Choanal Stenosis Research Articles

Gastroesophageal Reflux Disease: Serious Illness Potential Often Misunderstood

Gastroesophageal Reflux Disease: Serious Illness Potential Often Misunderstood

Sequential External Beam Radiotherapy and High–Dose‐Rate Intracavitary Brachytherapy in T1 and T2 Nasopharyngeal Carcinoma: An Evaluation of Long‐Term Outcome

The standard treatment for nonmetastatic nasopharyngeal carcinoma (NPC) is external beam radiotherapy (EBRT), with or without chemotherapy. Because local control in NPC is an independent prognostic factor for distant metastases and survival, various dose-escalation strategies have been used to reduce recurrences at the primary site. The objective of this report was to evaluate the outcome of adjuvant high-dose-rate intracavitary brachytherapy (HDRIB) in patients with T1 and T2 NPC. Thirty-three consecutive patients with T1 and T2 NPC were treated prospectively according to a standardized institutional protocol between March 1999 and July 2001. Seventeen patients with stage I/II disease were treated with EBRT to 66 Gy followed by HDRIB (10 Gy in 2 weekly 5 Gy fractions). The remaining 16 patients with Stage III to IVb disease received chemotherapy in addition to radiation. All patients were assessed for treatment response, local control, survival, and toxicity. Median follow-up for all surviving patients was 67 (range 52-76) months. Local failure occurred in two patients; both subsequently underwent successful salvage treatments. Three patients died of metastatic disease, whereas two died of unrelated causes. Five year local control, overall survival, and disease-free survival rates were 93.8%, 83.9% and 78.4%, respectively. All patients experienced acute or late radiotherapy-related sequelae. However, no grade 4/5 toxicities were reported. Specifically, toxicities that could be attributed to brachytherapy were not seen, except for in one patient who developed severe choanal stenosis. EBRT supplemented by HDRIB produced superior local control rates for T1 and T2 NPC at 5 years of follow-up, with acceptable rates of acute and late toxicities.

Solitary median maxillary central incisor (SMMCI) syndrome

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th–38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of an SMMCI tooth can predict associated anomalies and in particular the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18–22 weeks from the routine mid-trimester ultrasound scan. Management depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment. Short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.

A case of Beare–Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

We present a case of Beare-Stevenson syndrome with a broad range of phenotypic features including craniosynostosis, cutis gyrata, choanal stenosis, bifid scrotum with perineal hypospadias and a caudal appendage. The paternal age at the time of conception was 62 years consistent with a paternal age effect. Mutation analysis was undertaken and demonstrated the FGFR2 Y375C mutation. This case, one of only nine with molecular analysis, confirms the significant morbidity associated with this syndrome.

Surgical technique in endoscopic posterior septoplasty for an adult patient with choanal stenosis

The technique in endoscopic posterior septoplasty for the case of a female aged 49 with bilateral choanal stenosis is presented. This female had undergone endoscopic nasal surgery for stenosis twice before the posterior septoplasty. However, restenosis of the choanae had arisen within 2 weeks after each surgery. This patient underwent the endoscopic posterior septoplasty under general anesthesia. After removal of the cartilage and bony structures of the nasal septum, the posterior one-third of bilateral septal membranes was excised. This technique is to enlarge the choanal opening obliquely. Excellent visualization for the septoplasty using the endoscope was obtained. Sufficient patency of the choanae was achieved using this technique. There still is no restenosis of the choanae observed and the rhinomanometry shows extreme decrease of nasal airway resistance 1 year after this surgery. It is considered that endoscopic posterior septoplasty for choanal stenosis is an effective procedure with low morbidity and long-term patency.

Neonatal nasal obstruction and a single maxillary central incisor

We present two neonates with nasal obstruction because of anterior choanal stenosis (congenital nasal pyriform aperture stenosis). An associated single maxillary central incisor was also shown on computed tomography imaging in the neonatal period. These midline anomalies are recognized minimal manifestations (microforms) of holoprosencephaly. We describe their neonatal investigation, multidisciplinary management and clinical course.

