ABSTRACT
Se presenta el caso de un paciente de 4 años de edad, masculino, que procede de gestación a término, con estudios genéticos negativos (alfa feto), parto eutócico que resultó ser un oligoamnios y nace severamente deprimido, con excelente recuperación. Al examen clínico se encuentra: asimetría craneal a expensa de hemicraneo derecho, cavidades orbitarias pequeñas, hipertelorismo, anoftalmia bilateral, hendidura palpebral así como los fondos de sacos y párpados muy pequeños, se asocia además criptorquidia bilateral, hipoplasia escrotal y del pene, flacidez muscular a predominio de extremidades superiores, panículo adiposo aumentado, reflejos sensoriales diminuidos y retardo severo en el desarrollo psicomotor. Se realiza TAC y se encuentra: atrofia lateral con agenesia parcial del cuerpo calloso e hipotálamo. Dilatación ventricular secundaria a la atrofia central y alteraciones del centro termorregulador, asociado este cuadro con una trisomía del grupo 13-15.(AU)
It was presented a case of a 4 year-old male patient who came from a normal labour, with negatives genetic studies (alpha fetus) eutocic delivery that was an oligoamnios and borned severely depressed, with excellent recovery. With the clinical test it was found: cranial asymetry of right hemicranea, small orbital cavities, hypertelorism, bilateral anophthalmia, palpebrall fissure, as well as cul-de-sac and very small eyelids,there were also associated the bilateral cryptorchidism, scrotum and penis hypoplasia muscular flaccidty for the prevailing of superior limbs, the increase of adipose penniculus, disminishment of sensory reflexes and severe anomalies in the psychomotor development. It was also made a (CAT) and it was found: lateral atrophy with partial agenesia of the callous body and the hypothalamus; secondary ventricular dilatation to the central atrofia and alterations of thermoregulator centre, associated with a trisomy of 13-15 group.(EU)
