Choanal Stenosis Research Articles

Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia is a rare congenital disorder that can cause craniofacial skeleton and tubular bone anomalies. A 7-month-old girl, with congenital facial palsy, mouth breathing, and nasal obstruction, was brought to the hospital because she suffered sudden cardiopulmonary arrest. Computed tomography showed bony narrowing of the choanae. The diagnosis was cardiopulmonary arrest triggered by asphyxia caused by severe choanal stenosis. She showed hypoxic encephalopathy and underwent a tracheotomy and an operation to enlarge choanae. When a neonate or young infant shows signs of nasal obstruction, physicians should aggressively search for and consider the possibility of choanal atresia or severe stenosis.

Two Cases of Acquired Choanal Stenosis or Atresia

We report clinically evaluating and surgically treating two cases of acquired choanal stenosis or atresia. Case 1: A 69-year-old woman reporting long-term nasal obstruction was found in workups including fiberscopy and computed tomography (CT) to have choanal stenosis, necessitating transnasal surgery. We resected the stenotic lesion and posterior nasal septum to avoid restenosis. One year postoperatively, the choana was slightly stenotic but she reported no nasal symptoms. Case 2: A 72-year-old woman reporting bilateral ear fullness and nasal obstruction was diagnosed with choanal atresia based on fiberscopy, CT, and magnetic resonance imaging (MRI). As in case 1, she underwent transnasal surgery. Postoperatively, however, the choana became increasingly stenotic and atresial in only one month and did not respond to surgery. We finally succeeded in making the choana patent with a tracheal stent made to fit the stenotic choana. The woman's only complaint thereafter was slight unnatural feeling.

Tratamiento quirúrgico en los trastornos respiratorios del sueño en los niños

The surgical treatment of sleep-related breathing disorders in children depends on the cause of the upper airway obstruction, which can be located in the nasal fossae, pharynx (the most frequent adenotonsillar hyperplasia), or larynx (laryngomalacia, cysts…), or can be multilevel, as in syndromic diseases. Adenotonsillectomy is the most frequently performed and effective (70–80%) procedure. The aim of this technique is to normalize nocturnal respiratory parameters and daytime symptoms, as well as to revert, or at least to halt, cardiovascular complications, neurocognitive disturbances, growth delay and enuresis, which can develop if treatment is not provided or is delayed. However, despite its effectiveness, adenotonsillectomy more frequently leads to complications in children with sleep apnea-hypopnea syndrome (SAHS) than in those undergoing this procedure for other reasons. Moreover, 20–30% of children with SAHS who undergo adenotonsillectomy will show residual SAHS, and this percentage can increase to 70% in patients with severe SAHS, Down syndrome, craniofacial anomalies, neuromuscular disturbances, and morbid obesity. Consequently, both clinical and polysomnographic follow-up are recommended after adenotonsillectomy, especially in the latter risk group. Finally, other obstructive disorders of the upper airway must also be treated, although less frequently due to their lower incidence. These disorders include choanal atresia or stenosis, laryngomalacia, and hypoplasia of the midface or mandible. Tracheotomy will sometimes be required.

Spectrum of Antley-Bixler Syndrome

Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen within ABS, and other features include midface hypoplasia; choanal stenosis or atresia; multiple joint contractures; visceral anomalies, particularly of the genitourinary system; and impaired steroidogenesis. The condition of ABS is curious in that mutations of 2 separate genes have been identified and that there seem to be subtle phenotypic differences between the 2 genotypes. Mutations of the P450 oxidoreductase gene have been reported in those patients with genital anomalies and/or impaired steroidogenesis, and the S351C mutation of the fibroblast growth factor receptor 2 gene has been reported predominantly in those patients with normal genitalia and steroidogenesis. We report a series of 4 patients with ABS and review their main findings and management.

Cleft Palate in Pfeiffer Syndrome

The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency.

Novel FGFR2 deletion in a patient with Beare–Stevenson‐like syndrome

Novel <i>FGFR2</i> deletion in a patient with Beare–Stevenson‐like syndrome

Characterization of Congenital Anomalies in Individuals With Choanal Atresia

To review a tertiary care pediatric hospital's experience with choanal atresia and stenosis (CA/S) related to associated congenital anomalies (birth defects, including minor abnormalities) and genetic disorders. Retrospective case series. Tertiary care pediatric hospital. Individuals with CA/S. Identification of congenital anomalies, neurologic abnormalities, and developmental disabilities in individuals with CA/S. One hundred twenty-nine individuals with CA/S were evaluated between July 1, 1997, and July 1, 2007. Choanal atresia and stenosis was an isolated finding in 34 patients (26.4%) and was associated with other anomalies in 95 patients (73.6%). Specific conditions were diagnosed in 66 patients (51.2%); CHARGE (coloboma, heart defect, atresia choanae, retarded growth, genitourinary abnormalities, and ear anomalies) syndrome was the most common diagnosis (33 patients [25.6%]). Numerous conditions were seen, including chromosomal abnormalities, single-gene defects, deformations, and those caused by teratogens. Choanal atresia and stenosis was unilateral in 62 patients (48.1%) and was bilateral in 60 patients (46.5%). Unilateral cases were more likely to be isolated (30 patients [53.2%]). Bilateral cases were more likely to be associated with specific disorders or multiple congenital anomalies (60 patients [98.4%]). There was no difference in laterality among unilateral cases. Choanal atresia and stenosis is associated with a wide range of disorders. Congenital anomalies, neurologic abnormalities, and developmental disabilities are commonly identified in affected individuals. Bilateral CA/S is more commonly seen in patients in whom specific diagnoses or other congenital anomalies are identified. Unilateral CA/S occurs more frequently in isolated cases. A comprehensive evaluation is recommended in individuals with CA/S to evaluate for other congenital anomalies, neurologic abnormalities, developmental delays, and evidence of a specific underlying disorder.

Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 8.

Magnetic resonance microscopy (MRM), magnetic resonance imaging (MRI) at microscopic levels, provides unprecedented opportunities to aid in defining the full spectrum of ethanol's insult to the developing brain. This is the first in a series of reports that, collectively, will provide an MRM-based atlas of developmental stage-dependent structural brain abnormalities in a Fetal Alcohol Spectrum Disorders (FASD) mouse model. The ethanol exposure time and developmental stage examined for this report is gestational day (GD) 8 in mice, when the embryos are at early neurulation stages; stages present in humans early in the fourth week postfertilization. For this study, pregnant C57Bl/6J mice were administered an ethanol dosage of 2.8 g/kg intraperitoneally at 8 days, 0 hour and again at 8 days, 4 hours postfertilization. On GD 17, fetuses that were selected for MRM analyses were immersion fixed in a Bouin's/Prohance solution. Control fetuses from vehicle-treated dams were stage-matched to those that were ethanol-exposed. The fetal mice were scanned ex vivo at 7.0 T and 512 x 512 x 1024 image arrays were acquired using 3-D spin warp encoding. The resulting 29 microm (isotropic) resolution images were processed using ITK-SNAP, a 3-D segmentation/visualization tool. Linear and volume measurements were determined for selected brain, head, and body regions of each specimen. Comparisons were made between control and treated fetuses, with an emphasis on determining (dis)proportionate changes in specific brain regions. As compared with controls, the crown-rump lengths of stage-matched ethanol-exposed GD 17 fetuses were significantly reduced, as were brain and whole body volumes. Volume reductions were notable in every brain region examined, with the exception of the pituitary and septal region, and were accompanied by increased ventricular volumes. Disproportionate regional brain volume reductions were most marked on the right side and were significant for the olfactory bulb, hippocampus, and cerebellum; the latter being the most severely affected. Additionally, the septal region and the pituitary were disproportionately large. Linear measures were consistent with those of volume. Other dysmorphologic features noted in the MR scans were choanal stenosis and optic nerve coloboma. This study demonstrates that exposure to ethanol occurring in mice at stages corresponding to the human fourth week postfertilization results in structural brain abnormalities that are readily identifiable at fetal stages of development. In addition to illustrating the utility of MR microscopy for analysis of an FASD mouse model, this work provides new information that confirms and extends human clinical observations. It also provides a framework for comparison of structural brain abnormalities resulting from ethanol exposure at other developmental stages and dosages.

Repair of Acquired Posterior Choanal Stenosis and Atresia by Temperature-Controlled Radio Frequency With the Aid of an Endoscope

To examine the clinical effects of temperature-controlled radio frequency (TCRF) repair of acquired choanal stenosis and atresia with the aid of an endoscope and to discuss the value of acquired choanal stenosis and atresia typing in clinical therapy. Retrospective study. Academic otorhinolaryngologic referral center. Thirty-two patients, aged 32 to 65 years, with acquired choanal stenosis and atresia (from trauma in 9 cases and from radiotherapy after nasopharyngeal carcinoma in 23 cases); 13 cases were bilateral, and 19 were unilateral. Transnasal TCRF repair with the aid of an endoscope. Acquired choanal stenosis and atresia can be divided into 3 types: type 1, diagnosed within 3 months of the causative trauma or radiotherapy; type 2, diagnosed between 3 and 6 months after the trauma or radiotherapy; and type 3, diagnosed more than 6 months after the trauma or radiotherapy. All patients with types 1 and 2 disease received nasal stents made from Silastic that were fixed with transseptal sutures. However, patients with type 3 disease received no stenting. The thickness of the stenosis and atresia revealed by computed tomographic scan and the surgical results were also analyzed. There was no significant correlation between them (P > .05). Twenty-nine patients remained free of symptoms for 12 to 42 months after surgery. Three patients required revision surgery, including 2 cases of type 1 disease (3 sides) and 1 case of type 2 (1 side). Two of the patients who underwent revision recovered completely, with no restenosis at 12 months after the second surgery. However, 1 patient with type 1 bilateral atresia experienced another restenosis and required another revision, through a transpalatal approach. There were no postoperative complications. There was no significant correlation between thickness of the stenosis revealed by computed tomographic scan and the surgical results. We describe a TCRF technique with the aid of an endoscope for choanal repair. In our experience, it has been a highly successful, safe, and effective procedure, with minimal blood loss, swift recovery, and short time of hospitalization. It is important in postoperative care to remove any granulation or polyps at the site of the neochoana. Types 2 and 3 are the best types of disease to treat with this procedure.

