الملخص
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.
الموضوعات
Humans , Male , Child , Nasal Obstruction/etiology , Coloboma , Choanal Atresia/surgery , Choanal Atresia/complications , Choanal Atresia/diagnosis , Nasopharynx , Endoscopy/adverse effects , Endoscopy/methodsالملخص
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.
الموضوعات
Humans , Female , Adolescent , Choanal Atresia/surgery , Choanal Atresia/diagnosis , Nasal Surgical Procedures/methods , Tomography, X-Ray Computed , Nasal Obstruction/etiology , Choanal Atresia/complications , Endoscopyالملخص
La secuencia de bridas amnióticas (SBA) es un grupo de malformaciones de tipo disruptivo que afecta principalmente las extremidades; clínicamente, se observan anillos de constricción y linfedema en dedos, brazos y piernas; pseudosindactilias y acrosindactilias; además, existe amputación congénita de las extremidades por tumefacción distal; en algunos pacientes se han comunicado, con menor frecuencia, alteraciones craneofaciales y del tronco. La etiología es aún desconocida y la mayoría de los casos son aislados. En este informe presentamos el caso de un paciente masculino, de 45 días de nacido, con diagnóstico de SBA y atresia bilateral de coanas como hallazgo adjunto; se revisan las posibles causas del SBA y las alteraciones asociadas.
Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fngers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknow and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached fnding, and review possible causes of SBA and associated alterations.
الموضوعات
Humans , Infant , Male , Amniotic Band Syndrome/complications , Choanal Atresia/complicationsالموضوعات
Female , Humans , Infant, Newborn , Choanal Atresia/diagnosis , Cysts/congenital , Lacrimal Apparatus Diseases/congenital , Nasolacrimal Duct/abnormalities , Choanal Atresia/complications , Choanal Atresia/surgery , Cysts/complications , Cysts/diagnosis , Cysts/surgery , Lacrimal Apparatus Diseases/complications , Lacrimal Apparatus Diseases/diagnosis , Lacrimal Apparatus Diseases/surgery , Nasolacrimal Duct/surgery , Tomography, X-Ray Computedالملخص
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene. In addition, his father had physical features consistent with Marfan syndrome. Fibrillin-1 (FBN1) mutation screening identified a heterozygous c.3990insC mutation in both father and the patient.
الموضوعات
Abnormalities, Multiple , Central Nervous System Diseases/complications , Central Nervous System Diseases/genetics , Choanal Atresia/complications , Choanal Atresia/genetics , Coloboma/complications , Coloboma/genetics , DNA Helicases/genetics , DNA-Binding Proteins/genetics , Heart Defects, Congenital/complications , Heart Defects, Congenital/genetics , Humans , Infant, Newborn , Male , Marfan Syndrome/genetics , Microfilament Proteins/genetics , Mouth Diseases/complications , Mouth Diseases/genetics , Point Mutation/genetics , Spinal Diseases/complications , Spinal Diseases/genetics , Syndrome , Vestibular Diseases/complications , Vestibular Diseases/geneticsالملخص
Bilateral choanal atresia is potentially a fatal respiratory emergency in a newborn. A 2-day-old full term male infant was presented with history of attacks of cyanosis, difficulty in suckling and respiration. On examination cyclical change of body colour, ie, alternating cyanosis and normal colour was observed. CT scan of the base of the skull revealed bilateral choanal atresia. The patient underwent choanal canalisation operation by transnasal route using Lichtwitz trocar and cannula with controlled force.