RESUMEN
Objetivo: Presentar un caso clínico de anoftalmia bilateral congénita y documentar lo encontrado en la literatura sobre esta condición. Diseño del estudio: Reporte de caso clínico. Método: Descripción de un caso clínico de un neonato con anoftalmia bilateral congénita nacido en el Hospital Universitario San Ignacio y que fue atendido por el servicio de oftalmología de la misma institución. Resultados: Se presenta el caso de un paciente masculino con diagnóstico de anoftalmia congénita bilateral y atresia tricuspídea con vasos en D-transposición con coartación aórtica, sin otras malformaciones asociadas ni factores ambientales desencadenantes. Esta es una patología poco frecuente, cuya etiología y procesos fisiopatológicos no se conocen aún en su totalidad. Es relevante continuar el seguimiento y los procesos diagnósticos para esclarecer su proceso de desarrollo y la totalidad de malformaciones complejas con las que puede encontrarse en asociación
Objective: To present a clinical case of congenital bilateral anophthalmia and document what is found in the literature on this entity. Study design: Clinical case report. Method: Description of a clinical case of a neonate with congenital bilateral anophthalmia that was born at the Hospital Universitario San Ignacio and who was treated by the Ophthalmology service in the same institution. Results: We present the case of a male patient with a diagnosis of bilateral congenital anophthalmia and tricuspid atresia with vessels in D-transposition with aortic coarctation, without other associated malformations or environmental risk factors. This is a rare pathology, of which etiology and pathophysiological processes are not yet fully understood. It is relevant to continue follow up and diagnostic processes to clarify its development processes and the entirety of complex malformations with which it can be in association with
Asunto(s)
Humanos , Masculino , Recién Nacido , Anomalías del OjoRESUMEN
VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.
RESUMEN
La crisis asmática es un episodio de empeoramiento progresivo de la dificultad respiratoria que afecta de 5 a 10 de la población infantil. La información brindada por la historia clínica y el examen físico nos permite clasificar la enfermedad en grado leve, moderado ograve y, de acuerdo con éste, hacer el abordaje respectivo, considerando siempre revertir rápidamente la obstrucción de la vía aérea, corregir la hipoxemia, restaurar la función pulmonar y establecer un plan de manejo a largo plazo.