Congenital nasal pyriform aperture stenosis; our experience of 34 cases.

OBJECTIVES: To study our population of patients with congenital nasal pyriform aperture stenosis (CNPAS) in terms of incidence and socioeconomic status; the effect of pyriform aperture size, gestational age, birth weight, and whether congenital abnormalities are associated with surgical requirement. METHODOLOGY: Retrospective case note review of all patients treated for CNPAS at a single tertiary paediatric referral site was undertaken. Diagnosis was made on the basis of a pyriform aperture of <11 mm on CT scanning; patient demographics were collected to explore risk factors for surgery and surgical outcomes. RESULTS: 34 patients were included in the series, 28 (84%) of whom underwent surgery. 58.8% of subjects had an associated mega central incisor. A smaller pyriform aperture size was seen in neonates requiring surgery (4.87 mm ± 1.24 mm vs 6.55 mm ± 1.41 mm, p = 0.031). There was no difference in gestational age in neonates requiring surgery (p = 0.074). Requirement for surgery was not associated with co-existing congenital anomalies (p = 0.297) or lower birth weight (p = 0.859). Low socioeconomic status was not significantly associated with requiring surgery but a potential link between CNPAS and deprivation was identified (p = 0.0583). CONCLUSION: These results suggest that a pyriform aperture of less than 6 mm requires surgical intervention. Associated birth anomalies add additional management considerations but in this cohort were not associated with increased need for surgery. A potential association between CNPAS and low socioeconomic status was identified.

Re-thinking congenital piriform aperture stenosis: Modern imaging demonstrates narrowing of the full nasal cavity length.

OBJECTIVE: Measure the width of the nasal cavity in cases of piriform aperture stenosis using computerised tomography scans. METHODS: Retrospective study performed at a paediatric tertiary referral centre in Australia. Comparison nasal cavity widths (measured on computerised tomography scans in the axial plane) at the piriform aperture, choana and points 25, 50 and 75% along the length of nasal cavity, between cases with piriform aperture stenosis and controls. RESULTS: In cases of piriform aperture stenosis the piriform aperture along with the nasal cavity is statistically significantly narrower than controls, measured at 25, 50 and 75% along the distance between the piriform aperture and the choana. CONCLUSION: This modern imaging review has illustrated the need for a change in the treatment paradigm for neonates with this condition, suggesting the need for further investigation of techniques that treat narrowing beyond the aperture.

Midnasal stenosis in adults with normative values.

BACKGROUND: Congenital midnasal stenosis has previously been described as a cause of nasal obstruction in infants, and conservative and interventional treatments have been suggested. However, midnasal stenosis in adults has not been reported and related normative measurements have not been studied. METHODS: Three adult patients presented with nasal obstruction and, based on examination and radiological findings, were diagnosed with midnasal stenosis. Anatomical measurements were studied in axial and coronal computed tomography scans, and compared with findings for 161 healthy individuals. RESULTS: Anatomical measurements showed that the endonasal cavity was larger in males than females. The midnasal region was found to be constricted in patients compared to healthy controls. CONCLUSION: This is the first study to report on midnasal stenosis in adults and to define normative anatomical measurements in adults. In patients presenting with nasal obstruction, midnasal stenosis should be suspected during endoscopic visualisation of medially located middle turbinates and uncinate processes in nasal cavities. A definitive diagnosis of midnasal stenosis can be made by examining paranasal sinus computed tomography scans. Endoscopic middle turbinectomy, complete uncinectomy, mega maxillary antrostomy and partial anterior ethmoidectomy have been suggested to relieve midnasal stenosis.

Nasal oral fistula revealing Langerhans´ cell histiocytosis in adult patient: case report.

Langerhans cell histiocytosis (LCH) is a rare systemic disease caused by proliferation of mature histiocytes; its association to histiocyto fibroma is rarely reported. It rarely affects adults. We report a case of systemic LCH, in an adult patient with osteolytic lesion causing a fistula between the left nasal cavity and hard palate, involving the bone, lung, lymph node and associated to multiple histiocyto fibroma. The patient was operating for a fistula, and he was treated by chemotherapy and corticosteroids. Langerhans´ cell histiocytosis is a rare case, especially in adult patient. The diagnosis was based on histological and immunohistochemical analyses. This patient was treated by steroids and chemotherapy.

