth weight preterm infants. CASE REPORT: We present (with video) the case of a male born at 29 weeks' gestation, 1200 g, affected by bilateral CA. He was successfully treated with an endoscopic transnasal approach performed on day 4 of life which allowed a very early extubation. Otologic instruments and 2.7 mm wide endoscope were used to be able to operate in very narrow nasal cavities. Thulium LASER® was used to limit bleeding. At the follow-up visit, four months after surgery, the neochoana was widely patent. DISCUSSION: In low-birth weight preterm infants, endoscopic transnasal surgery (ETS) may be considered technically not feasible or with a high risk of early restenosis. With early ETS, we were able to avoid the morbidity of a prolonged intubation and sedation. CONCLUSION: Bilateral CA is a life threatening and challenging clinical entity, particularly difficult to treat in low-birth preterm infants. Early surgery to reduce intubation and sedation is preferable, but requires experienced teams with a surgical technique and instruments tailored to the narrowness of the nasal cavity.

Unilateral Choanal Atresia Presenting With Congenital Respiratory Distress and Recurrent Cyanotic Episodes.

Congenital unilateral choanal atresia (CA) is not considered an emergent condition and should not cause respiratory distress in the newborn. Therefore, surgical repair of unilateral CA is usually delayed. This description of a newborn with congenital unilateral CA that caused significant respiratory distress, recurrent cyanotic episodes, and severe feeding difficulties highlights an exception to that rule.

Choanal atresia: Diagnosis and management

Objective: Choanal atresia (CA) is a rare congenital malformation caused by the obliteration of the posterior choanae by an atretic plate. The aim of our study is to describe the diagnosis and management modalities of CA and to determine the factors associated with recurrence. Materials and methods: This is a retrospective study based on the medical records of patients with CA managed in our department in the period between 2002 and 2021. We studied the clinical features and management modalities of each patient. For patients who developed a recurrence, we determined the factors associated with recurrence based on a bivariate analysis. Results: We studied the medical records of 26 patients with either a bilateral (n=8) or a unilateral (n=16) form of CA. The median age at surgery was two days for bilateral forms and 5 years and 4 months for unilateral forms. At computed tomography scan, CA was mixed (n=20), bony (n=4) or membranous (n=2). All patients underwent intranasal endoscopic surgical treatment using cold instruments alone in membranous forms and combined to the drilling of the atretic plate in bony and mixed forms. The surgical management included the resection of the posterior part of the vomer bone and the placement of nasal stents in 10 and 16 patients respectively. We recorded 6 cases of recurrence requiring a surgical re-intervention. The presence of associated cranio-facial malformations was the only factor associated with recurrence (p=0,001). Conclusion: Choanal atresia diagnosis was based on nasal endoscopy and CT scan. Surgical treatment using transnasal endoscopic approach was an effective and safe technique. Associated local malformations was a factor associated with re-stenosis

A patient with mosaic USP9X gene variant.

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the peripheral blood after birth (14% and 30%, respectively). The X methylation status analysis displayed a partially skewed X-inactivation with 80% of inactive paternal X. The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa, an upward rotation of the cerebellar vermis and partial corpus callosum agenesis, together with a cardiac septal defect and a single umbilical artery. After birth and during postnatal follow-up the anal anteriorization and the presence of a bilateral membranous choanal atresia were noted, whereas the MRI revealed the hypo/aplasia of the olfactory bulbs, a widening of the subarachnoid spaces and a delay in the myelinisation. During the 18-months follow-up a severe growth and global developmental delay, together with a bilateral moderate deafness with a threshold at 40 dB, dental enamel erosions and an initial scoliosis were observed. We report the prenatal and postnatal features of a classical MRXS99F phenotype and a mosaic USP9X frameshift variant with a partially skewed X inactivation and discuss genotype/phenotype correlations in view of the published studies so far.

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities.

Maternal hyperthyroidism is associated with an increased incidence of congenital abnormalities at birth, but it is not clear which of these defects arise from a transient developmental excess of thyroid hormone and which depend on pregnancy stage, antithyroid drug choice, or unwanted subsequent fetal hypothyroidism. To address this issue, we studied a mouse model of comprehensive developmental thyrotoxicosis secondary to a lack of type 3 deiodinase (DIO3). Dio3-/- mice exhibited reduced neonatal viability on most genetic backgrounds and perinatal lethality on a C57BL/6 background. Dio3-/- mice exhibited severe growth retardation during the neonatal period and cartilage loss. Mice surviving after birth manifested brain and cranial dysmorphisms, severe hydrocephalus, choanal atresia, and cleft palate. These abnormalities were noticeable in C57BL/6J Dio3-/- mice at fetal stages, in addition to a thyrotoxic heart with septal defects and thin ventricular walls. Our findings stress the protecting role of DIO3 during development and support the hypothesis that human congenital abnormalities associated with hyperthyroidism during pregnancy are caused by transient thyrotoxicosis before clinical intervention. Our results also suggest thyroid hormone involvement in the etiology of idiopathic pathologies including cleft palate, choanal atresia, Chiari malformations, Kaschin-Beck disease, and Temple and other cranio-encephalic and heart syndromes.