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Encephalocele classification. A encephalocele supratorcular. B Encephalocele torcular. C Encephalocele infratorcular
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Introduction:
Encephaloceles are rare congenital malformations of the central nervous system in which brain tissue is extruded from a defect in the skull. Hydrocephalus can occur in 60 to 90% of patients with posterior encephaloceles when compared to other types of this malformation. This article aims to present a series of posterior encephalocele...
Citations
... Encephaloceles (ECs) are one of the pediatric congenital malformations well-studied in the literature [1], with recent articles highlighting the risk factors associated with neurodevelopmental outcomes [2] and factors that predicted hydrocephalus development in children after EC resection [3]. These studies elucidated how clinical and surgical aspects, including associated anomalies, large EC sac size, posterior location, presence of neural tissue in the sac, ventriculomegaly, symptomatic hydrocephalus, and seizures and postoperative infections, could pose significant challenges to neurodevelopment and functional outcomes in affected children [1][2][3][4]. ...
... Encephaloceles (ECs) are one of the pediatric congenital malformations well-studied in the literature [1], with recent articles highlighting the risk factors associated with neurodevelopmental outcomes [2] and factors that predicted hydrocephalus development in children after EC resection [3]. These studies elucidated how clinical and surgical aspects, including associated anomalies, large EC sac size, posterior location, presence of neural tissue in the sac, ventriculomegaly, symptomatic hydrocephalus, and seizures and postoperative infections, could pose significant challenges to neurodevelopment and functional outcomes in affected children [1][2][3][4]. In this correspondence, we are writing to underscore the critical importance of neurorehabilitation intervention in optimizing neurodevelopmental outcomes for pediatric patients following EC resection. ...
This correspondence talks about advancing neurorehabilitation intervention to enhance neurodevelopmental outcomes in pediatric patients following encephalocele resection
... Tully y cols., explicaron que la aparición de hidrocefalia tenía una base genética y que usualmente estaba asociada a otros síndromes 22 . Protzenko y cols., también observaron que la presencia de la malformación de Dandy-Walker podía causar una obstrucción de la salida de líquido cefalorraquídeo del cuarto ventrículo y explicar la aparición de hidrocefalia 23,24 . Por el contrario, Lober describió que la mayoría de pacientes desarrollaban hidrocefalia secundaria después de la corrección del encefalocele 25 . ...
... Otros consideran que cuando hay hidrocefalia preoperatoria ésta debe tratarse de forma simultánea con la intervención del encefalocele 28. Sin embargo, la mayoría ha reportado que el tratamiento de la hidrocefalia debe llevarse a cabo después de la cicatrización de la herida del encefalocele para así evitar el riesgo de infección 23 . ...
El encefalocele es un tipo de disrrafia caracterizada por una protrusión del contenido intracraneal (meninges, cerebro y/o ventrículos) debido a un defecto del cráneo y de la duramadre. Su etiología es multifactorial. El diagnóstico se realiza en la etapa prenatal en casi todos los casos a través de una ecografía. El tratamiento es quirúrgico y el momento para ello depende de las condiciones propias del paciente. Se realizó una compilación y síntesis de la literatura sobre el tema y se revisaron retrospectivamente una serie de 6 casos intervenidos quirúrgicamente en el Hospital Regional de Talca (Chile). Varios de estos pacientes presentaban otra malformación asociada coincidiendo con lo descrito en la literatura. El objetivo de la cirugía fue poder efectuar un cierre hermético tanto de la duramadre como de la piel que recubría el defecto, resecando el tejido neurológico no funcional y el resto de tejido redundante. Entre las complicaciones observadas podemos mencionar la dehiscencia e infección de la herida, la hidrocefalia y la epilepsia estructural. El tratamiento más indicado para la hidrocefalia es la instalación de una válvula derivativa.
... These abnormalities result in a defect in the calvarium and dura mater, allowing the protrusion of cerebral contents. Encephalocele can present as meningocele, containing only the meninges, or encephalomeningocele, involving both the brain and meninges [24][25][26]. ...
... This rate significantly exceeds the typically reported incidence of 10-20% reported of Salonen e Paavola [8]. The higher prevalence in our study can likely be attributed to our specific inclusion of encephalocele cases, as hydrocephalus is frequently associated with this condition [25]. Other malformations associated with MKS included cleft lip, distinctive facies, agenesis of corpus callosum, Dandy-Walker malformation, short neck, hypertelorism, and ambiguous genitalia, consistent with the well-established spectrum of malformations associated with MKS. ...
Introduction
Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles.
Methods
A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber.
Results
The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5–6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03–18) months.
Conclusion
Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.
... [2][3][4]6,7] The main objectives of surgery are the following: To reintegrate neural tissue, meninges, or CSF into the cranial cavity without causing neurologic deficit, repair the dural defect, and complete a cranioplasty if possible. [11] The majority of surgical techniques recommend the repair at the time of birth or within the first three postnatal months. [7,10] Surgical indication must be considered in cases where there is a risk of rupture of the sac and/or CSF fistula, meningitis, the content of herniated tissue, presence of vascular structures, associated hydrocephalus, and cosmetic appearance. ...
Background
Occipital encephalocele is a congenital defect of the neural tube at the level of the cranial midline, which results in herniation of meninges and brain tissue. The results of the management of myelomeningocele study determine the maternal and fetal risks for an open fetal surgery and have motivated the constant review of the concepts and strategies which the pediatric neurosurgeon can employ for the treatment of neural tube defects in the prenatal period.
Case Description
We present a case of a female patient in utero of 26 gestational weeks with the diagnosis of an occipital encephalocele treated by open fetal surgery. During week 20 of gestation, the diagnosis of occipital encephalocele was made by ultrasound, which was corroborated by fetal magnetic resonance that showed cranial protrusion of neural and meningeal content in the occipital region, measuring 1.6 × 2.8 × 3.3 cm with an approximate volume of 7.7 cc through a bone defect of 6 mm. The closure of the defect was performed by the postnatal surgical technique adapted to the open fetal surgery. Later, the patient was born transabdominal with a 2.8 cm occipital wound, with suture points and approximated borders, normocephalic, without clinical signs of sepsis, hydrocephalus, or overt neurologic compromise.
Conclusion
Open fetal surgery is a therapeutic option in the face of an isolated occipital encephalocele. This case report demonstrates the viability of the surgical procedure by the adaptation of a postnatal surgical technique to a prenatal surgery. Further studies are needed to evaluate the long-term functional results, comparing them with those seen in patients who undergo a postnatal procedure.
... 12 As a result of certain disorders or by itself, it can occur. 13 As of now, there is no clear pathophysiology for this damage in the literature. Even though the lesion was initially categorized as a neural tube defect (NTD), the fact that it was epithelialized and did not contain dystrophic brain tissue suggests that the mechanism for the formation could be related to a mesodermal insufficiency, in a manner that differs from other NTDs. ...
... VP shunts are the most common treatment for hydrocephalus in encephaloceles. According to a study by Rehman et al, 13 before encephalocele repair can be completed, a VP shunt must be installed. Kabré et al, 7 suggested that when preoperative hydrocephalus is present, encephalocele should be addressed as well. ...
... Medical literature does not readily report shunt dysfunction rates in encephalocele series. 7,13,14 DaSilva et al, 9 published that in 3.7 years of follow-up, found a malfunction rate of 20%. 90% of shunt dysfunction events occurred in the first 24 months of follow-up in our cohort, which had an 8% shunt dysfunction rate, as seen by the Kaplan-Meier survival curve that was shown. ...
Objectives: To describe the association between the occipital encephaloceles with hydrocephalus and how to improve the outcome of patient. Methodology: Our Prospective study collected records of fifty patients diagnosed with posterior encephaloceles. Data were collected on the gender, location of the encephalocele, presence of neural tissue , dandy walker, microcephaly and hydrocephalus. Results: Twenty-nine females and twenty-one males were present. Over half of the lesions were supratorcular, while the remaining eight (16%) were torcular and the remaining seventeen (34%) were infratorcular. Primary encephalocele repair were done at an average of 9 days (range 2.5–120 days). In twenty-five of the instances, a diagnosis of hydrocephalus was made. Twenty-four patients had a ventriculo-peritoneal shunt implanted. The average age of implantation of VP shunt was only 1.2 months (range 0.3–9 months). One patient underwent an endoscopic third ventriculostomy with good results. Hydrocephalus was related with Dandy-Walker and ventriculomegaly before encephalocele surgery was performed (p values 0.01 and 0.05, respectively). For hydrocephalus therapy, Conclusions: Patients born with encephaloceles frequently suffer from hydrocephalus (50%). This is especially true in cases where the patient also has Dandy-Walker syndrome, CMIII malformation, or pre-existing ventriculomegaly. The severity of large encephaloceles is a limiting factor for the development of hydrocephalus when connected with torcular types and microcephaly.
... Future studies should also analyze HC and ventricle size metrics after patients undergo temporary CSF diversion measures to characterize patterns that lead to permanent CSF diversion. We should also emphasize that this study does not consider circumstances where infants present with microcephaly and hydrocephalus, which can be seen in conditions such as congenital Zika infections, encephalocele, or hypoxic-ischemic encephalopathy [35][36][37]. Conditions in which an infant has microcephaly with hydrocephalus would be expected to have much different ratios of HC:ventricle size and would likely be managed differently from a neurosurgical perspective. ...
Purpose
Intraventricular hemorrhage (IVH) of prematurity can lead to hydrocephalus, sometimes necessitating permanent cerebrospinal fluid (CSF) diversion. We sought to characterize the relationship between head circumference (HC) and ventricular size in IVH over time to evaluate the clinical utility of serial HC measurements as a metric in determining the need for CSF diversion.
Methods
We included preterm infants with IVH born between January 2000 and May 2020. Three measures of ventricular size were obtained: ventricular index (VI), Evan’s ratio (ER), and frontal occipital head ratio (FOHR). The Pearson correlations (r) between the initial (at birth) paired measurements of HC and ventricular size were reported. Multivariable longitudinal regression models were fit to examine the HC:ventricle size ratio, adjusting for the age of the infant, IVH grade (I/II vs. III/IV), need for CSF diversion, and sex.
Results
A total of 639 patients with an average gestational age of 27.5 weeks were included. IVH grade I/II and grade III/IV patients had a positive correlation between initial HC and VI (r = 0.47, p < 0.001 and r = 0.48, p < 0.001, respectively). In our longitudinal models, patients with a low-grade IVH (I/II) had an HC:VI ratio 0.52 higher than those with a high-grade IVH (p-value < 0.001). Patients with low-grade IVH had an HC:ER ratio 12.94 higher than those with high-grade IVH (p-value < 0.001). Patients with low-grade IVH had a HC:FOHR ratio 12.91 higher than those with high-grade IVH (p-value < 0.001). Infants who did not require CSF diversion had an HC:VI ratio 0.47 higher than those who eventually did (p < 0.001). Infants without CSF diversion had an HC:ER ratio 16.53 higher than those who received CSF diversion (p < 0.001). Infants without CSF diversion had an HC:FOHR ratio 15.45 higher than those who received CSF diversion (95% CI (11.34, 19.56), p < 0.001).
Conclusions
There is a significant difference in the ratio of HC:VI, HC:ER, and HC:FOHR size between patients with high-grade IVH and low-grade IVH. Likewise, there is a significant difference in HC:VI, HC:ER, and HC:FOHR between those who did and did not have CSF diversion. The routine assessments of both head circumference and ventricle size by ultrasound are important clinical tools in infants with IVH of prematurity.
... If hydrocephalus persists after this drainage, craniovertebral decompression may be pursued [41]. A 2021 retrospective study of posterior encephalocele cases found that 60-90% were associated with hydrocephalus [42]. Of the 25 patients the study observed with hydrocephalus, 23 were treated with ventriculoperitoneal shunts and 2 received an endoscopic third ventriculostomy. ...