Balloon dilation and rapid maxillary expansion: a novel combination treatment for congenital nasal pyriform aperture stenosis in an infant.

BACKGROUND: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that may occur alone or as part of a multi-formative syndrome. Management remains difficult. There is no specific treatment protocol. Traditional surgery would be anachronistic; a non-invasive or minimally invasive therapeutic option is required. However, the rarity of the disease and the infantile context render randomised clinical trials difficult. CASE PRESENTATION: We present the case of a one-month-old Caucasian boy with CNPAS. He presented to the Emergency Department of the Bambino Gesù Pediatric Hospital with nasal obstruction, noisy breathing, feeding difficulties, and suspected sleep apnoea. During hospitalisation, he underwent overnight pulse oximetry, airway endoscopy, and maxillofacial computed tomography (CT); the final diagnosis was CNPAS with moderate obstructive sleep apnoea syndrome. We successfully treated the patient using an innovative strategy that involved collaboration between ear-nose-and-throat surgeons and orthodontists. CONCLUSIONS: A combination of minimally invasive balloon surgery and placement of a palatal device may successfully treat CNPAS; it may also treat other types of nasal bone stenosis. Future studies may allow the development of practice consensus treatment strategies.

Rhinogenic and sinus headache - Literature review.

BACKGROUND: Headache is a common, yet challenging symptom to evaluate given its wide range of clinical presentations and different etiologies. For centuries, conceptual understanding of headache causation has been attributed to anatomic abnormalities of the nose and paranasal sinuses. METHODS: Structured literature review. RESULTS: The number of cases, categorized as migraines or other primary headaches, misdiagnosed as a "sinus headache" is high in the literature, ranging from 50 to 80%. The potential mechanisms for rhinogenic headaches were classically described as pain secondary to prolonged mucosal contact points, hypoxia in the paranasal sinuses secondary to poor ventilation, or pressure caused by the growth of nasal polyps. Additionally, other mechanisms were described and are still being studied. Corrective surgery for mucosal contact points in the nasal cavity is deemed necessary for relieving the headache, although patient outcomes are variable. CONCLUSION: Delay in proper diagnosis and treatment negatively impact patient quality of life. Most cases of "sinus headache" or "rhinogenic headache" seen in clinical practice are in fact misdiagnosed as either primary headaches or migraines. Because of increased misdiagnoses, Otolaryngologists should establish a direct and precise diagnosis congruent with a chief complaint being a headache. Vital information such as a good clinical history, well-performed nasal endoscopy, and occasional CT scan may decrease misdiagnosis probability.

Pyriform Aperture Enlargement for Internal Nasal Valve Obstruction in Adults: Systematic Review and Surgical Classification.

OBJECTIVE: Pyriform aperture enlargement or "pyriplasty" is an uncommonly used procedure for internal nasal valve obstruction in adults besides functional rhinoplasty, inferior turbinate reduction, and septoplasty. A systematic review of the literature was performed to analyze current surgical techniques, their suggested indications, and their related outcome in terms of success and complications. DATA SOURCES: The search was performed on PubMed, EMBASE, SCOPUS, and Cochrane databases. REVIEW METHODS: The systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Studies on congenital, traumatic, tumoral, or infectious internal nasal valve obstruction were excluded. RESULTS: Eight articles were finally included. Three types of pyriplasty have been described according to the level of bone resection: low-level pyriplasty through the sublabial approach, mid-level pyriplasty through endonasal approach, and extended pyriplasty through either approach. Indications included (1) clinically or radiologically narrow pyriform aperture, (2) previously unsuccessful internal nasal valve surgery, (3) lateral nasal wall collapse, and (4) inferior turbinate's head hypertrophy. Subjective improvement of nasal obstruction was reported in these 4 indications. No major complication was encountered. CONCLUSION: Pyriplasty for nasal obstruction is a simple and safe procedure that could be effective in selected cases. However, level of evidence is currently low, and success rate may vary with indications and pyriplasty techniques. Moreover, there is no clear definition of normal pyriform aperture dimensions to date. Further prospective studies are thereby necessary and should include radiological analysis of pyriform aperture and validated nasal obstruction measurement tools.

Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations.

BACKGROUND: The extracellular matrix (ECM) is a fundamental component of multicellular organisms that orchestrates developmental processes and controls cell and tissue organization. We previously identified the novel ECM protein SNED1 as a promoter of breast cancer metastasis and showed that its level of expression negatively correlated with breast cancer patient survival. Here, we sought to identify the roles of SNED1 during murine development. RESULTS: We generated two novel Sned1 knockout mouse strains and showed that Sned1 is essential since homozygous ablation of the gene led to early neonatal lethality. Phenotypic analysis of the surviving knockout mice revealed a role for SNED1 in the development of craniofacial and skeletal structures since Sned1 knockout resulted in growth defects, nasal cavity occlusion, and craniofacial malformations. Sned1 is widely expressed in embryos, notably by cell populations undergoing epithelial-to-mesenchymal transition, such as the neural crest cells. We further show that mice with a neural-crest-cell-specific deletion of Sned1 survive, but display facial anomalies partly phenocopying the global knockout mice. CONCLUSIONS: Our results demonstrate requisite roles for SNED1 during development and neonatal survival. Importantly, the deletion of 2q37.3 in humans, a region that includes the SNED1 locus, has been associated with facial dysmorphism and short stature.

Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia.

PURPOSE: We hypothesized that the ontogeny of unilateral isolated choanal atresia involves a field defect manifesting as ipsilateral mandibular condylar hypoplasia. The topic is important because the mechanism of the unilateral isolated choanal atresia is unknown. MATERIALS AND METHODS: Retrospective self-controlled case series. We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal atresia. We studied their high-resolution computed tomographic scans. Two otolaryngologists measured the largest cross-sectional area of the mandibular condyle in the axial plane perpendicular to the posterior border of each mandibular ramus independently. Statistical significance and inter-rater agreement were calculated with paired Wilcoxon rank sum test and Spearman's non-parametric correlation coefficient respectively. RESULTS: Cross-sectional areas of the condyles ipsilateral to the choanal atresia were not statistically different than those of the contralateral condyle (P = 0.27). Inter-observer agreement of condyle areas was excellent: Spearman's r = 0.85 on the right and r = 0.94 on the left. CONCLUSIONS: In this cohort of children with the rarity of isolated non-syndromic unilateral congenital choanal atresia, no associated mandibular condyle hypoplasia was found. The data suggest that the underlying ontogeny was unlikely attributable to a field defect.

Giant nasal granuloma gravidarum.

Nasal granuloma gravidarum usually presents as a small vascular lesion on the septum or turbinates during pregnancy. We present a case of a giant nasal granuloma gravidarum and its management.

Intranasal glial heterotopia in a male infant: A case report.

RATIONALE: Nasal glial heterotopia is a rare type of neoplasm consisting of meningothelial and/or neuroglial elements. PATIENT CONCERNS: A 2-month-old male was evaluated for treatment of a congenital mass in the right nasal cavity near the pharynx. DIAGNOSES: The patient was preoperatively diagnosed with a congenital intranasal neoplasm. INTERVENTIONS: Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia. Histological examination of the resected tissue provided a diagnosis of intranasal glial heterotopia. OUTCOMES: The surgical outcome was good, with no surgical site infection. After 1 year of follow-up, the boy was asymptomatic with no recurrence. LESSONS: Excision of a nasopharyngeal mass via nasal endoscopy resulted in no recurrence during 1 year of follow-up. Before any surgical treatment for suspected glial heterotopia, the mass should be differentiated clinically and radiologically from an encephalocele to prevent the risk of cerebrospinal fluid leakage and meningitis.

Congenital midnasal stenosis: Conservative management.

INTRODUCTION: Congenital midnasal stenosis (MNS) is an extremely rare disease which may be life threatening, and shows difficulty in diagnosis and management. This case series summarizes superiority of using intranasal mometasone furoate spray (IMS) and continuous positive airway pressure (CPAP) to treat nasal obstruction in neonates with MNS. METHODS: This study reviewed six consecutive cases of MNS. RESULTS: Three patients were treated with IMS and CPAP. Two patients were treated with endoscopic balloon dilatation without stenting, followed by IMS and CPAP due to persisting nasal obstruction after the operation. One patient was treated with endoscopic balloon dilatation without stenting alone. CONCLUSION: This study is the first to review the use of CPAP and IMS as an effective therapy for some patients with MNS. It suggests that conservative management with CPAP and IMS may be an alternative therapeutic option to surgery.

Unique air inclusions within the nasopalatine duct indicating its presence radiographically: a case presentation.

The anterior maxilla is characterized by the nasopalatine canal that originates bilaterally from the anterior nasal floor, subsequently fuses, and terminates at the incisive foramen in the anterior palate. Embryologically, this structure forms within the primary palate, and contains the neurovascular bundle, but also continuous epithelialized bands. The latter, termed nasopalatine ducts, usually degenerate and/or obliterate before birth. However, in some individuals, the ducts may remain partially or completely patent. The present case report describes for the first time in the literature a rare finding of air inclusions within the anatomical area of the nasopalatine canal indicating the presence of a nasopalatine duct as visualized with cone beam computed tomography. The patient was asymptomatic and the radiographic findings were seen incidentally. An endoscopic inspection of the anterior nasal cavities confirmed the presence of the nasal openings of the partially patent nasopalatine ducts.

Clinical and imaging evaluation of Congenital Midnasal Stenosis.

OBJECTIVES: To illustrate the clinical and radiological presentation of a rare etiology of nasal obstruction in neonates, midnasal stenosis (MNS), including a comparison of nasal dimensions with those of normal infants. METHODS: We retrospectively reviewed medical charts and computerized tomography (CT) imaging of neonates with nasal obstruction diagnosed as stenosis in the midnasal area in a tertiary pediatric medical center. MNS was defined clinically by inability to visualize the middle turbinate with an endoscope despite the absence of stenosis of the anterior aperture or any gross septal deviation. CT measurements of the midnasal width were taken by an experienced neuroradiologist. We compared widths between the bony inferior turbinate to the bony septum in the narrowest area of symptomatic patients, to widths in a control group of asymptomatic children. RESULTS: Nine neonates from birth to three months old presenting with nasal obstruction, severe stertor, and blocked nasal passage at the midnasal level in endoscopic examination, were diagnosed with MNS. 6/9 had CT scans. Four had isolated unilateral stenosis, two unilateral MNS and contralateral choanal atresia, and three bilateral MNS. All patients were managed conservatively, initially with nasal saline irrigation and local steroids and topical antibiotics; Median time to resolution of symptoms was 14 days. When comparing the dimensions at the midnasal narrowest area of the stenotic group with a control group of 139 healthy children, the median bony width was 1.7 mm vs. 3.2 mm, respectively (p < 0.00001). Average dimensions according to age groups until the age of 12 months are given. CONCLUSION: In neonates with nasal obstruction, when choanal atresia and pyriform aperture stenosis are excluded, stenosis of the midnasal area should be considered. Most of these neonates can be managed conservatively. LEVEL OF EVIDENCE: 4.

Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients.

