Defectos del Tubo Neural

Los LOS Neisseria defectos del tubo neural son el 2do tipo más común de defectos congénitos. Los LOS Neisseria defectos del tubo neural pueden ser desde asintomáticos (defectos del tubo neural cerrados) hasta malformaciones muy graves de la columna vertebral o el cerebro (defectos del tubo neural abiertos). Los LOS Neisseria defectos del tubo neural se deben a que el tubo neural no se cierra correctamente durante la 3ra y 4ta semana del desarrollo embrionario. El tipo más común de defecto del tubo neural abierto es el meningomielocele, que afecta tanto a las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy como al AL Amyloidosis tejido neural. Las etiologías de los LOS Neisseria defectos del tubo neural son multifactoriales, desde la nutrición materna hasta los LOS Neisseria determinantes genéticos. Es habitual el diagnóstico prenatal por ultrasonido y nivel de α-fetoproteína materna. El tratamiento de los LOS Neisseria defectos del tubo neural abiertos es principalmente quirúrgico.

Last updated: Dec 17, 2025

Editorial responsibility: Stanley Oiseth, Lindsay Jones, Evelin Maza

Contents

Descripción General

Definición

Un defecto del tubo neural (disrafismo espinal) es un defecto congénito en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el recubrimiento del sistema nervioso central, resultante de un fallo en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el cierre espontáneo del tubo neural durante la 3ra o 4ta semana del desarrollo embrionario.

Clasificación

Defecto del tubo neural abierto (80% de los LOS Neisseria casos): un defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la línea media de los LOS Neisseria cuerpos vertebrales con diferentes grados de protrusión de las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy y del sistema nervioso central (SNC)
- Defecto a lo largo de la médula espinal:
  - Meningocele Meningocele A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. Neural Tube Defects: Sólo sobresalen las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy.
  - Meningomielocele: tanto las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy como la médula espinal sobresalen (defecto del tubo neural más común).
- Defecto del cráneo:
  - Meningocele Meningocele A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. Neural Tube Defects craneal: Las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy sobresalen.
  - Encefalocele craneal: Tanto las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy como el tronco cerebral/cerebelo/corteza cerebral sobresalen.
  - Anencefalia: fallo completo del cierre del tubo neural cefálico que da lugar a un cerebro fetal totalmente expuesto (no compatible con la vida)
Defecto del tubo neural cerrado: defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la línea media de los LOS Neisseria cuerpos vertebrales sin protrusión de las meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy o del tejido neural
- Sin masa subcutánea: espina bífida oculta
- Con masa subcutánea:
  - Lipomielomeningocele
  - Lipomeningocele Lipomeningocele Neural Tube Defects

Epidemiología

1 de cada 1 500 nacimientos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum Estados Unidos
2da anomalía congénita más común (la más común son las anomalías cardíacas)
Incidencia:
- Ha HA Hemolytic anemia (HA) is the term given to a large group of anemias that are caused by the premature destruction/hemolysis of circulating red blood cells (RBCs). Hemolysis can occur within (intravascular hemolysis) or outside the blood vessels (extravascular hemolysis). Hemolytic Anemia disminuido con los LOS Neisseria suplementos de ácido fólico prenatal y el tamizaje
- Varía según la etnia y la región geográfica
Los LOS Neisseria neonatos femeninos se ven afectados con mayor frecuencia.
Factores de riesgo materno durante el embarazo:
- Déficit de folato
- Antecedentes de defectos del tubo neural en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum niños anteriores (5–10% de recurrencia con 1–2 hermanos afectados)
- Medicamentos que reducen el ácido fólico (ácido valproico, triamtereno, trimetoprim, sulfasalazina)
- Diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus materna mal controlada
- Obesidad materna

Embriología

Desde la concepción hasta la 3ra semana de gestación (gastrulación):
- Célula única → blástula de una sola capa → gástrula de tres capas: ectodermo, endodermo y mesodermo
3ra–4ta semana:
- Ectodermo → se diferencia en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum neuroectodermo (creando la placa neural) → replicación celular en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la placa neural → crestas neurales + pliegue neural
- Mesodermo → se diferencia en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum notocordio → señala el pliegue neural para ampliar/fusionar → tubo neural (neurulación)
- El tubo neural “se cierra” de la mitad hacia afuera → las aberturas craneales (cabeza) y caudales (cola) se cierran aproximadamente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria días 24 y 28

Línea de tiempo de la neurulación — Neurulación: la diferenciación y el crecimiento de la placa neural en el tubo neural durante el primer trimestre de la gestación.
SNP: Sistema nervioso periférico
Imagen por Lecturio.

Presentación Clínica

La mayoría de los LOS Neisseria defectos del tubo neural se descubren durante el tamizaje prenatal. Los LOS Neisseria defectos del tubo neural abiertos son evidentes al AL Amyloidosis nacer, pero los LOS Neisseria cerrados pueden tener presentaciones más sutiles.

Tabla: Características clínicas de los LOS Neisseria principales defectos del tubo neural
Nombre	Descripción	Características clínicas
Mielomeningocele	Hernia Hernia Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the abdominal wall or the respiratory diaphragm. Hernias may be internal, external, congenital, or acquired. Abdominal Hernias medular y meníngea	Cuanto más alta sea la lesión en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la columna vertebral, más graves serán los LOS Neisseria síntomas: Tallo cerebral: malformación de Chiari tipo 2 ( hernia Hernia Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the abdominal wall or the respiratory diaphragm. Hernias may be internal, external, congenital, or acquired. Abdominal Hernias amigdalina cerebelosa) con hidrocefalia Cuello: tetraplejia Defecto lumbosacro: Paraplejía/parálisis flácida Pérdida del tacto y de la sensación de dolor Dolor Inflammation en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria miembros inferiores Anestesia en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la zona perianal Incontinencia intestinal y vesical
Meningocele Meningocele A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. Neural Tube Defects	Hernia Hernia Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the abdominal wall or the respiratory diaphragm. Hernias may be internal, external, congenital, or acquired. Abdominal Hernias meníngea sin afectación de la médula espinal	Masa fluctuante Transilumina Cubierto por la piel
Encefalocele	Meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy ± tejido cerebral que sobresale del defecto craneal	Hidrocefalia Espasticidad Parálisis Convulsiones Microcefalia Retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el desarrollo Problemas de visión Retraso del desarrollo y del crecimiento
Anencefalia	La mayor parte del cerebro y el cráneo están ausentes.	Nacido fallecido/muerte prematura Espástico con sordera/ceguera
Espina bífida oculta	Defecto de fusión del cuerpo vertebral en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la línea media sin protuberancia de la duramadre o del tejido neural	Generalmente asintomático Si la médula espinal está afectada (síndrome de la médula anclada), puede desarrollar incontinencia, estreñimiento o ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia Puede ir acompañada de una piel anormal suprayacente con un hemangioma Hemangioma A vascular anomaly due to proliferation of blood vessels that forms a tumor-like mass. The common types involve capillaries and veins. It can occur anywhere in the body but is most frequently noticed in the skin and subcutaneous tissue. Imaging of the Liver and Biliary Tract, una decoloración, una fosa, un bulto, un seno dérmico o una mancha vellosa

Tipos de defectos del tubo neural y su respectivo defecto
Imagen por Lecturio.

A y B: Fotografías posteriores y laterales que demuestran un mielomeningocele lumbosacro

Imagen: “Lumbosacral Myelomeningocele” por US National Library of Medicine. Licencia: CC BY 2.0

Cutaneous stigmata — A y B: Fotografías posteriores y laterales que demuestran un mielomeningocele lumbosacro

Imagen: “Lumbosacral Myelomeningocele” por US National Library of Medicine. Licencia: CC BY 2.0

Diagnóstico

Tamizaje prenatal

α-fetoproteína sérica/amniótica (α-fetoproteína sérica materna): niveles elevados a las 15–20 semanas de gestación que sugieren un defecto del tubo neural, pero no son diagnósticos
Ultrasonido: La visualización del defecto es específica en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum un 98% y puede utilizarse para confirmar el diagnóstico (puede no detectarse un defecto del tubo neural cerrado).

