Faringitis aguda, ¿estreptocóccica? Empleo del estudio etiológico y de antimicrobianos en dos centros pediátricos universitarios / Sore throat, ¿streptococcal etiology? Use of etiological screening and antimicrobial prescription in two university pediatric centers

Se describen aspectos clínicos, del diagnóstico y tratamiento de faringitis en pacientes pediátricos, 421 en un centro ambulatorio y 289 en la unidad de emergencia de un hospital universitario, que consultaron en un periodo de 14 meses. En los centros respectivos hubo 65 y 76 por ciento de pacientes en que se realizaron exámenes para documentar la etiología estreptocóccica. Se demostró la existencia de Streptococcus pyogenes en 37 por ciento de los explorados, siendo similar en ambos centros, con una incidencia máxima de 50 por ciento en el grupo etario de 6 a 10 años. En 217 pacientes no se realizó estudio etiológico, de éstos 162 (75 por ciento) recibieron tratamiento antimicrobiano. Se enfatiza la importancia de los exámenes de confirmación bacteriológica para la correcta indicación de antimicrobianos en esta patología.

Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11 / Clinical heterogenity of the chromosome 22q11 microdeletion syndrome

Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications