Encefalocele en paciente con síndrome de Hurler: descripción y revisión de alternativas terapéuticas / Encephalocele in a patient with Hurler syndrome: description and therapeutic alternatives review

Introducción: el síndrome de Hurler es la forma más grave de la mucopolisacaridosis I. El depósito de heparán y dermatán sulfato en las meninges favorece el desarrollo de hidrocefalia y, a su vez, de meningoencefaloceles. Caso clínico: se describe el caso de una paciente de 23 años con este síndrome y un encefalocele nasosinusal intervenido mediante cirugía endoscópica nasosinusal y posterior refuerzo mediante un colgajo pericraneal. Discusión: el abordaje endoscópico de los meningoencefaloceles nasales ha crecido notablemente en los últimos años debido a una tasa de éxito elevada tanto para la eliminación de dicha lesión, como para el adecuado control de la fístula de líquido cefalorraquídeo consecuente. Conclusiones: actualmente, la cirugía endoscópica nasosinusal es una herramienta muy útil para el tratamiento de patologías de base de cráneo y reduce la morbilidad causada por el abordaje transcraneal.

Introduction: Hurler syndrome is the most severe version of mucopolysaccharidosis I. The storage of dermatan and heparin sulfate in meninges allows the development of hydrocephalus and meningoencephaloceles. Case report: We report a 23-year-old female with this syndrome and a sinonasal encephalocele operated by endoscopic sinonasal surgery and subsequent pericranial flap as support. Discussion: Endoscopic sinonasal surgery has grown in last years in relation with treatment of sinonasal meningoencephaloceles due to a high rate of success removing the lesion and closing the subsequent cerebrospinal fluid fistula. Conclusion: Currently, the endoscopic sinonasal surgery has become a useful tool in the management of skull base pathologies, and reduces the morbidity due to a transcranial approach.

Individual variation of tentorial notch morphometry in a series of neurocritical patients / Variación individual de la morfometría de la hendidura tentorial en una serie de pacientes neurocríticos

Background: Cadaveric studies on humans have shown anatomical variabilities in the morphometric characteristics of the tentorial notch. These anatomical variations could influence the worsening of neurocritical patients. Objectives: 1) To investigate the morphometric characteristics of the tentorial notch in neurocritical patients using computed tomography (CT); 2) To investigate the correlation between tentorial notch measurements by CT and by magnetic resonance imaging (MRI); and 3) To analyze the individual variability of the tentorial notch anatomy seen in neurocritical patients. Methods: Prospective series of neurocritical patients was examined. An imaging protocol for measurements was designed for CT and MRI. The level of the agreement of the measurements from CT and MR images was established. According to the measurements found, patients were divided into different types of tentorial notch. Results: We studied 34 neurocritical patients by CT and MRI. Measurements of the tentorial notch via CT and MRI showed significant agreement: concordance correlation coefficient of 0.96 for notch length and 0.85 for maximum width of tentorial notch. Classification of tentorial notch measurements according to the criteria established by Adler and Milhorat, we found the following: 15 patients (58%) corresponded to a "short" subtype; 7 (21%) to "small"; 3 (9%) to "narrow"; 2 (6%) to "wide"; 2 (6%) to "large"; 1 (3%) to "long"; and 4 (12%) to "typical". Conclusions: The anatomical variability of the tentorial notch could be detected in vivo by means of CT scan and MRI. Good agreement between the measurements made using these two imaging methods was found.

Antecedentes: Estudios cadavéricos en humanos han mostrado variabilidad anatómica en las características morfométricas de la hendidura tentorial (HT). Estas variaciones anatómicas podrían influir en el neurodeterioro agudo de los pacientes neurocríticos. Objetivos: 1) Investigar las características morfométricas de la HT en pacientes neurocríticos mediante tomografía computarizada (TC); 2) Investigar la correlación de las mediciones de la HT realizadas por TC y resonancia magnética (RM); 3) Analizar la variabilidad individual de la anatomía de la HT observada en pacientes neurocríticos. Métodos: Se examinó una serie prospectiva de pacientes neurocríticos. Se diseñó un protocolo de imágenes para mediciones por TC y RM. Se estableció la concordancia de las mediciones realizadas mediante TC y RM. Según las mediciones encontradas, los pacientes se dividieron en diferentes tipos de HT. Resultados: Estudiamos 34 pacientes neurocríticos por TC y RM. Las mediciones de la HT por TC y RM mostraron una concordancia significativa: coeficiente de correlación de concordancia de 0,96 para la longitud de la HT y 0,85 para el ancho máximo de la HT. Clasificando las medidas de la HT de acuerdo con los criterios establecidos por Adler y Milhorat, encontramos: 15 pacientes (58%) correspondieron al subtipo "corto", 7 (21%) al "pequeño", 3 (9%) al "estrecho" ", 2 (6%) a "ancho ", 2 (6%) al "grande ", 1 (3%) al "largo" y 4 (12%) al "típico". Conclusiones: Se pudo detectar variabilidad anatómica de la HT in vivo, mediante TC y RM. Se encontró una buena concordancia en las medidas obtenidas con ambos métodos imagenológicos.

Encefalocele occipital gigante sin complicaciones neonatales inmediatas / Giant occipital encephalocele without immediate neonatal complications

RESUMEN El encefalocele se produce por un defecto del tubo neural debido a una insuficiencia de la superficie ectodérmica de separarse del neuroectodermo. Este tipo de defecto incluye una etiología multifactorial. Se presentó el caso de una paciente de 43 años, raza indígena, con historia obstétrica de 14 embarazos (13 partos y 1 aborto espontáneo). La paciente acudió con dolor al servicio de urgencia del Centro de atención integral materno-infantil de Ixchiguán, San Marcos, Guatemala (fue atendida como parte de la colaboración médica cubana). En la cesárea se obtuvo un recién nacido con encefalocele occipital, sin complicaciones neonatales inmediatas. El pronóstico para los pacientes con este tipo de malformación congénita es variable, pues depende, en primer lugar, de la localización y el tamaño, del tipo de tejido cerebral herniado, y por otro lado, del número, tipo y gravedad de las malformaciones asociadas.

ABSTRACT Encephalocele occurs from a neural tube defect due to a failure of the ectodermal surface to separate from the neuroectoderm. This type of defect includes a multifactorial etiology. We present a 43-year-old female indigenous patient, with an obstetric history of 14 pregnancies (13 deliveries and 1 spontaneous abortion). She came with pain to the emergency service of the Comprehensive Maternal and Child Care Center of Ixchiguán, San Marcos, Guatemala and was treated as part of the Cuban medical collaboration. A neonate with occipital encephalocele, without immediate neonatal complications, was born by caesarean section. Patient prognosis with this type of congenital malformation is variable, since it depends, firstly, on its location and size, type of herniated brain tissue, and on the other hand, on the number, type and severity of the associated malformations.

Caso Clínico: Meningohidroencefalocele Gigante / Case Report: Giant Meningohydroencephalocele

INTRODUCCIÓN: Los encefaloceles son una anomalía congénita rara, que afecta a 1 de cada 5 000 nacidos vivos. Un meningohidroencefalocele es la herniación de meninges, ventrículos y parte del encéfalo a través de un defecto congénito en el cráneo. El pronóstico de los recién nacidos con encefalocele depende de varios factores. La corta edad y las anomalías congénitas asociadas en estos pacientes plantean desafíos en el diagnóstico y manejo. CASO CLÍNICO: Recién nacido masculino, nacido a las 37 semanas de gestación, por cesárea de emergencia por parto en fase latente, presentado una masa de gran tamaño, sobre la región parieto-occipital, de bordes lobulados, irregulares, cubierta en parte por cuero cabelludo, y en otras zonas de un tono rojo violáceo. El neonato fue poco reactivo, con tono disminuido, llanto ausente. EVOLUCIÓN: Tras valoración del caso por especialistas, debido al importante defecto de la calota craneal y las anomalías estructurales cerebrales, el paciente no fue candidato para tratamiento quirúrgico. Neonato fue dado de alta con expectativa de vida reducida, para recibir cuidados en el hogar. CONCLUSIÓN: El meningohidroencefalocele gigante es un defecto del tubo neural poco frecuente. El manejo de las encefaloceles puede ser complicado y debe ser individualizado y dependerá de las estructuras anatómicas comprometidas. Si bien en este caso el pronóstico fue malo, siempre es necesario el trabajo multidisciplinario para un adecuado manejo.

BACKGROUND: Encephaloceles are a rare congenital anomaly, affecting 1 in 5 000 live births.A meningohydroencephalocele is the herniation of the meninges, ventricles, and part of the brain through a congenital defect in the skull. The prognosis of newborns depends on several factors. The young age and the associated congenital anomalies in these patients contribute to the diagnostic and treatment challenge. CASE REPORT: Male newborn, born at 37 weeks of gestation, by emergency C-section due to latent labor, presenting a large mass over the parieto-occipital region, with lobed, irregular edges, partially covered by the scalp, and in other areas a purplish red tone. The newborn was no very reactive, had decreased tone, absent crying. EVOLUTION: After specialist's evaluation, due to the significant defect in the cranial shell and the structural brain abnormalities, the patient was not a candidate for surgical treatment. The newborn was discharged with a reduced life expectancy, to receive care at home. CONCLUSION: giant meningohydroencephalocele is a rare neural tube defect. The management of encephaloceles can be complicated and must be individualized, and will depend on the anatomical structures involved. Although in this case the prognosis was bad, multidisciplinary work is always necessary for proper management.

Transpalatine Route for the Correction of Transsphenoidal Encephalocele in a Child: A Case Report and Literature Review

Introduction Transsphenoidal encephalocele is a rare neural tube defect characterized by the herniation of meninges and eventually of parts of the brain through a bony defect in the sphenoid bone. The clinical presentation is variable, and surgical treatment is controversial. Case Report This report describes the case of an 8-month-old female child diagnosed with transsphenoidal encephalocele. The child presented with obstruction of the upper airways and was fed via a nasogastric tube but did not present changes in the hypothalamic-pituitary-axis. The patient underwent surgery with the transsphenoidal­transpalatine route, with an excellent outcome and without fistulas or infections. Conclusions Although transsphenoidal encephalocele is a rare congenital anomaly, the transsphenoidal­transpalatine route for the correction of this type of encephalocele is a safe option and produces a favorable outcome in pediatric patients.

Introdução A encefalocele transesfenoidal é um defeito do tubo neural raro, caracterizado por herniação de meninges e eventualmente partes do cérebro através de uma falha óssea no osso esfenoide. A apresentação clínica é variável e o tratamento cirúrgico é controverso. Relato de Caso No presente trabalho descrevemos o caso de uma criança de 8 meses, sexo feminino, com diagnóstico de encefalocele transesfenoidal. Apresentava-se com obstrução de vias aéreas superiores, alimentando-se por sonda nasoenteral e sem alterações do eixo hipotálamo-hipofisário. Tratada com cirurgia via transesfenoidal transpalatal, evoluiu com excelente resultado, sem fístulas e sem infecções. Conclusões Embora a encefalocele transesfonoidal seja uma anomalia congênita rara, a via transpalatina-transesfenoidal para correção deste tipo de encefalocele é uma opção segura e produz um resultado favorável no paciente pediátrico.

Zika y defecto del tubo neural

Presentamos el primer caso confirmado de neonato con microcefalia relacionado a Zika en Panamá, quien además presentaba lesión a nivel del occipucio compatible con encefalocele.

We report the first confirmed case of newborn with microcephaly related with Zika in Panama, who also had lesions to the occiput compatible with encephalocele.

Manejo del excedente cutáneo en encefalocele frontonasal gigante / Management of skin facial excess in giant frontonasal encephalocele

Introducción: el Encefalocele frontonasal es poco frecuente y ocurre por una falla en el cierre del tubo neural durante el desarrollo embrionario. Se asocia a otras anomalías del Sistema Nervioso Central. El scanner y la resonancia nuclear magnética permiten decidir la estrategia de resolución según los defectos óseos, la lesión externa y la deformidad de las unidades faciales. Debe manejarse con equipo multidisciplinario para lograr mejores resultados.En la literatura se describe el tratamiento quirúrgico de los encefaloceles anteriores, pero no se menciona la reducción del excedente cutáneo. En la mayoría de los casos el abordaje bicoronal permite el manejo del encefalocele y la piel, pero el problema surge cuando la superficie de la lesión es mayor. Material y método: Reporte de un paciente con encefalocele anterior gigante tratado en nuestro centro. Descripción del caso: Recién nacido de término sin diagnóstico antenatal de encefalocele frontonasal gigante derivado desde región. Se realiza manejo multidisciplinario logrando cierre de defecto neural y manejo del excedente cutáneo considerando las subunidades estéticas faciales para lograr buenos resultados estéticos. Conclusiones: El encefalocele nasofrontal gigante es poco frecuente y requiere un manejo multidisciplinario. La cirugía consiste en la resección de la masa herniada, cierre del defecto y manejo cutáneo. Este caso muestra cómo manejar un colgajo residual considerando las subunidades faciales.

Introduction: The Nasofrontal Encephalocele is rare. It is triggered by a failure in the neural tube closure during the embryonic development. This is associated with other anomalies of the Central Nervous System. The Scanner and the Nuclear Magnetic Resonance allow deciding the best surgical resolution strategy, according to the bone defects, external injury and deformity of the facial subunits. In order to achieve optimal results, a multidisciplinary team is required. In the existing literature, surgical treatment of the Anterior Encephalocele is described. However, the skin facial excess in cases of giant tumors is not described. In most patients, bicoronal incision allows handling both the encephalocele and tissue excess. The problem arises when the injury surface is too wide to be treated by abicoronal incision. Materials and methods: Report of a clinical case of a patient diagnosed with a giant anterior encephalocele, who was treated in our center. Clinical picture and performed surgical treatment are described, emphasizing he skin excess reduction, considering the subunits for the repair. Conclusion: The Giant Nasofrontal Encephaocele is a rare defect that requires a multidisciplinary treatment. This surgery consists of resection of the herniated mass and closure of the defect with or without a cranial vault reconstruction. This case sets an example of how to handle residual flap tissue in patients presenting a frontal facial tumors, considering the facial subunits as a reference for the repair that allowed a good aesthetic results.

Encefalocele frontonasal: reporte de un caso con diagnóstico prenatal / Frontonasal encephalocele: report of a case with prenatal diagnosis

El encefalocele es un defecto congénito mayor que se caracteriza por la herniación del tejido nervioso y las meninges a través de un defecto de la bóveda craneal. Esto se debe a alteraciones del cierre del tubo neural ocurridas en la cuarta semana de gestación. El diagnóstico prenatal es posible realizarlo a través de ecografía 2D y 3D. Se presenta el caso de un neonato con encefalocele anterior, entidad poco frecuente dentro de los defectos del cierre del tubo neural. Se realizó el diagnóstico presuntivo prenatal por ecografía 2D y 3D, y se confirmó al nacimiento por los hallazgos clínicos y escanografía(AU)

The encephalocele is a major birth defect characterized by herniation of neural tissue and meninges through a defect in the skull, due to alterations of neural tube closure occurring in fourth week of pregnancy. Prenatal diagnosis is possible through 2D and 3D ultrasound. We report a case of anterior encephalocele, a rare disease among the defects of neural tube closure, with diagnosis by 3D and 2D ultrasonography, which was confirmed at birth by clinical findings and scan(AU)

Reparación endoscópica de encefalocele esfenoidal, secundario a persistencia del canal de Sternberg / Endoscopic repair of sphenoid encephalocele, secondary to persistence of Sternberg's canal

Las fístulas de líquido cefalorraquídeo (FLCR) nasales se producen por la comunicación entre el espacio subaracnoídeo y el tracto aerodigestivo. Pueden ser adquiridas (secundarias a trauma o iatrogenia) o espontáneas. Éstas últimas pueden ser de origen congénito, tumoral o idiopáticas. El canal lateral craneofaríngeo o de Sternberg se produce por la falta de fusión de los puntos de osificación del seno esfenoidal durante el período embrionario. Esta región, ubicada posterolateral a la pared inferior del seno esfenoidal, queda cubierta solamente por tejido conectivo, siendo la zona de menor resistencia de la base de cráneo. La persistencia de este canal puede causar FLCR, especialmente cuando se asocia a elevación de la presión intracraneana y extensa neumatización. La cirugía endoscópica nasal es la técnica de elección para la resolución de estos casos. En el presente artículo se realiza una revisión de la técnica quirúrgica endoscópica nasal para la resolución quirúrgica de encefaloceles secundarios a persistencia del canal de Sternberg, en base a dos casos clínicos que fueron sometidos a cirugía endoscópica nasal.

Nasal cerebrospinal fluid leaks are caused by a nasal communication between the subarachnoid space and the aerodigestive tract. They may be acquired (secondary to trauma or iatrogenic) or spontaneous. The latter can be congenital, tumoral or idiopathic. The lateral craniopharyngeal canal or Sternberg canal is caused by the lack of fusion of the points of ossification of the sphenoid sinus during the embryonic period. This region, located posterolateral to the bottom wall of the sphenoid sinus, is covered only by connective tissue, being the area of least resistance of the skull base. The persistence of this canal can cause cerebrospinal fluid leaks, especially when associated with elevated intracranial pressure and extensive pneumatization. Nasal endoscopic surgery is the technique of choice for solving these cases. This article is a review of the endoscopic surgical technique of encephaloceles secondary to persistence of Sternberg canal, based on two clinical cases.

Síndrome de Meckel con onfalocele y labio fisurado / Meckel syndrome with omphalocele and cleft lip

El síndrome de Meckel es un desorden autosómico recesivo, raro y letal. Se caracteriza por múltiples malformaciones, entre estas, la triada de encefalocele occipital, riñones poliquísticos y polidactilia. Se presenta un caso con múltiples malformaciones incluyendo las menos frecuentes como el onfalocele, la hipospadia y el labio fisurado.

The Meckel Gruber syndrome is a lethal, rare and autosomal disorder. It is characterized by multiple malformations, among these the triad of occipital encephalocoele, large polycystic kidneys and post-axial polydactyly. A case with multiple malformations, including the less frequent as omphalocele, hypospadias and cleft lip is presented.

Reconstrucción de encefalocele frontoetmoidal con injerto de acetábulo / Reconstruction of encephalocele frontoethmoidal using graft acetabular: Case Report

El encefalocele frontoetmoidal es un defecto congénito del tubo neural caracterizado por una herniación parcial del cerebro y las meninges, a través de un defecto craneal anterior que genera deformidad facial. Se presenta el reporte de un niño de 10 años con un defecto facial en línea media que correspondió a un encefalocele frontoetmoidal. Se realizó corrección quirúrgica acompañado de colocación de injerto de acetábulo, obteniéndose una mejoría estética y anatómica favorable. Este parece ser el primer caso en la literatura en el que se utiliza el injerto de acetábulo para la reconstrucción de un encefalocele frontoetmoidal.

Frontoethmoidal encephalocele is a congenital neural tube malformation characterized by a herniation of the brain and the meninges through an anterior cranial defect, which generates facial deformity. This document presents a report of a 10-year-old boy with a midline facial defect corresponding to an encephalocele frontoethmoidal. Surgical correction was performed with the acetabulum graft placement, obtaining an aesthetic improvement and anatomically favorable. This seems to be the first case in the literature in which the acetabulumgraft is used to reconstruct a frontoethmoidal encephalocele.

Espectro de manifestaciones de la malformación de Chiari / Presentation Spectrum of Chiari Malformation

El grupo de anomalías congénitas de la fosa posterior se clasifica en tres tipos: la malformación de Chiari 1 es la más frecuente y la malformación de Chiari 3 es la menos común. El tipo 1 se caracteriza por un descenso de las amígdalas cerebelosas a través del foramen magno y se asocia, entre otras anomalías, con siringohidromielia. Virtualmente todos los pacientes con malformación de Chiari 2 presentan mielomeningocele, que es el responsable de una distensión inadecuada del cuarto ventrículo, con la consecuente hipoplasia de la fosa posterior; los pacientes con Chiari 3 presentan un encefalocele occipital o cervical alto. La resonancia magnética es la modalidad imaginológica de elección en el estudio de los pacientes con malformación de Chiari. En el presente artículo se revisa la literatura pertinente y se muestran casos representativos de los diferentes tipos de malformación de Chiari en estudios de resonancia magnética.

The group of congenital anomalies of the posterior fossa is classified into three types; Chiari 1 malformation is the most frequent one and and Chiari 3 the least common. Type 1 is characterized by downward displacement of the cerebellar tonsils through the foramen magnum; among other anomalies, it is associated with syringohydromyelia. Almost all patients with Chiari 2 have a myelomeningocele, which is responsible for the inadequate distention of the fourth ventricle with the consequent hypoplastic posterior fossa; patients with Chiari 3 have occipital or cervical cephalocele. Magnetic resonance (MR) is the imaging modality of choice in the evaluation of patients with Chiari malformation. In this article we review the pertinent literature available and demonstrate representative cases of the different types of Chiari malformation in magnetic resonance studies.

Encefalocele fronto-nasal. Presentación de un caso / Fronto-nasal Encephalocele. A Case Report

El encefalocele es una herniación del tejido cerebral a través de un defecto congénito o adquirido del cráneo. El congénito se debe a un defecto del tubo neural atribuido a una interacción de varios genes y factores ambientales. El encefalocele anterior es una entidad poco frecuente, su incidencia varía según el área geográfica. Se presenta el caso de un recién nacido con tumoración que protruía en la región fronto-nasal con una formación polipoidea central pediculada, además de la presencia de labio leporino bilateral y fisura palatina. Tras la interconsulta con neurocirugía, se decidió la intervención quirúrgica. Resulta interesante la presentación del caso dada la poca frecuencia con que se presenta esta entidad.

Encephalocele is a herniation of the brain tissue through a congenital or acquired defect of the skull. The congenital condition is caused by a neural-tube defect attributable to an interaction among several genes and environmental factors. Anterior encephalocele is a rare entity and its incidence varies depending on the geographic area. We report the case of a newborn with a tumour protruding through the fronto-nasal region with a central pedunculated polypoid formation, in addition to the presence of bilateral cleft lip and palate. Surgical treatment was decided after consulting the Neurosurgery Department. This case report is interesting due to the rarity of this entity.

Diagnóstico ecográfico del encefalocele / Ultrasonic diagnosis of the encephalocele

Se describe el caso clínico de una embarazada de 19 años de edad, con 13 semanas de gestación, a cuyo feto se le diagnosticó, mediante la ecografía del primer trimestre realizada en el Policlínico "Julián Grimau" de Santiago de Cuba, un posible encefalocele. Los progenitores fueron remitidos a los centros municipal y provincial de genética, donde se le brindó asesoramiento genético a la pareja, quienes optaron por interrumpir la gravidez. Los resultados de la necropsia revelaron la presencia de un encefalocele parietooccipital.

The case report of a 19 year pregnant woman, whose pregnancy was 13 weeks and whose fetus was diagnosed with a possible encephalocele through an ultrasound of the first trimester carried out in "Julian Grimau" Polyclinic from Santiago de Cuba is described. The parents were referred to the Genetics municipal and provincial centers where the couple received genetic advice and who decided to interrupt the pregnancy. The results of the autopsy revealed the presence of a parietooccipital encephalocele.

Encefalocele oocipital / Oocipital encephalocele

A encefalocele é uma protusão do conteúdo do crânio além dos seus limites normais, através de uma má formação óssea congênita associada ou, mais raramente, através de forames ou fissuras normais do crânio. É provável que agentes teratogênicos (medicamentos, altas doses de vitamina A, vírus, radiações entre outros) estejam envolvidos agindo sobre o fechamento do tubo neural primitivo, porém, seus mecanismos ainda são desconhecidos. O conteúdo da encefalocele é variável, podendo apresentar apenas líquido cefalorraquidiano ou contendo importantes tecidos encefálicos. A incidência estimada é 1:4000 nascimentos. A localização anatômica dessa anomalia conjuntamente a outros fatores ­ conteúdo do saco herniário; extensão da má formação, lesões associadas ao SNC e/ou sistêmica ­ é determinante para o tratamento e para o prognóstico do paciente. Relatar o caso de paciente da UTI neonatal com encefalocele contendo importante tecido encefálico com diagnóstico após o nascimento de parto via vaginal. Revisar dados na literatura sobre a etiologia, fatores de risco, o manejo clínico/tratamento e ao seguimento desses pacientes. Foi realizada revisão da literatura, em artigos científicos e livro texto de autores consagrados.A encefalocele é o defeito no fechamento do tubo neural menos comum. Sua incidência varia consideravelmente, sendo mais freqüente em países como o México, Asia e Espanha. Encefalocele occipital são mais comuns no sexo feminino, ao contrário parietal e sincipitiales. Pode estar associado à microcefalia, hidrocefalia, malformação de Chiari tipo III entre outras. Fatores nutricionais e ambientais desempenham certamente um papel importante. Mas estudos recentes apontam também para uma predisposição genética e para o aumento do risco de recorrência em casais com uma criança afetada. O diagnóstico pode ser realizado intra-útero (ecografia - ideal) ou conforme o relato descrito, no momento do exame físico do recém-nascido. Exames como a radiografia crânio, tomografia ou ressonância completam a investigação, servindo também para o planejamento na correção cirúrgica. O tratamento cirúrgico da encefalocele deve ser precoce e de forma multidisciplinar. O diagnóstico pré-natal é importante na determinação do prognóstico e no fornecimento do aconselhamento genético apropriado. Seu conhecimento antecipado pela equipe médica permite desfecho mais adequado da gravidez e um plano obstétrico em um centro que tenha recursos para garantir o melhor atendimento e tratamento para o recém- -nascido em questão. Nesse caso, a UTI neonatal, que permitiu assegurar o direito a atenção integral desse paciente

Encephalocele is a protrusion of the contents of the skull beyond its usual limits, through a birth defect associated with bone formation or, more rarely, by normal cracking or foramina of the skull. It is likely that teratogenic agents (drugs, high doses of vitamin A, viruses, radiation etc.) are related by acting on the closure of the primitive neural tube, although their mechanisms are still unknown. The content of encephalocele varies, either presenting only cerebrospinal fluid or presenting considerable brain tissue. The estimated incidence is 1: 4000 births. The anatomical location of this anomaly in conjunction with other factors - Content of sac; extent of the malformation, lesions associated with CNS and / or systemic - is crucial to the treatment and the prognosis. To report a case of neonatal ITU with important encephalocele containing relevant brain tissue diagnosed after the birth of vaginal delivery. To Review the literature on the etiology, risk factors, clinical / treatment management and follow-up of these patients. Literature review of scientific articles and textbook from renowned authors. Encephalocele is the less common defect in closure of the neural tube. Its incidence varies considerably, being more frequent in countries like Mexico, Spain and Asia Countries. Occipital encephalocele is more common in female patients, opposedly to the parietal sincipitiales and may be associated with microcephaly, hydrocephalus, Chiari malformation type III among others. Dietary and environmental factors certainly play an important role. But recent studies also suggest a genetic predisposition and an increased risk of recurrence in couples with an affected child. The intrauterine diagnosis can be performed (ultrasound - ideal) or as related, at the moment of physical examination of the newborn. Tests such as skull radiography, CT fulfill the investigation, also serving for planning surgical correction. Surgical treatment of encephalocele should be premature and in multidisciplinary way. Prenatal diagnosis is important in determining the prognosis and in providing appropriate genetic counseling. Its anticipated awareness by the medical staff enables a more appropriate outcome of pregnancy and an obstetric plan in a center that has resources to ensure the best care and treatment for the newborn, in this case, a neonatal ICU, which ensures the right to comprehensive care for the patients

Encefalocele etmoidonasal izquierdo: caso infrecuente diagnosticado en paciente adulto / Etmoidonasal Encephalocele Left: Diagnosed in Adult Patient

El encefalocele se caracteriza por la herniación del tejido nervioso a través de un defecto de la bóveda craneana, que puede ser congénito o adquirido, donde la cantidad y la localización de tejido cerebral que protruye determina el tipo y grado de déficit neurológico. La mayoría de las veces se diagnostica durante la infancia, por presencia de una masa nasal observada desde el nacimiento. El diagnóstico durante la edad adulta es raro. Con mayor frecuencia se asocia a complicaciones, como fístula del líquido cefalorraquídeo. El tratamiento es quirúrgico, y consiste en la resección del encefalocele, que variará dependiendo del sitio y estructura que involucre la lesión. En este caso se presenta una paciente femenina de 52 años, con episodio de síncope, convulsión tónico-clónica generalizada y pérdida de la conciencia. La resonancia magnética de cerebro reporta encefalocele etmoidonasal izquierdo. Posteriormente presenta fístula de líquido cefalorraquídeo y se realiza intervención quirúrgica, con confirmación histológica de la lesión...

The encephalocele is characterized by nervous tissue herniation through a defect in the cranial cavity, this can be congenital or acquired, where the quantity and location of protruding brain tissue determines the type and degree of neurologic deficit. Most of the time it is diagnosed during infancy by the presence of a nasal mass observed from birth. The diagnosis in adulthood is rare. It is most often associated with complications such as cerebrospinal fluid fistula. The treatment is surgical and involves resection of encephalocele, which will vary depending on the site and structure involving injury. In this case, female patient presented 52 years with syncope episode, generalized tonic-clonic seizure and loss of consciousness. Brain MRI reports etmoidonasal encephalocele left. Subsequently presents cerebrospinal fluid fistula of surgeryperformed with histological confirmation of the lesion...

Encefalocele basal esfenoetmoidal associada a fissura labiopalatina mediana: relato de caso / Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

Associação de encefalocele basal esfenoetmoidal com fissura labiopalatina é extremamente rara. Relatamos um caso de uma criança de nove anos de idade apresentando uma fissura facial mediana com meningocele, que era evidente através da falha do palato como uma massa mediana intranasal pulsátil. Uma análise dos aspectos clínicos e radiológicos deste caso de disrafia craniana foi realizada.

Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out.

Encefalomenigocele atrésico parietal / Parietal atresic encephalomeningocele

El encefalocele es una anomalía congénita rara, en la que unaíporción del encéfalo protruye a través de un orificio craneal (evaginación), generalmente situado en la línea media. Clínicamente se caracteriza por una masa epicraneal, de consistencia blanda, muchas veces acompañada de trastornos psicomotores, convulsiones y trastornos de la visión. Se presenta el caso de un recién nacido con diagnóstico de encefalomeningocele atrésico parietal, intervenido quirúrgicamente y con evolución satisfactoria

The encephalocele is a uncommon congenital anomaly where a portion of encephalon protrudes through a cranial orifice (evagination), generally located in the middle line. Clinically, it is characterized by a soft epicranial mass often accompanied or psychomotor disorders, convulsions and vision disorders. This is the case of a newborn diagnosed with parietal atresic encephalomeningocele operated on with a satisfactory evolution

Encefalocele occipital gigante neonatal, a propósito de un caso / Neonatal giant occipital encephalocele, a purpose of a case

El encefalocele es una protrusión del contenido endocraneano a través de un defecto óseo del cráneo debido a la falta de separación del ectodermo superficial del neuroectodermo, lo que determina un defecto mesodérmico en la calota. Se presenta el caso de una gestante de 21 años atendida en el Hospital Materno Infantil Germán Urquidi, que presenta al examen obstétrico una altura uterina de 20 cm, producto en situación longitudinal, presentación pélvica, FCF de 140/min, sin dinámica uterina ni modificaciones cervicales. Los laboratorios realizados reportan una infección urinaria, toxoplasmosis, citomegalovirus y alfa feto proteína elevada. El estudio ultrasonográfíco y ultrasonido 3D es compatible con acrania y cefalocele occipital. Se decide interrumpir la gestación induciéndose el parto; obteniéndose un óbito fetal masculino con peso de 1086 g, APGAR 0, que presenta solución de continuidad del cráneo en región occipital por el cual protruye el encéfalo envuelto por sus meninges y cuero cabelludo. La paciente cursa evolución favorable.

The encephalocele is a protrusion of intracranial contents through a skull bone defect due to the lack of separation of surface ectoderm from the neuroectoderm, which determines a mesodermal defect in the skull. A case of a pregnant woman of 21 who received care in Hospital Materno Infantil Germán Urquidi, who presents at the obstetric examination uterine height 20 cm, in a longitudinal situation, breech presentation, FHR of 140/min without uterine or cervical changes. The laboratories reported; urinary tract infection, toxoplasmosis, cytomegalovirus and high alpha-feto protein, and ultrasonography reporting occipital cephalocele, acrania, diagnosis confirmed by 3D ultrasound. It was decided to terminate the pregnancy, induce labor yielding a male stillbirth weighing 1086gr, APGAR 0, which provides integral partof the skull in the occipital region in which the brain protrudes surrounded by their meninges and scalp. The patient had favorable results.

Equoterapia na reabilitação da meningoencefalocele: estudo de caso / Hyppotherapy in meningoencephalocele rehabilitation: a case study

A equoterapia é uma das técnicas de reabilitação utilizada para pacientes com disfunções neurológicas. Os movimentos provocados pelo cavalo no corpo do paciente podem interferir positivamente em seu controle postural, melhorando a mobilidade geral e o desempenho motor funcional. O objetivo deste estudo foi verificar o efeito da equoterapia no equilíbrio, coordenação motora e funcionalidade de uma criança com meningoencefalocele. Uma menina de 3 anos e 6 meses foi submetida a 18 sessões de equoterapia (em três fases - alimentação, escovação e montaria) realizadas uma vez por semana. Para a avaliação foram utilizadas as escalas de equilíbrio de Berg e Tinneti e o Inventário de avaliação pediátrica de incapacidade (PEDI) para habilidades motoras gerais e funcionais, aplicados antes e após o período de terapia; e uma reavaliação foi feita oito semanas (sem intervenção) depois. A equoterapia melhorou de maneira significativa o equilíbrio e a coordenação motora da criança, o que se refletiu no controle de movimentos funcionais básicos para a realização de atividades de vida diária. O ganho funcional também foi percebido pela mãe da criança. Esse estudo oferece uma nova perspectiva sobre o uso da equoterapia como modalidade fisioterapêutica na reabilitação motora e funcional de criança com meningoencefalocele.

Hippotherapy is one among techniques used in rehabilitation of patients with neurological dysfunctions. The patient body's reactions to horse movements are known to have positive effects on patients' postural control, thus improving general mobility and motor functional performance. The purpose of this paper was to assess the effects of hippotherapy on balance, motor coordination, and functionality of a child with meningoencephalocele. A 3-and-a-half year-old girl with meningoencephalocele was submitted to 18 hippotherapy sessions (in a three- phase procedure - feeding, brushing, and riding) once a week. Outcome measures were obtained by means of the Berg and Tinetti balance scales and the Brazilian version of the Pediatric Evaluation of Disability Inventory (for general functional abilities), all applied before and after therapy, and at an 8-week follow-up assessment. Results showed the child's significantly improved balance and motor coordination, which reflected on functional movement control, basic for performing daily living activities. Functional gain was also perceived by the child's mother. This study provides a new insight into hippotherapy as a useful physical therapy modality for improving motor and functional ability of children with encephalocele.