... In the two patients who received endoscopic third ventriculostomy, 1 failed and received a secondary ventriculoperitoneal shunt and the other was successfully up to the time of the study being published. Dandy-Walker malformation was present in 20% of patients and Chiari 3 malformation in 4% [42]. ...
Craniofacial encephaloceles are rare, yet highly debilitating neuroanatomical abnormalities that result from herniation of neural tissue through a bony defect and can lead to death, cognitive delay, seizures, and issues integrating socially. The etiology of encephaloceles is still being investigated, with evidence pointing towards the Sonic Hedgehog pathway, Wnt signaling, glioma-associated oncogene (GLI) transcription factors, and G protein-coupled receptors within primary cilia as some of the major genetic regulators that can contribute to improper mesenchymal migration and neural tube closure. Consensus on the proper approach to treating craniofacial encephaloceles is confounded by the abundance of surgical techniques and parameters to consider when determining the optimal timing and course of intervention. Minimally invasive approaches to encephalocele and temporal seizure treatment have increasingly shown evidence of successful intervention. Recent evidence suggests that a single, two-stage operation utilizing neurosurgeons to remove the encephalocele and plastic surgeons to reconstruct the surrounding tissue can be successful in many patients. The HULA procedure (H = hard-tissue sealant, U = undermine and excise encephalocele, L = lower supraorbital bar, A = augment nasal dorsum) and endoscopic endonasal surgery using vascularized nasoseptal flaps have surfaced as less invasive and equally successful approaches to surgical correction, compared to traditional craniotomies. Temporal encephaloceles can be a causative factor in drug-resistant temporal seizures and there has been success in curing patients of these seizures by temporal lobectomy and amygdalohippocampectomy, but magnetic resonance-guided laser interstitial thermal therapy has been introduced as a minimally invasive method that has shown success as well. Some of the major concerns postoperatively include infection, cerebrospinal fluid (CSF) leakage, infringement of craniofacial development, elevated intracranial pressure, wound dehiscence, and developmental delay. Depending on the severity of encephalocele prior to surgery, the surgical approach taken, any postoperative complications, and the age of the patient, rehabilitation approaches may vary.
... E ncEphalocElEs (ECs) are a congenital herniation of the brain tissue through a defect in the cranium. 1 They are categorized based on the cranial location that they affect, 2,3 and although the specific cause of this malformation remains unknown, a mesodermal aberration is thought to be the cause of the defect in the calvaria and dura mater that allows the cerebral contents to herniate. 4 The association of ECs with other congenital malformations is widely described, 1,5 with more than 60% of infants with EC observed to have other anomalies like microceph-aly, hydrocephalus, arachnoid cyst, Chiari malformations, Dandy-Walker syndrome, cleft palate, hypertelorism, spina bifida, and syndactyly/polydactyly, etc. 2,3,5 Hydrocephalus is a disorder in which CSF collects abnormally within the ventricles, causing ventricular dilatation and increased intracranial pressure. Approximately 60%-90% of posterior ECs and 10%-15% of anterior ECs are associated with hydrocephalus. ...
... The incidence of hydrocephalus in patients with EC has ranged between 16% to 60%. 2,4,6,[9][10][11]17,18,[21][22][23][24][25] In this cohort, 32.4% had ventriculomegaly, of which 90.9% required VP shunt placement due to progressive ventriculomegaly and symptomatic hydrocephalus. Consistent with other publications, 4,21,26 primary ventriculomegaly was dominant in our series. ...
... 26 Protzenko and colleagues also observed that associated Dandy-Walker malformation (DWM) was positively accompanied by the occurrence of hydrocephalus, suggesting the influence of other intracranial anomalies. 4 In addition, occipital ECs can result in fourth ventricle outlet obstruction when associated with DWM. 15 On the contrary, Lorber observed that most of the infants with EC developed secondary hydrocephalus after EC resection. 16 Similarly, 3 studies ob-served a higher incidence of hydrocephalus after surgical repair of the EC. ...
