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.].

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.

[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.

Atresia de coana unilateral: reporte de un caso pediátrico / Unilateral coana atresia. A pediatric case report

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7 años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinicallypresents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches.A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

[Unilateral coana atresia. A pediatric case report]. / Atresia de coana unilateral: reporte de un caso pediátrico.

Choanal atresia is characterized by obliteration of the posterior nasal opening. It is the most common congenital anomaly of the nasal passages. It has an incidence of 1 in 5000 to 7000 newborns; predominantly female. It can occur in isolation or in association with other syndromes such as CHARGE (coloboma [C], cardiac malformations [H], choanal atresia [A], psychomotor and/or growth retardation [R], genital hypoplasia [G], atrial malformations and/or deafness [E]. Clinically presents nasal obstruction, cyanosis and respiratory distress from birth when bilateral, unilateral atresias are characterized by nasal ventilatory insufficiency and unilateral rhinorrhea, which may go unnoticed. Diagnosis is made by endoscopy and imaging tests. Treatment is surgical, with different techniques and approaches. A 7-year-old male patient is presented with unilateral atresia of the right choana with microendoscopic resolution, placement of an external tutor, with good resolution.

La atresia de coanas se caracteriza por la obliteración de la abertura nasal posterior. Es la anomalía congénita más frecuente de las fosas nasales. Tiene una incidencia de 1 cada 5000 a 7000 neonatos, con predominio en el sexo femenino. Puede presentarse en forma aislada o asociada a otros síndromes como el CHARGE (coloboma [C], malformaciones cardíacas [H], atresia de coanas [A], retraso psicomotor y/o en el crecimiento [R], hipoplasia de genitales [G], malformaciones auriculares y/o sordera [E, por su sigla en inglés]). Las manifestaciones clínicas son la obstrucción nasal, cianosis y dificultad respiratoria desde el nacimiento cuando es bilateral. Las atresias unilaterales se caracterizan por insuficiencia ventilatoria nasal y rinorrea unilateral, y pueden pasar inadvertidas. El diagnóstico se realiza mediante endoscopia y estudios por imágenes. El tratamiento es quirúrgico; existen diferentes técnicas y vías de abordaje. Se presenta el caso de un paciente masculino de 7años con atresia unilateral de coana derecha con resolución microendoscópica, colocación de tutor externo, con buena resolución.

Nasal Obstruction in the Infant.

Neonatal nasal obstruction is common in both the hospital and clinic settings. Causes can range from rhinitis to congenital masses, with a wide variety of congenital nasal masses described. A complete history and physical examination are necessary for correct diagnosis and management. Arhinia and bilateral choanal atresia will present with complete obstruction leading to forced mouth breathing. Partial obstruction will require assessment of nasal patency with possible nasal endoscopy and imaging. Medical and surgical options for treatment are discussed.

Unilateral Choanal Atresia: Indications of Long-Term Olfactory Deficits and Volumetric Brain Changes Postsurgically.

BACKGROUND: Very few studies have investigated whether unilateral choanal atresia is associated with permanent olfactory deficits. OBJECTIVE: This study aimed to evaluate the olfactory performance of patients with unilateral choanal atresia postsurgically. METHODS: Three patients with unilateral atresia were examined in terms of olfactory performance with the Sniffin' Sticks test (odor identification, threshold, and discrimination), size of the olfactory bulb, and volumetric brain changes. RESULTS: All patients demonstrated significantly lower olfactory performance in terms of odor threshold on the same side with the choanal atresia. Grey matter reductions were found ipsilaterally in the hippocampus. CONCLUSIONS: This pilot study indicates that persistent olfactory deficits and volumetric brain changes are present in patients with unilateral choanal atresia.

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

Chromodomain helicase DNA-binding protein 7 (CHD7) pathogenic variants are identified in more than 90% of infants and children with CHARGE (Coloboma of the iris, retina, and/or optic disk; congenital Heart defects, choanal Atresia, Retardation of growth and development, Genital hypoplasia, and characteristic outer and inner Ear anomalies and deafness) syndrome. Approximately, 10% of cases have no known genetic cause identified. We report a male child with clinical features of CHARGE syndrome and nondiagnostic genetic testing that included chromosomal microarray, CHD7 sequencing and deletion/duplication analysis, SEMA3E sequencing, and trio exome and whole-genome sequencing (WGS). We used a comprehensive clinical assessment, genome-wide methylation analysis (GMA), reanalysis of WGS data, and CHD7 RNA studies to discover a novel variant that causes CHD7 haploinsufficiency. The 7-year-old Hispanic male proband has typical phenotypic features of CHARGE syndrome. GMA revealed a CHD7-associated epigenetic signature. Reanalysis of the WGS data with focused bioinformatic analysis of CHD7 detected a novel, de novo 15 base pair deletion in Intron 4 of CHD7 (c.2239-20_2239-6delGTCTTGGGTTTTTGT [NM_017780.3]). Using proband RNA, we confirmed that this novel deletion causes CHD7 haploinsufficiency by disrupting the canonical 3' splice site and introducing a premature stop codon. Integrated genomic, epigenomic, and transcriptome analyses discovered a novel CHD7 variant that causes CHARGE syndrome.

Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome.

BACKGROUND: Bilateral choanal atresia in patients with CHARGE syndrome becomes symptomatic immediately after birth. A prompt diagnosis, the implementation of sufficient preliminary measures, and the delivery of surgical therapy are crucial. This article is intended to assist in terms of diagnostics and a therapy recommendation. METHODS: We performed a retrospective study using the medical records of all newborns in the University Hospital in Bonn, diagnosed with bilateral choanal atresia and CHARGE syndrome and underwent surgery at the Department of Otorhinolaryngology, Head and Neck Surgery. RESULTS: A total of 21 patients have been treated with a unilateral or bilateral choanal atresia. 14 patients were primarily treated with transnasal endoscopy or underwent transnasal endoscopic surgery as a follow-up intervention (73.68%). Nine patients had a syndromal appearance, which was considered a definite diagnosis in six patients (five with CHARGE syndrome). All five patients with CHARGE syndrome received transnasal endoscopic treatment and a stent was inserted. DISCUSSION: Bilateral choanal atresia can be a life-threatening situation requiring acute measures. The therapeutic trend goes towards transnasal endoscopic resection. Primary intervention should be: minimally invasive, one-stage surgery, functional, and associated with low complication rates. Patency can be increased by saline irrigations, topical corticosteroids, endoscopic controls, and regular dilatation. The insertion of stents is controversially discussed but can be useful in syndromal patients. However, adjuvant therapy with a stent and mitomycin C is increasingly being abandoned. A significantly higher recurrence rate must be expected in association with CHARGE syndrome. Stenting should be considered on an individual basis. Continuous training and support of the parents are obligatory.

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and fourth fingers of the right hand, and bilateral lacrimal duct stenosis/aplasia. A later maxillofacial review identified a palpable submucousal cleft and his scalp hair is blond and slightly sparse. Choanal atresia and rectal stenosis are recognized features of ectrodactyly-ectodermal dysplasia-clefting syndrome, but we believe this is the first report of a case presenting with these features in the absence of the cardinal features.

Atresia congénita bilateral de coanas en una adolescente: reporte de un caso / Congenital bilateral choanal atresia in an adolescelent: a case report

La atresia congénita de coanas se caracteriza por la presencia de placas que obliteran la comunicación entre la cavidad nasal y la nasofaringe desde el nacimiento. Se considera como incompatible con la vida cuando la condición es bilateral. El siguiente es el caso de una paciente femenina, de 17 años, sin síndromes asociados, con obstrucción y descarga nasal anterior bilateral, asociado a respiración oral desde el periodo neonatal. El diagnóstico de atresia bilateral de coanas fue confirmado por medio de endoscopía nasal y tomografía computarizada (TC). La imagen confirmó la presencia de placas atrésicas de composición mixta. La paciente recibió tratamiento quirúrgicamente por vía transnasal con resección de las placas y modelado de neocoana.

Congenital choanal atresia is characterized by the presence of plates obliterating the communication between the nasal cavity and the nasopharynx from birth. If bilateral, this condition is incompatible with life. This following is the case of a 17-year-old female patient, without associated syndromes, with bilateral nasal obstruction and anterior discharge, associated to oral breathing, starting in her neonatal period. The diagnosis of bilateral choanal atresia was confirmed by nasal endoscopy and computed tomography (CT) scan, due to the presence of atretic plates of mixed composition. The patient was surgically treated with plate resection and modeling of a neochoana by means of a transnasal surgical approach.

Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response.

Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys. Because she had difficulty hearing, we sequenced GATA3 and determined that she had a c.708_709insC (p.Ser237Glnfs*66) allelic variant in exon 3. As a result, we found a family of this disease. Each family member, including her grandfather, mother, and two siblings, had HDR syndrome of varying clinical penetrance. We found a craniofacial anomaly, congenital choanal atresia, which was inherited as an autosomal dominant trait. Hypocalcemia coupled with vitamin D deficiency, triggered by carbamazepine treatment, ultimately revealed the proband's childhood- onset HDR syndrome. Pure-tone audiometry revealed different severities of deafness as well as the progression of sensory hearing loss. However, auditory brainstem response for hearing screening is probably insufficient for ascertaining HDR syndrome in the early stages of life. We presented new clinical clues to diagnose the HDR syndrome.

Skull base anatomy and surgical safety in isolated and CHARGE-associated bilateral choanal atresia.

