Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.

Holoprosencephaly is a complex human brain malformation resulting from incomplete cleavage of the prosencephalon into both hemispheres. Congenital nasal pyriform aperture stenosis (CNPAS) is sometimes found in patients with mild forms of holoprosencephaly. Surgical treatment is required. Low-invasive surgical approaches involve balloon dilation of the pyriform opening. We present the case of an 8-day-old girl diagnosed with holoprosencephaly, CNPAS, and the presence of a solitary median maxillary central incisor. Once examined by neonatologist, geneticist, pneumologist, otolaryngologist, and pediatric dentist, a combined otolaryngological-orthodontic approach was used. The obstruction of the right nasal cavity was treated by widening the nasal cavities and stabilizing them with a balloon dilation technique. After surgery, the respiratory space was increased by applying a neonatal palatal expander plate (NPEP) considering the palatal deformity: ogival shaped, anterior vertex growth direction, reduction of transverse diameters. The NPEP promoted distraction of the median palatine suture and assisted the nasal dilation. Therefore, after the insertion of NPEP, the physiological sucking-swallowing mechanism was activated. In infants with CNPAS, NPEP can be useful to ensure the safe stability of nasal dilation. A multidisciplinary approach is fundamental. In our experience, the close collaboration between an otolaryngologist and orthodontist is essential for the management of the patient with CNPAS.

[A rare cause of respiratory distress in the newborn]. / Une cause rare de détresse respiratoire du nouveau-né.

Respiratory distress in the newborn represents a real medical challenge from both the etiological and therapeutic points of view. The causes of respiratory distress are usually divided into two categories: upper and lower airway impairments, with the glottis as the reference level. Concerning the upper airway impairment in the newborn, nasal malformations are one of the main causes, choanal atresia in particular and more rarely congenital nasal pyriform aperture stenosis. The latter can be symptomatic in a variable degree, depending on the severity of the obstruction. Moreover, the potential syndromic character with the association of other malformations, such as single median incisor or intracranial midline anomalies, should systematically lead to the realisation of a cerebral MRI. Several lines of treatment are available depending on the clinical response ranging from conservative treatment to surgical intervention.

La détresse respiratoire du nouveau-né représente un véritable enjeu médical tant du point de vue étiologique que thérapeutique. On regroupe habituellement en deux catégories les causes de détresse respiratoire : les atteintes hautes et les atteintes basses avec, comme point de référence, le plan glottique. Concernant les atteintes hautes chez le nouveau-né, les malformations nasales sont une des principales causes, notamment l'atrésie des choanes et, plus rarement, la sténose congénitale des orifices piriformes. Cette dernière peut être symptomatique de manière variable en fonction de la gravité. De plus, le caractère syndromique potentiel avec l'association à d'autres malformations, comme l'incisive médiane unique ou des anomalies intracrâniennes de la ligne médiane, doivent systématiquement conduire à la réalisation d'une IRM cérébrale. Plusieurs lignes de traitement sont disponibles en fonction de la réponse clinique allant d'un traitement conservateur jusqu'à une intervention chirurgicale.

Congenital Nasal Pyriform Aperture Stenosis: Successful Management of Restenosis After Primary Surgery by Stent Placement.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare anomaly causing respiratory distress in newborns. While the primary surgical technique is well established, the timing of the removal of the stents and the management of restenosis remain a matter of debate. We report a case of a female newborn affected by CNPAS with the recurrence of respiratory distress after primary surgery due to the early removal of nasal stents, causing an overgrowth of granulation tissue. This report notes that restenosis was successfully managed by repeating the procedure over a 14-day period, with soft polyvinyl chloride uncuffed tracheal tubes acting as nasal stents.

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.

Congenital pyriform aperture stenosis: Ten years experience.

INTRODUCTION: Congenital nasal pyriform aperture stenosis (CNPAS) is an uncommon malformation and a rare cause of respiratory distress in neonates that may require early surgical intervention. The aim of this study is to report our experience in patients operated for CNPAS and present characteristics of this population. MATERIAL AND METHODS: A retrospective, analytical cohort study was conducted of patients who underwent surgical treatment for CNPAS in the Hospital de Pediatría Garrahan from May 2008 to May 2018. RESULTS: Nineteen patients underwent surgical treatment; 47.36% had some associated genetic syndrome. The surgical approach was sublabial. Follow-up was more than 45 days in 14 patients, 9 did not require additional treatment, and the remaining 5 required further surgical and/or medical treatment. Short-term post-surgical outcome was good in 85.7%. CONCLUSIONS: Better post-surgical results were obtained in patients in whom endonasal stenting was not used and who did not present associated craniofacial malformations.