Velopharyngeal stenosis, a late complication of radiotherapy

Choanal stenosis has recently been recognized as a late complication of radiation therapy for nasopharyngeal carcinoma. The management of velopharyngeal stenosis is challenging with high risk of restenosis. We report a case of velopharyngeal stenosis post-radiotherapy and illustrated the use of mitomycin-C to prevent restenosis. Mitomycin-C application has being shown useful adjunct to surgical technique in managing nasopharyngeal stenosis for surgeons.

Sténose choanale post-radique

Objective Description of a rare complication of radiation therapy for nasopharyngeal carcinomas and the therapeutic value of surgical endoscopic desobstruction. Case report A choanal stenosis observed in an 8-year-old boy, 3 years after radiation therapy and chemotherapy for a voluminous nasopharyngeal carcinoma. No initial involvement of the nasal fossa was observed. Concomitant relapse was excluded after clinical and histological examination. Results A good functional result was achieved after the choana was unblocked in videoendoscopic surgery. After 9 months of follow-up, the breathing and odor functions remained intact. Conclusion Choanal stenosis is a rare complication of radiotherapy for nasopharyngeal carcinoma. Relapse should be excluded with biopsies beyond the stenosis. Treatment is based on endoscopic surgery.

Nasal Foreign Body Removal in Children

Nasal foreign bodies in children are often managed in the pediatric emergency department. The child is usually between 2 and 4 years old, and the foreign body is most commonly a plastic toy or bead. Nasal foreign bodies are removed by a number of techniques. Positive-pressure expulsion is accomplished by orally applied pressure via a parent's mouth or an Ambu bag or by nasally applied pressure via a catheter or an oxygen source. The object can be washed out with nasally applied saline. Direct mechanical extraction is possible with a variety of tools, including forceps, hooks, or balloon-tipped catheters. Each method carries its own risks and benefits. Serious complications of nasal foreign bodies include posterior dislodgement and aspiration, trauma caused by the object itself or removal attempts, infection, and choanal stenosis. Magnets and button batteries require emergent removal as they carry the risk of septal perforation or necrosis, which may develop within a relatively short time.

Transnasal endoscopic repair of acquired posterior choanal stenosis and atresia

There are congenital and acquired choanal atresias and many approaches have been used for their repair. We assessed the clinical effect of power instrument, endoscopic repair of acquired choanal stenosis and atresia. Nineteen patients, aged from 32 to 61 years, with acquired choanal stenosis and atresia (from trauma in 5 cases and from radiotherapy after nasopharyngeal carcinoma in 14; 6 bilateral and 13 unilateral cases), underwent transnasal endoscopic repair of choanal stenosis and atresia. No patient had stenting. Antibiotic and local glucocorticoid were administered postoperatively. Eighteen patients remained free of symptoms for 12 - 40 months after the surgery, and the diameter of the neochoana was more than 1 cm after the procedure. One patient required revision surgery and recovered completely with no restenosis at 12 months after the second surgery. There were no postoperative complications. Histology of the resected tissue revealed respiratory epithelial-lined stromal tissue with chronic inflammation, edema and fibrosis, but no tumor cells. Transnasal endoscopic approach is a useful procedure for the repair of acquired choanal stenosis and atresia: it is highly successful, safe and effective with swift recovery and short time of hospitalization. It is very important in postoperative care to remove any granulation or polyps at the site of the neochoana at that time.

Tumores neonatales y malformaciones congénitas

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data exist on the neonatal period and the majority are from medical institutions registers. The prevalence varies from 15 to 31.6%. To explain this association, the hypotheses are based on prenatal exposures (preconceptional and transplacental exposure), to mutagenic and carcinogenic risk factors. Neonatal tumours are more often associated to congenital abnormalities than other pediatric cancers. The inclusion and classification criteria needs to be unified to better understand the association between the neonatal tumours and congenital abnormalities. The environmental history in all neonatal tumours associated to congenital abnormalities, including the constitutional and environmental risk factors, will help to improve our knowledge of the underlying prenatal mechanisms and to an advance in its prevention.