Choanal stenosis and atresia

cavity, i.e. the choanae, is the most common congenital abnormality of the nasal cavity. Stenosis is considered to be more common than atresia. Bilateral atresia is life-threatening in neonates, who are obligate nasal breathers. These patients present early with severe respiratory distress, aggravated by feeding. Other pointers to the diagnosis include the inability to pass a nasogastric tube and relief of respiratory compromise on crying. The patients with unilateral disease typically present later in life with unilateral, chronic suppurative rhinorrhoea. This form of the condition is more common but due to its chronic, relapsing symptomatology the diagnosis is often delayed. Definitive diagnosis can be made by computed tomography (CT) scanning. Using images from our practice, we would like to propose an approach to scanning and interpretation of this entity. CT is the imaging modality of choice. Patients are examined supine, with nasal passages well suctioned before imaging commences. Topical nasal vasoconstrictors may be helpful to reduce mucosal swelling. The gantry is angled 5° cephalad to a plane parallel to the hard palate. One to 1.5 mm thick uncontrasted scans are obtained contiguously. The skull base is only partially ossified at birth and therefore conventional bone-window settings may not show the bony margins. High-resolution bone filters help overcome this problem. Interpretation of the images rests on measurements of the posterior vomer, the choanal openings and the shape of the posteromedial maxilla. The anatomical landmark at which to evaluate the scan is at the level of the pterygoid plates (Fig. 1). Below this level the hard palate is visualised and above this level structures within the nasal cavity make measurement difficult. At this level the width of both posterior choanae at maximum stenosis and the maximum width of the inferoposterior vomer are measured. The vomer is widened in most cases. In patients less than 8 years of age the mean vomer width is 2.8 mm and should not exceed 5.5 mm. The mean width of the posterior choanal airspace in the neonate is 6.7 mm, increasing to 8.6 mm at 6 years and 11.3 mm by age 16.

Heminasal Proboscis With Associated Microphthalmos and Encephalocele

Heminasal proboscis is a rare congenital malformation that presents complex management issues when associated with other craniofacial abnormalities. A newborn male, known to have a facial mass on prenatal ultrasonography, was delivered by planned induction at 37 weeks' gestation. He was intubated immediately because of anticipated respiratory difficulty. He had a right-sided proboscis, pedicled on the right medial canthal region. Additional airway evaluation identified a piriform aperture and choanal stenosis. Magnetic resonance imaging confirmed a hypoplastic orbit with aplastic optic nerve and a naso-orbito-ethmoidal encephalocele. Right upper and lower eyelid colobomas were present. The airway was initially stabilized with a tracheostomy. Beginning at the age of 10 weeks, he underwent several staged procedures to excise the encephalocele and to reconstruct the nose, orbit, eyelid, and lacrimal drainage system. The encephalocele was exposed via a bicoronal approach and frontal craniotomy. The dural defect was repaired with a pericranial flap. Nasal reconstruction provided an adequate nasal passage and tip after three staged procedures. Creation of a conjunctival flap prepared the right eye for later insertion of a prosthetic shell. The patient remained successfully decannulated 3 years after his last reconstructive procedure. Identification of all associated anomalies is important before initiating surgical repair. The presence of coexisting craniofacial abnormalities requires a multispecialty approach and coordination of surgical procedures.

Choanal Stenosis: An Unusual Late Complication of Radiation Therapy for Nasopharyngeal Carcinoma

Choanal stenosis, usually a congenital anomaly in children, recently has been recognized as a late complication of radiation therapy (RT) for nasopharyngeal carcinoma (NPC). We described the clinical history, preoperative evaluation, surgical management, and postoperative course of a case of acquired choanal stenosis after RT. The patient, a 39-year-old woman, presented with a history of NPC 16 years before presentation that had been successfully treated with RT On presentation, the patient complained of decreased nasal airflow. Bilateral choanal stenosis was confirmed per rigid nasal endoscopy. Transnasal endoscopic repair with mitomycin application was performed, and nasal stents were left in place for 6 weeks. Postoperative endoscopic examination showed patent choanae and a patent nasopharynx without stenosis. The patient continues to have good airflow 20 months postoperatively. Choanal stenosis can occur as an unusual complication of RT for NPC secondary to postradiation fibrosis. This is the first report of such a complication in the West.

後天性高度後鼻孔狭窄例に対する内視鏡下鼻内手術

A case report on acquired posterior choanal stenosis after nasal polypotomy is presented. A 84-year-old male was treated by transnasal endoscopic surgery for acquired bilateral choanal stenosis arising after nasal polypotomy performed in his youth. An intranasal silicone stent was placed to allow nasal breathing, to maintain the newly constructed lumen, and to avoid restenosis of the choana. No adverse postoperative complication occurred. Acquired posterior choanal stenosis, a rare complication after nasal polypotomy, can be successfully treated by transnasal endoscopic surgery.