BACKGROUND: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of upper airway obstruction in neonates. It can occur either associated with a solitary median maxillary central incisor (SMMCI) in 40-75% of cases or as an isolated morphogenic variant. Brain MRI is routinely performed in patients with CNPAS with a SCMMI due to the concomitant risks of intracranial midline defects of the hypothalamic-pituitary axis (HPA), holoprosencephaly, or associated endocrine dysfunction. However, the role of routine brain imaging and endocrinologic evaluation in patients with isolated CNPAS is not frequently studied given the assumption that isolated CNPAS is unlikely to be associated with any intracranial findings. OBJECTIVES: To evaluate intracranial findings on dual brain MRI imaging in isolated CNPAS patients and to determine if any radiologic, endocrinologic, or genetic abnormalities existed in these patients. METHODS: We performed a single-institution retrospective review and case series of patients with isolated CNPAS from 2006 to 2019. Findings from dual brain MRI imaging, cytogenetic and karyotype testing, and formal endocrinologic testing were analyzed for each patient and compared to reported findings in isolated CNPAS patients within the literature. RESULTS: From 2006 to 2019, 16/29 patients were identified at our institution with isolated CNPAS. Inpatient otolaryngologic consultation, CT, and brain MRI imaging was obtained after a mean postnatal age of 3.21 days, 13.5 days, and 35.91 days, respectively. Dual brain MRI imaging was obtained in 12/16 (75%) patients. In our patients, abnormal MRI findings included hypothalamic hamartoma, pars intermedius cyst, and grades 1 and 4 germinal matrix hemorrhages. No holoprosencephaly was found in any patient. Genetic testing was performed on 10/16 (62.5%) patients. Karyotyping was normal in all patients and microarray testing was abnormal in 2/10 patients that represented a 2p16.3 deletion in one patient and a 7q36 deletion causing an unbalanced translocation mutation of the Sonic Hedgehog gene in the second patient. In the latter patient, a hypothalamic hamartoma and panhypopituitarism was found. Endocrine evaluation was performed in 5 patients and was normal in 3/5 patients. CONCLUSIONS: Our case series of isolated CNPAS patients identified multiple abnormalities on radiologic, genetic, and endocrine testing; one of which that involved a defect of the HPA with panhypopituitarism resulting from a hypothalamic hamartoma. Based upon our findings, dedicated brain MRI imaging, endocrinologic, and genetic testing, should likely be considered for any newly diagnosed, isolated CNPAS patient given the uncommon but potential risk for associated intracranial abnormalities.

Congenital nasal pyriform aperture stenosis: Analysis of twenty cases at a single institution.

OBJECTIVES: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal respiratory distress that is difficult to treat. The primary objective of this study was to identify factors that predict the need for initial and revision surgery for CNAPS. The secondary objective is to identify risk factors in maternal history associated with the development of CNPAS. METHODS: Infants with CNPAS between 2010 and 2017 were identified by ICD- 9 and 10 codes. Demographics, maternal history, anatomic features on imaging and medical and/or surgical management were reviewed. Frequencies, means and standard deviations were calculated. A p-value <.05 was considered significant. RESULTS: Twenty infants were included. All underwent flexible nasal endoscopy with inability to pass the scope in either nostril in 65% of infants. Nineteen had a CT scan and 13 had a MRI with midline defects in 76.3% and 53.8%, respectively. Solitary central mega-incisor was present in 65%. Half underwent surgical intervention at a mean age of 74.8 days, with 90% requiring revision surgery. There was no difference in pyriform aperture distance in the surgical and non-surgical patient subgroups (5.4 mm and 5.2 mm, p = .6 respectively). No specific variables were predictive of need for initial or revision surgery. Maternal diabetes mellitus (MDM) was found in 55% of mothers of infants with CNPAS. CONCLUSION: Pyriform aperture distance was not a predictor of surgical intervention. MRI should be considered in all infants with CNPAS as the rate of intracranial complications is high. MDM may be a risk factor for CNPAS.

Estesioneuroblastoma: reporte de caso y revisión bibliográfica / Esthesioneuroblastoma: case report and review

Resumen El estesioneuroblastoma (ENB), también conocido como neuroblastoma olfatorio, es una neoplasia maligna rara de la bóveda nasal que se cree que surge de las células receptoras neurosensoriales en el epitelio olfatorio. El ENB representa el 3% de todos los tumores nasales. Los tratamientos para ENB incluyen cirugía, radioterapia y/o quimioterapia, aunque a veces, es difícil lograr un tratamiento radical utilizando estas estrategias, ya que la mayoría de los pacientes se diagnostican en una etapa avanzada. Presentamos el caso de un varón de 46 años a quien se le diagnosticó ENB en el año 2016. Fue tratado inicialmente con resección endoscópica nasal, seguido de una craneotomía bifrontal. Posteriormente, recibió radioterapia adyuvante. Actualmente, su seguimiento a 3 años no muestra evidencia de metástasis locales, regionales o distantes, ni recurrencia.

Abstract Esthesioneuroblastoma (ENB), also known as olfactory neuroblastoma, is a rare malignant neoplasm of the nasal vault that is believed to arise from neurosensory receptor cells in the olfactory epithelium. ENB accounts for 3% of all nasal tumors. The treatments for ENB include surgery, radiotherapy and/or chemotherapy, though sometimes, it is difficult to achieve radical treatment using these strategies as most patients are diagnosed at a late stage. We present a case of a 46-year old male who had been diagnosed with ENB in 2016. He was initially treated with nasal endoscopic resection, followed by a bifrontal craniotomy. Afterwards, he received adjuvant radiotherapy. Currently, his 3-year follow up show no evidence of local, regional o distant metastasis, nor recurrence.

Nasal airway obstruction: Prevalence and anatomic contributors.

Surgical treatments for nasal airway obstruction (NAO) are commonly offered as part of otolaryngology practice. Anatomic causes include septal deviation, inferior turbinate hypertrophy, and nasal valve collapse (NVC). This study was performed to determine the prevalence of anatomic contributors to NAO. A total of 1,906 patients with sinonasal complaints were surveyed by 50 otolaryngologists in varying U.S. geographic regions. Patients were first evaluated using the Nasal Obstruction Symptom Evaluation (NOSE) instrument to assess the NAO symptoms and their severity. Physicians then examined patients for the presence of the three anatomic contributors. Presence of septal deviation and turbinate hypertrophy was assessed through an internal nasal exam with direct or endoscopic visualization based on the physician's standard methodology for diagnosis. Presence of NVC was determined by the modified Cottle maneuver. Among all patients surveyed, prevalence was 67% for NVC, 76% for septal deviation, and 72% for inferior turbinate hypertrophy. We found that 64% of the patients (n = 1,211) had severe/extreme NOSE scores (≥55), representing the most likely nasal obstruction candidates for intervention. In these patients, the prevalence of NVC, septal deviation, and inferior turbinate hypertrophy was 73, 80, and 77%, respectively. Eighty-two percent of the 236 patients with severe/extreme NOSE scores who reported prior septoplasty and/or inferior turbinate reduction had NVC. Our study revealed a comparable prevalence of all three anatomic contributors across all patients and the subset with severe/extreme NOSE scores, highlighting the importance of evaluating the lateral nasal wall as a component of NAO treatment strategy.

Long-term outcome of permanent tracheostomy in 15 dogs with severe laryngeal collapse secondary to brachycephalic airway obstructive syndrome.

OBJECTIVE: To report the long-term outcome of permanent tracheostomy for the management of severe laryngeal collapse secondary to brachycephalic airway obstructive syndrome. STUDY DESIGN: Retrospective case series. ANIMALS: Fifteen brachycephalic dogs with severe laryngeal collapse treated with permanent tracheostomy. METHODS: Follow-up data were obtained from medical records or via telephone conversation with the owners. The Kaplan-Meier estimator was used to calculate median survival time. Death was classified as related or unrelated to tracheostomy surgery. Complications were classified as major when they were life-threatening or required revision surgery. Owners were asked to classify the postoperative quality of life as improved, unchanged, or worse and the management of the stoma as simple or demanding. RESULTS: The median survival time was 100 days. Major complications were diagnosed in 12 of 15 (80%) dogs, resulting in death in 8 (median survival time 15 days) and revision surgery in 4 dogs. Seven of 15 (47%) dogs died of unrelated causes or were alive at the end of the study (median survival time 1982 days). The postoperative quality of life of 9 dogs was judged as markedly improved. Stoma management was defined as simple in 8 dogs and demanding in 4. CONCLUSION: Permanent tracheostomy was associated with a high risk of complications and postoperative death in brachycephalic dogs. However, long-term survival (exceeding 5 years) with a good quality of life was documented in 5 of 15 dogs. CLINICAL SIGNIFICANCE: Permanent tracheostomy is a suitable salvage option in brachycephalic dogs with severe laryngeal collapse that did not improve following more conservative surgeries.