Bilateral choanal atresia is a surgical emergency because of the risk of neonate death from acute asphyxia if treatment is delayed. Its diagnostic confirmation is often endoscopic or CT scan and requires a search for associated malformations. We present the case of a nine-year-old girl who was referred to the ENT department with suspected adenoid pathology. Her medical history showed respiratory distress at birth treated as a neonatal infection. We suspected bilateral choanal atresia due to the absence of fogging on mirror test and failure to pass a 6Fr or 8Fr suction catheter through the nasal cavity into the nasopharynx. Facial CT confirmed the presence of bilateral mixed osteo-membranous choanal atresia. Transpalatal choanoplasty was successfully performed with pre and postoperative endoscopic examination. This clinical case adds to the limited literature on bilateral choanal atresia diagnosed long after birth, raising once again the lack of knowledge of choanal atresia by some health workers, emergency neonatal care, the mechanism of breathing in the newborn, and the management of this malformation. Transpalatal choanoplasty is a good alternative when technical conditions do not allow an endoscopic endonasal approach.
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http://dx.doi.org/10.7759/cureus.27203 | DOI Listing |
J Rhinol
November 2024
Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Background And Objectives: Congenital choanal atresia is a rare condition that occurs in approximately 1 in 7,000 to 8,000 live births and involves the obstruction of the posterior nasal airway. It may present as either unilateral or bilateral, with bilateral cases being more severe due to the risk of immediate neonatal respiratory distress. Bilateral congenital choanal atresia (BCCA) necessitates prompt medical intervention to prevent cyanosis and significant breathing difficulties.
View Article and Find Full Text PDFLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
November 2024
This article reports a case of congenital choanal atresia with additional nostril and nasal deformities admitted to Henan Children's Hospital. A 43-day-old female patient was admitted to the hospital because of wheezing with mouth opening breathing and restricted feeding after birth'. The patient was diagnosis as bilateral congenital posterior nostril membranous atresia, congenital extra nostril nasal deformity and nasal stenosis by fiberoptic nasopharyngoscopy, CT, gene detection, and physical examination results.
View Article and Find Full Text PDFCureus
October 2024
Genetics, Prince Sultan Military Medical City, Riyadh, SAU.
Desanto-Shinawi syndrome (DESSHS) is a rare autosomal dominant disorder caused by a loss of function variant or deletion of the WAC gene. DESSHS is characterized by dysmorphic features and global developmental delay. In this report, we discuss three boys with DESSHS.
View Article and Find Full Text PDFIndian J Otolaryngol Head Neck Surg
October 2024
Department of Otorhinolaryngology, Faculty of Medicine, Al-Azhar University, Assiut, 71511 Egypt.
Cureus
September 2024
Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia Health Campus, Kota Bharu, MYS.
Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).
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