Imagenología postnatal

Defectos del tubo neural abierto: se suele utilizar la ecografía; se puede utilizar la resonancia magnética (RM) si se necesitan más detalles
Defectos del tubo neural cerrado: ecografía indicada con los LOS Neisseria siguientes signos cutáneos:
- Masa subcutánea palpable
- Parche de pelo sobre la columna vertebral
- Seno dérmico
- Hoyuelos > 5 mm de profundidad o > 25 mm del borde anal
- Marcas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la piel o apéndices en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum forma de cola
- Manchas hiperpigmentadas o desviación de la hendidura glútea

Tratamiento

Prenatal

Prevención con suplementos de ácido fólico (vitamina B₉):
- Disminuye la incidencia de los LOS Neisseria defectos del tubo neural en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum un 70% aproximadamente
- Dosis previa a la concepción: 0,4 mg/día de ácido fólico durante al AL Amyloidosis menos un mes antes de la concepción y durante todo el embarazo
- Una dosis más alta (normalmente 4 mg/día) está indicada para lo siguiente
  - Un embarazo anterior afectado por un defecto del tubo neural
  - Antecedentes familiares de defectos del tubo neural
  - Uso de medicamentos que reducen el ácido fólico
  - Diabetes Diabetes Diabetes mellitus (DM) is a metabolic disease characterized by hyperglycemia and dysfunction of the regulation of glucose metabolism by insulin. Type 1 DM is diagnosed mostly in children and young adults as the result of autoimmune destruction of β cells in the pancreas and the resulting lack of insulin. Type 2 DM has a significant association with obesity and is characterized by insulin resistance. Diabetes Mellitus pregestacional
Parto: se recomienda la cesárea
Cirugía fetal

Postnatal

Defectos del tubo neural cerrado:
- Puede no requerir ninguna intervención
- Seguimiento continuo de los LOS Neisseria síntomas neurológicos inferiores (incontinencia, estreñimiento, dificultad para deambular)
Defectos del tubo neural abierto:
- Mantener caliente y en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum posición prona.
- Cubrir el defecto del tubo neural con un apósito húmedo estéril.
Tratamiento quirúrgico:
- Intervención neuroquirúrgica para todos los LOS Neisseria defectos del tubo neural abiertos
- Los LOS Neisseria defectos del tubo neural cerrados no suelen requerir cirugía

Referencias

Boon, R. L. (2010). Textbooks of Paediatrics.
Winn, H. R. (2011). Youmans Neurological Surgery E-Book. Elsevier Health Sciences.
Goetzl, L. M. (2024). Folic acid supplementation in pregnancy. UpToDate. Retrieved February 7, 2025, from https://www.uptodate.com/contents/preconception-and-prenatal-folic-acid-supplementation
Dukhovny, S., & Wilkins-Haug, L. (2024). Open neural tube defects: Risk factors, prenatal screening and diagnosis, and pregnancy management. UpToDate. Retrieved February 7, 2025, from https://www.uptodate.com/contents/neural-tube-defects-overview-of-prenatal-screening-evaluation-and-pregnancy-management
Lee, S. Y., Papanna, R., Farmer, D., & Tsao, K. (2022). Fetal repair of neural tube defects. Clinics in Perinatology, 49(4), 835-848. https://doi.org/10.1016/j.clp.2022.06.004

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Descripción General

Definición

Clasificación

Epidemiología

Embriología

Presentación Clínica

Diagnóstico

Tamizaje prenatal

Imagenología postnatal

Tratamiento

Prenatal

Postnatal

Referencias

Lecturio

Apoyo

Instituciones

Recursos

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