ABSTRACT
INTRODUCTION: We describe a first case of human congenital crico-thyroid dysplasia associated to a right sided aortic arch and an aberrant subclavian artery. CASE PRESENTATION: Our patient presented with a two-weeks history of acute dyspnea, and reported hoarseness since his childhood. An urgent tracheotomy was performed, followed by direct laryngoscopy. Endoscopic examination showed a deviation of the dorsoventral axis of the larynx, with an obstructive submucosal swelling the area of the right false cord and aryepiglottic fold. Computed tomography conducted the following day confirmed the crico-thyroid dysplasia, an infected laryngocele, and the presence of a right sided aortic arch and an aberrant subclavian artery. CONCLUSION: The embryological basis of these anomalies is attributed to congenital defects of the development of the fourth and sixth pharyngeal arches. To our knowledge, the congenital crico-thyroid dysplasia has not been previously reported in human. This case underscores the importance of recognizing anatomical variations in laryngeal cartilages, understanding their embryological origins, and potential associated malformations.
Subject(s)
Subclavian Artery , Humans , Male , Subclavian Artery/abnormalities , Subclavian Artery/diagnostic imaging , Cricoid Cartilage/diagnostic imaging , Cricoid Cartilage/abnormalities , Laryngoscopy , Tomography, X-Ray Computed , Thyroid Cartilage/abnormalities , Thyroid Cartilage/diagnostic imaging , Laryngocele/diagnostic imaging , Laryngocele/surgery , Laryngocele/diagnosis , Laryngocele/complications , Tracheotomy , Cardiovascular AbnormalitiesABSTRACT
Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogenous disorder with 41 genes so far identified. Among these genes, ESRRB whose mutations are responsible for DFNB35 hearing loss in Pakistani and Turkish families. This gene encodes the estrogen-related receptor beta. In this study, we report a novel mutation (p.Y305H) in the ESRRB gene in a Tunisian family with ARNSHL. This mutation was not detected in 100 healthy individuals. Molecular modeling showed that the p.Y305H mutation is likely to alter the conformation of the ligand binding-site by destabilizing the coactivator binding pocket. Interestingly, this ligand-binding domain of the ESRRB protein has been affected in 5 out of 6 mutations causing DFNB35 hearing loss. Using linkage and DHPLC analysis, no more mutations were detected in the ESRRB gene in other 127 Tunisian families with ARNSHL indicating that DFNB35 is most likely to be a rare type of ARNSHL in the Tunisian population.