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

Mutations in the human sonic hedgehog gene (SHH) are the most frequent cause of autosomal dominant inherited holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the developing forebrain into two separate hemispheres and ventricles. Here we report the clinical and molecular findings in five unrelated patients with HPE and their relatives with an identified SHH mutation. Three new and one previously reported SHH mutations were identified, a fifth proband was found to carry a reciprocal subtelomeric rearrangement involving the SHH locus in 7q36. An extremely wide intrafamilial phenotypic variability was observed, ranging from the classical phenotype with alobar HPE accompanied by typical severe craniofacial abnormalities to very mild clinical signs of choanal stenosis or solitary median maxillary central incisor (SMMCI) only. Two families were initially ascertained because of microcephaly in combination with developmental delay and/or mental retardation and SMMCI, the latter being a frequent finding in patients with an identified SHH mutation. In other affected family members a delay in speech acquisition and learning disabilities were the leading clinical signs. mutational analysis of the sonic hedgehog gene should not only be considered in patients presenting with the classical holoprosencephaly phenotype but also in those with two or more clinical signs of the wide phenotypic spectrum of associated abnormalities, especially in combination with a positive family history.

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial dominant autosomic HPE. The disease is genetically heterogeneous, but additional environmental agents also contribute to the etiology of HPE. In our cohort of 200 patients, 34 heterozygous mutations were identified, 24 of them being novel ones: 13 out of 17 in the Sonic hedgehog gene (SHH); 4 out of 7 in ZIC2; and 7 out of 8 in SIX3. The two mutations identified in TGIF have already been reported. Novel phenotypes associated with a mutation have been described, such as abnormalities of the pituitary gland and corpus callosum, colobomatous microphthalmia, choanal aperture stenosis, and isolated cleft lip. This study confirms the great genetic heterogeneity of the disease, the important phenotypic variability in HPE families, and the difficulty to establish genotype-phenotype correlations.

Endoscopic Views of Choanal Stenosis in Secondary Atrophic Rhinitis

Endoscopic Views of Choanal Stenosis in Secondary Atrophic Rhinitis

Choanal Atresia

The use of complementary and alternative medicine (CAM) is common among patients with chronic, long-standing nasal disease. Complications resulting from inappropriate CAM practices are sometimes reported, but serious complications such as choanal atresia and stenosis are rare. We report a case of choanal atresia and stenosis due to herbal drug (ie, chemical) cauterization of the nasal cavity in a 39-year-old man. We reviewed the literature on why patients previously given conventional treatment seek alternative therapies. The patient underwent surgical intervention to relieve choanal atresia and stenosis. The postoperative course was unremarkable, and follow-up for 1 year revealed no evidence of restenosis. Choanal atresia and stenosis resulting from CAM treatment are rare. Otolaryngologists should be aware of possible complications occurring in patients receiving such treatments.

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No...

Airway obstruction in children with congenital heart disease: assessment by flexible bronchoscopy.

We assessed the spectrum of airway disorders in children with congenital cardiac anomalies, and reviewed our experience in using flexible bronchoscopy for assessment of airway problems in this patient group. The clinical records, flexible bronchoscopic findings, and cardiac imaging results of pediatric cardiac patients who presented with either clinical or radiological signs of airway obstruction between 1992-1999 were reviewed. Flexible bronchoscopic assessment was performed with the patients under sedation and topical anesthesia, using one of two bronchoscopes, i.e., an Olympus BFN20 or Olympus BF3C20. Of a total of 52 patients, 33 had acyanotic cardiovascular lesions, the commonest being left-to-right shunts (61%), while 19 had cyanotic heart lesions, with right ventricular outflow obstruction being the commonest (63%). Twenty-seven patients had undergone either surgical or transcatheter interventions. The median age at bronchoscopic assessment was 6 months (range, 4 days to 6 years). None of the patients developed significant procedural complications. A definitive diagnosis was made in 48 (92%) patients, 8 of whom had abnormalities involving only the upper airways, 35 only the lower airways, and 5 both. Abnormalities of the upper airway included laryngomalacia (n = 6), subglottic stenosis (n = 3), pharyngeal collapse (n = 2), and 1 each of choanal stenosis and supraglottitis. Extrinsic compression was the commonest lower airway abnormality that was found in 27/40 patients (67%), with a predilection for the left main bronchus (18/27, 67%). The structures that caused extrinsic compression included dilated pulmonary arteries with or without left atrial dilation (n = 20), an anomalous aortic or pulmonary arterial course (n = 3), a dilated aorta (n = 1), and a shunt (n = 1), but were not obvious in 2 patients. Intrinsic lower airway abnormalities included bronchomalacia (n = 4), tracheal stenosis (n = 4), and one each of variant bronchial bifurcation and a pouch arising from the tracheal wall. Intraluminal mucus plugging of the lower airways occurred in the remaining 3 patients. Children with congenital heart disease are at risk of airway obstruction both before and after surgery. Flexible bronchoscopy, being safe and effective in diagnosing airway disorders in this patient group, should be considered as the first line of investigation.

Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case.

We report on a 11-year-old girl with bilateral choanal stenosis, hypothelia, hearing loss, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly. Only three individuals with choanal atresia from a consanguineous family have been reported. One of the patients also had hypoplastic nipples, hypotonia, and delay in speech development. Similar clinical features were seen in two children reported by Greenberg [1987: Am J Med Genet 28:931-934] and Wilson et al. [1998: Am J Med Genet 75:220-222]. They were prenatally exposed to methimazole because of maternal Graves disease. Neck fistulas and microcephaly noted in our patient were not previously reported as features of the syndrome or in the patients prenataly exposed to methimazole. Our patient and those reported by Qazi et al. [1982: Am J Med Genet 13:413-416] most probably have a rare syndrome characterized by this distinctive combination of symptoms. Prenatal exposure to methimazole can cause a phenocopy of the syndrome, which was probably the case in the patients reported by Greenberg and Wilson et al.

Absent Nasal Flaring in a Newborn With Bilateral Choanal Stenosis

To the Editor — Nasal flaring is one of the manifestations of respiratory distress in neonates. 1 Nasal flaring reduces nasal and total airway resistance, improving ventilation in neonates with respiratory distress. 2,3 Bilateral choanal atresia/stenosis is a life-threatening cause of respiratory distress in neonates. The diagnosis is often delayed, resulting from lack of any specific clinical finding suggestive of the diagnosis. Significant respiratory distress characterized by intense subcostal, intercostal, and suprasternal retractions was noticed in a newborn soon after birth. However, clinically evident nasal flaring was conspicuously absent, leading …

Acquired posterior choanal stenosis and atresia: Management of this unusual complication after radiotherapy for nasopharyngeal carcinoma

Purpose: To report on acquired posterior choanal stenosis and atresia after radiotherapy for nasopharyngeal carcinoma. Materials and Methods: Four patients with acquired bilateral choanal atresia and 2 with severe unilateral choanal stenosis in the posterior choanae were identified after treatment of nasopharyngeal carcinoma with radiotherapy. The mean age was 42 years (range, 29 to 48 years). Two patients had stage II, and 4 had stage III disease, according to Ho's classification. They all received a 66 Gy dose of external irradiation delivered to the nasopharynx, and a mean dose of 62.6 Gy to the neck. Five patients had an additional 20 Gy delivered to the parapharyngeal region, and 1 patient had intracavitatory brachytherapy of 18 Gy delivered to the nasopharynx. The mean onset of symptoms was 10.5 months (range, 2 to 40 months) postirradiation. All patients were treated by transnasal endoscopic resection. Merocel epsitaxis packing (Medtronic Xomed, Jacksonville, FL) was used to stent the nasal airway for 2 weeks postoperatively. Results: The mean follow-up was 16.2 months (range, 14 to 18 months) after surgery. Four patients (67%) were symptom-free. Two patients (33%) had unilateral restenosis in the postnasal space that required revision surgery and further nasal stenting for 2 weeks, and both were subsequently free from further restenosis. No adverse postoperative complication occurred. Conclusion: Acquired posterior choanal stenosis and atresia is an unusual long-term complication after radiotherapy that can be successfully treated with transnasal endoscopic resection. A 2-week Merocel nasal stent is recommended to prevent restenosis in the posterior choanae. (Am J Otolaryngol 2001;22:225-229. Copyright © 2001 by W.B. Saunders Company)

Imaging studies in the diagnostic workup of neonatal nasal obstruction.

Twelve neonates presenting with nasal obstruction after birth were evaluated by imaging studies for diagnostic reasons. Four groups were recognized: Group I: choanal atresia (n = 5) and choanal stenosis (n = 1); Group II: congenital nasal pyriform aperture stenosis (CNPAS) (n = 3) and holoprosencephaly (n = 1); Group III: nasolacrimal duct mucocele (n = 1); Group IV: nasal hypoplasia (n = 1). Associated anomalies were found in eight patients. Four patients with choanal atresia showed manifestations of the CHARGE (coloboma, congenital heart defect, atretic choanae, retarded physical and neuromotor development associated with central nervous system anomalies, genital hypoplasia, and ear anomaly and/or deafness) association. In the fifth patient with choanal atresia, the diagnosis of amnion disruption sequence was made. One patient with CNPAS had a solitary maxillary central incisor (SMCI), a mild form of holoprosencephaly. Besides proboscis and synophthalmos, SMCI was also present in the holoprosencephaly case. The patient with severe nasal hypoplasia had warfarin embryopathy. This review emphasizes the need for performing imaging studies in the diagnostic workup of neonates born with nasal obstruction.