Choanal stenosis in Crohn's disease: A case report and review of literature

Choanal stenosis in Crohn's disease: A case report and review of literature

Choanal stenosis in Crohn's disease: A case report and review of literature

Summary Crohn's disease is a granulomatous inflammatory bowel disease. Its pathologic findings include non-contiguous chronic inflammation and non-caseating granulomas sometimes with extra-intestinal localizations. Nasal manifestations of Crohn's disease are quite rare. They are characterized by chronic mucosal inflammation, obstruction, bleeding and occasionally septal perforation. The authors describe the case of a 4-year-old girl with Crohn's disease with recurrent epistaxis and narrowing of the right choana, secondary to fibrous tissue.

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

Treacher Collins syndrome (TCS) is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. We report an infant with mandibulofacial dysostosis and an apparently balanced de novo 2;17 translocation. She presented with severe lower eyelid colobomas requiring skin grafting, malar and mandibular hypoplasia, bilateral microtia with external auditory canal atreasia, dysplastic ossicles, hearing loss, bilateral choanal stenosis, cleft palate without cleft lip, several oral frenula of the upper lip/gum, and micrognathia requiring tracheostomy. Her limbs were normal. Chromosome analysis at the 600-band level showed a 46,XX,t(2;17)(q24.3;q23) karyotype. Sequencing of the entire TCOF1 coding region did not show evidence of a sequence variation. High-resolution genomic microarray analysis did not identify a cryptic imbalance. FISH mapping refined the breakpoints to 2q31.1 and 17q24.3-25.1 and showed the 2q31.1 breakpoint likely affects the HOXD gene cluster. Several atypical findings and lack of an identifiable TCOF1 mutation suggest that this child has a provisionally unique mandibulofacial dysostosis syndrome. The apparently balanced de novo translocation provides candidate loci for atypical and TCOF1 mutation negative cases of TCS. Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient.

Congenital Inferior Turbinate Hypertrophy: An Unusual Cause of Neonatal Nasal Obstruction

To identify etiologies of congenital nasal obstruction and describe clinical practice patterns in the evaluation, diagnosis, and treatment of symptomatic infants.An electronic chart review from 1/1/2006–10/1/2016 for all patients with a diagnosis of nasal obstruction within the first six months of life using ICD-9 and 10 codes 478.19 and J34.89.A total of 34 patients were evaluated by the Division of Otolaryngology for this chief complaint. 38% of neonates were born premature and 32% were admitted to the NICU at birth, with a female-to-male ratio of 1:1.4. Presenting signs and symptoms included: stertor (44%), cyanosis (24%), stridor (24%), retractions (21%), rhinorrhea (21%), apnea (12%), and epistaxis (8%). 47% of patients received ancillary radiographic imaging (CT or MRI). Diagnoses observed include: midnasal stenosis (38%), pyriform aperture stenosis (21%), choanal stenosis (12%), dacryocystocele (6%), microrhinia (6%), septal deviation (6%), nasopharyngeal reflux (3%), nasopharyngeal teratoma (3%), neonatal rhinitis (3%), and pharyngeal wall collapse (3%). 71% of patients were noted to have bilateral nasal obstruction. 41% of infants were found to have an associated ear, nose, and throat anomaly. 15% of patients required surgical intervention. The mean time-to-resolution was 240 days.Congenital nasal obstruction has a broad differential diagnosis: the timing, onset, and laterality of symptoms can provide insights into the source of upper airway compromise. Most infants improve through conservative management (i.e. suctioning, humidification) and medical therapies (i.e. intranasal drops, nasal sprays).

Sténose choanale post-radique : une complication rare de la radiothérapie des carcinomes nasopharyngés

Choanal stenosis is usually a congenital anomaly in children. Acquired choanal stenosis after radiotherapy for nasopharyngeal carcinoma is a very rare pathology; only two publications report seven cases in the literature. We describe the clinical history, preoperative evaluation, surgical treatment and outcome of a case of acquired choanal stenosis after radiotherapy. The patient, a 56-year-old woman, presented with a history of nasopharyngeal carcinoma (T2- NO-MO) one year before that had been successful treated with radiotherapy (68 Gy). At the end of radiotherapy, she complained of complete nasal obstruction, anosmia and hearing loss due to a bilateral serous otitis media. Bilateral complete choanal stenosis was confirmed by endoscopy and CT scan. Functional endoscopic surgery was performed, and nasal stents were left in place for 3 weeks. One year after, the patient have good airflow, and a patent nasopharynx without choanal stenosis. In conclusion, choanal stenosis is an unusual complication of radiotherapy that can be sucessfully treated with transnasal endoscopic resection.

Congenital pyriform aperture stenosis

Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis.