Hallazgo de doble defecto del tubo neural. Reporte de un caso
Finding of a double tube neural defect. Case report

Beatriz Quijada, Orelys Jordán, Bahilda Martínez, Susana De Vita

Resumen


Introducción: Los defectos del tubo neural constituyen un grupo común de anomalías del sistema nervioso central, que están entre las malformaciones congénitas más comunes. Surgen por falla en el cierre del tubo neural, precursor embrionario del cerebro y de la médula espinal, durante la etapa de la neurulación. Tanto factores genéticos como ambientales contribuyen a la etiología de estas malformaciones. Objetivo: Correlacionar los hallazgos prenatales de doble defecto en el cierre del tubo neural diagnosticado en ecografía del segundo trimestre con hallazgos posnatales. Presentación del caso: Paciente de 18 años de edad, primigesta, acude a Unidad de Perinatología Dr. “Freddy Guevara Zuloaga” del Hospital Universitario de Caracas para valoración ecográfica del segundo trimestre. Durante exploración ecográfica a las 19 semanas más 4 días, se observó feto único, con actividad cardíaca presente, en corte axial de calota fetal se evidenció defecto a nivel occipital a través del cual protruía saco meníngeo con contenido cerebral; a nivel torácico y abdominal se detalló otro defecto abierto en columna toraco-lumbar por el cual sobresalía saco herniario. En evaluación posterior, en vista de ausencia de frecuencia cardíaca fetal, se realizó interrupción del embarazo, cuyos resultados posnatales compatibles con encefalocele occipital y mielomeningocele toraco-lumbar, se correlacionaron con los encontrados en ecografía prenatal. Conclusiones: La relevancia de este caso, donde se logró correlacionar los hallazgos prenatales y posnatales, concluyéndose como doble defecto del tubo neural, radica en la importancia de la evaluación perinatal, para identificar anomalías congénitas susceptibles de diagnóstico ecográfico prenatal.

Introduction: Neural tube defects constitute a common group of anomalies of the central nervous system, which are among the most common congenital malformations. They arise due to failure in the closure of the neural tube, the embryonic precursor of the brain and spinal cord, during the neurulation stage. Both genetic and environmental factors contribute to the etiology of these malformations. Objective: To correlate the prenatal findings of double defect in the closure of the neural tube diagnosed in second trimester ultrasound with postnatal findings. Case presentation: An 18-year-old patient, primiparous, attends the Dr. "Freddy Guevara Zuloaga" Perinatology Unit of the University Hospital of Caracas for second-trimester ultrasound evaluation. During an ultrasound examination at 19 weeks plus 4 days, a single fetus was observed, with cardiac activity present. An axial section of the fetal shell showed a defect at the occipital level through which the meningeal sac protruded with brain content; at the thoracic and abdominal levels, it was detailed another open defect in the thoraco-lumbar spine through which the hernial sac protruded. In subsequent evaluation, in view of the absence of fetal heart rate, pregnancy termination was performed, whose postnatal results compatible with occipital encephalocele and thoracolumbar myelomeningocele were correlated with those found in prenatal ultrasound. Conclusions: The relevance of this case, where it was possible to correlate the prenatal and postnatal findings, concluding as a double neural tube defect, is that it highlights the importance of perinatal evaluation, to identify congenital anomalies susceptible to prenatal ultrasound diagnosis.


Palabras clave


defectos del tubo neural; encefalocele; mielomeningocele; anomalías congénitas. neural tube defects; encephalocele; myelomeningocele; congenital abnormalities.

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Referencias


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