Estenosis congénita de apertura piriforme: diez años de experiencia / Congenital pyriform aperture stenosis: ten years experience

Introducción: La estenosis congénita de la apertura piriforme (ECAP) es una malformación infrecuente y una causa rara de distress respiratorio en neonatos que puede requerir de intervención quirúrgica temprana. El objetivo del estudio es reportar nuestra experiencia en pacientes operados por ECAP y las características de la población.Material y métodosPacientes operados de ECAP desde mayo del 2008 hasta mayo del 2018 en el Hospital de Pediatría Garrahan. Estudio de cohorte analítico retrospectivo.ResultadosSe intervinieron quirúrgicamente 19 pacientes. El 47,36% presentaba algún síndrome genético asociado. El abordaje quirúrgico fue por vía sublabial. Se logró el seguimiento por más de 45 días en 14 pacientes, 9 no requirieron tratamiento adicional, y los 5 restantes requirieron otro tratamiento quirúrgico y/o médico. El éxito global posquirúrgico en primera instancia fue del 85,7%.ConclusionesSe obtuvieron mejores resultados posquirúrgicos en los pacientes en que no se utilizaron tutores endonasales y que no presentaban malformaciones craneofaciales asociadas. (AU)

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an uncommon malformation and a rare cause of respiratory distress in neonates that may require early surgical intervention.The aim of this study is to report our experience in patients operated for CNPAS and present characteristics of this population.Material and methodsA retrospective, analytical cohort study was conducted of patients who underwent surgical treatment for CNPAS in the Hospital de Pediatría Garrahan from May 2008 to May 2018.ResultsNineteen patients underwent surgical treatment; 47.36% had some associated genetic syndrome. The surgical approach was sublabial. Follow-up was more than 45 days in 14 patients, 9 did not require additional treatment, and the remaining 5 required further surgical and/or medical treatment. Short-term post-surgical outcome was good in 85.7%.ConclusionsBetter post-surgical results were obtained in patients in whom endonasal stenting was not used and who did not present associated craniofacial malformations. (AU)

Patient selection in congenital pyriform aperture stenosis repair - 14 year experience and systematic review of literature.

PURPOSE: Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of respiratory distress in neonates that may necessitate early surgical intervention. Restenosis and granulation are postoperative concerns that may prompt a return to the operating room. Reoperation places children at increased risk of perioperative complications and prolonged hospital stays. We are presenting a review of our institutional experience of 16 patients treated for CNPAS over a 14 year period and a systematic review with pooled data analysis to determine the effect of craniofacial and neurologic anomalies on surgical success. METHODS: Retrospective chart review of all cases of CNPAS treated at our tertiary children's hospital between 1999 and 2013. Systematic review of English language literature was conducted adhering to the PRISMA statement to determine the effect of neurologic anomalies and craniofacial dysmorphism (CFD) on surgical failure for CNPAS treatment. Univariate and exact multiple logistic regression were used for analysis of an individual patient data analysis. RESULTS: 10 patients had surgery and 6 were treated medically. Average pyriform apertures were 5.71±1.72mm for the surgical group and 4.83±1.26mm for the medical group (p=0.38). 31% had neurological impairments. 31% had craniofacial dysmorphisms (CFD). 2 patients developed restenosis and 1 required tracheotomy. Both of these patients had other CFDs. Literature review captured 63 surgical patients and 9 failures in 6 series of CNPAS. 4.6% of patients without CFD and 36.8% of patients with CFD required surgical revision (p=0.023, OR13.8). CONCLUSION: When repairing CNPAS, co-morbidities must be considered. Impaired respiration, central neurologic deficits and extensive craniofacial anomalies may require additional surgeries or an alternative approach.

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.

Congenital nasal pyriform aperture stenosis: A rare cause of nasal airway obstruction in a neonate.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management. We present a case of CNPAS, to highlight the importance of recognizing the classic signs of CNPAS on cross-sectional imaging.