INTRODUCTION: Bilateral choanal atresia (BCA) is associated with a high incidence of congenital abnormalities that include skull base anomalies and defects. Surgical repair of BCA is necessary in the early neonatal period and any altered anatomy of the adjacent skull base will heighten the risk of intracranial injury. This risk may be further increased in patients with CHARGE syndrome. OBJECTIVES: To measure surgically relevant nasal and skull base dimensions in neonates with BCA in order to determine whether any difference exists between isolated and CHARGE syndrome associated subgroups, thereby optimizing the safety of surgical repair. METHODS: A retrospective review of medical charts and computed tomography was undertaken at a tertiary pediatric hospital of all neonates diagnosed with BCA between 2004 and 2016. Isolated and CHARGE syndrome subgroups of BCA were identified from clinical records and CT data was analyzed and compared between the two. The skull base parameters measured were choanal width, choanal height, mid-nasal skull base height and skull base slope. RESULTS: Of the 13 patients included, 3 had CHARGE syndrome and 10 had isolated BCA. Whilst the difference in mid-nasal height approached significance for the two groups, numbers were too small for a statistical difference to be identified. The mean value for choanal width in the isolated BCA group was significantly less the largest series of normative data available in the literature for comparison (p < 0.001). No skull base anomalies were noted in either group. CONCLUSION: While this is a small study with limited numbers, it is the first that has attempted to identify and measure the posterior nasal and skull base anatomy most pertinent to avoiding skull base injury in the surgical management of BCA.

Pediatric Nasal Obstruction.

Nasal obstruction is one of the most common problems seen by pediatric otolaryngologists. Prompt treatment of nasal obstruction can be critical in newborns and infants because of their obligatory nasal breathing. Older children will typically have more inflammatory, infectious, or traumatic causes of nasal obstruction. Nasal obstruction can lead to a significant decrease in the quality of life in children along with an increase health care expenditures.

Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.

We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. To our knowledge, this mutation is neither listed in a mutation database nor described in the literature. Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. The determination of the molecular basis of syndromic CSD will facilitate prenatal and postnatal diagnosis of patients and will contribute to counselling of affected families, especially in areas like the UAE where consanguineous marriages are not uncommon.

Use of a novel surgical approach for treatment of complete bilateral membranous choanal atresia in an alpaca cria.

CASE DESCRIPTION A 4-hour-old 6.3-kg (13.9-lb) female alpaca cria was evaluated because of severe respiratory distress and difficulty nursing since birth. CLINICAL FINDINGS The cria had open-mouth breathing and cyanotic membranes, with no airflow evident from either nostril. Supplemental oxygen was delivered, and the patient was anesthetized and intubated orotracheally; a CT evaluation of the head confirmed bilateral membranous obstruction of the nasal cavities, consistent with complete bilateral choanal atresia. TREATMENT AND OUTCOME Choanal atresia was treated with an endoscopically assisted balloon-dilation technique, and temporary tracheostomy was performed. Stenosis recurred, requiring revision of the repair and intranasal stent placement 3 days after the first surgery. The tracheostomy tube was removed the next day. Complications during hospitalization included mucoid obstruction of the tracheostomy tube, granulation tissue development in the trachea near the tracheostomy site, mucoid stent obstruction, aspiration pneumonia, and presumed partial failure of passive transfer of immunity. The stents were removed 2 weeks after admission, and the cria was discharged 3 days later. The owner was advised that the animal should not be bred. At last follow-up 3 years later, the alpaca was doing well. CLINICAL RELEVANCE Surgical treatment with a balloon-dilation technique and placement of nasal stents with endoscopic guidance were curative in this neonatal alpaca with bilateral membranous choanal atresia. Computed tomography was useful to determine the nature of the atresia and aid surgical planning. Because a genetic component is likely, owners should be advised to prevent affected animals from breeding.

The effects of choanal atresia on development of the paranasal sinuses and turbinates.

PURPOSE: The objective of this study was to evaluate the volume of paranasal sinuses (PNS) and turbinate in patients with unilateral choanal atresia (CA). MATERIALS AND METHOD: Computed tomography images of PNS in 11 individuals with unilateral CA were evaluated retrospectively. Mucosal thickness and volume of the maxillary, frontal and sphenoidal sinuses were determined, in addition to the volume of the middle and inferior turbinate. The unaffected nasal side of patients was used as a control group for the measurements. The results comprised the measurements of the atresic side compared to those of the healthy side. RESULTS: There was no significant difference between the atresic and healthy side of the nose in patients with CA with respect to mucosal thickness and volume of the PNS (the maxillary, frontal and sphenoidal sinuses) and the middle and inferior turbinate (p > 0.050). CONCLUSION: The complete absence of nasal unilateral airflow had no effect on the development of the PNS and the middle and inferior turbinate. Moreover, mucosal thickness in the sinuses was similar to that in the control group.

[Nasal breath recovery and rhinoplasty in cleft lip and palate patient with unilateral choanal atresia].

The paper presents the analysis of clinical case of endoscopic nasal breath restoration and elimination of the secondary cleft lip nasal deformity in 27 years old patient with unilateral choanal atresia and secondary nasal deformity after rhinocheiloplasty. Preoperative examination revealed the absence of nasal breathing on collateral side due to complete bone choanal atresia. Surgical treatment included endoscopic choanal repair, elimination of the secondary nasal deformity, septoplasty, conchotomy and lateroposition of the inferior conchae. The treatment resulted in nasal breath restoration and elimination of nasal deformity. Long-term follow-up at 1 and 12 months post-operatively proved stable positive aesthetic and functional results.