OBJECTIVE
The goal of this study was to investigate and identify the predictors associated with the incidence of hydrocephalus requiring shunt insertion in patients with encephalocele (EC), and to develop a scoring system to estimate the probability of hydrocephalus occurrence over time in these patients.
METHODS
A retrospective analysis was undertaken on data from patients treated for EC at a tertiary medical center between 2010 and 2021. Data including patient age at presentation, sex, sac location, sac size, contents, presence of ventriculomegaly/hydrocephalus, CSF leakage, and other associated intracranial/extracranial anomalies were among the variables evaluated for their predictive value. In addition, logistic regression analyses were performed to identify the independent predictors. A predictive scoring system was developed based on regression coefficients.
RESULTS
A total of 102 cases of EC were identified. The patient group consisted of 52 boys and 50 girls. Seventy-one patients (69.6%) had posterior ECs. Forty-three (42.2%) of the ECs contained neural tissue. Thirty-three patients presented with ventriculomegaly (32.4%), 30 of whom (90.9%) underwent ventriculoperitoneal shunt placement for hydrocephalus. Multivariate analysis revealed that the presence of other associated anomalies (OR 2.8, 95% CI 1.1–7.4, p = 0.027), larger EC sac size (OR 1.3, 95% CI 1.01–1.6, p = 0.042), and infections (OR 6.8, 95% CI 1.3–34.8, p = 0.034) were associated with ventriculomegaly. The logistic regression model consisted of 5 variables including the patients’ history of meningitis, their sex, sac location, sac size, and presence of other other associated anomalies; analysis resulted in the maximum accuracy of 86% for the prediction of hydrocephalus occurrence.
CONCLUSIONS
According to the findings, the presence of other associated anomalies, a larger sac, and infections are significant independent predictors of hydrocephalus. By considering these 3 predictors as well as sac location and the patient’s sex, it will be possible to predict hydrocephalus occurrence in patients with EC with significant accuracy.
... However, large long-term followup studies investigating survival beyond the first year of life in children with rare CAs are costly and time-consuming; therefore, such research is scarce and little is known about the long-term outcomes of children born with certain rare CAs. Published results mainly refer to case series or hospital cohorts often estimating mortality at a point in time and very rarely starting from birth [8][9][10][11][12][13][14]. Due to the rarity of some CAs, sufficiently large standardized cohorts are difficult to obtain and the only way to accurately study survival in children with these CAs is to pool data across several registries and link cases to mortality databases [15,16]. ...
Background
Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children with rare congenital anomalies are costly and sufficiently large standardized cohorts are difficult to obtain due to the rarity of some anomalies. This study aimed to investigate the survival up to 10 years of age of children born with a rare structural congenital anomaly in the period 1995–2014 in Western Europe.
Methods
Live births from thirteen EUROCAT (European network for the epidemiological surveillance of congenital anomalies) population-based registries were linked to mortality records. Survival for 12,685 live births with one of the 31 investigated rare structural congenital anomalies (CAs) was estimated at 1 week, 4 weeks and 1, 5 and 10 years of age within each registry and combined across Europe using random effects meta-analyses. Differences between registries were evaluated for the eight rare CAs with at least 500 live births.
Results
Amongst the investigated CAs, arhinencephaly/holoprosencephaly had the lowest survival at all ages (58.1%, 95% Confidence Interval (CI): 44.3–76.2% at 1 week; 47.4%, CI: 36.4–61.6% at 1 year; 35.6%, CI: 22.2–56.9% at 10 years). Overall, children with rare CAs of the digestive system had the highest survival (> 95% at 1 week, > 84% at 10 years). Most deaths occurred within the first four weeks of life, resulting in a 10-year survival conditional on surviving 4 weeks of over 95% for 17 out of 31 rare CAs. A moderate variability in survival between participating registries was observed for the eight selected rare CAs.
Conclusions
Pooling standardised data across 13 European CA registries and the linkage to mortality data enabled reliable survival estimates to be obtained at five ages up to ten years. Such estimates are useful for clinical practice and parental counselling.
... 2,6,11,12 Some of these associated congenital anomalies are considered to be risk factors or predictors that may lead to failure to obtain typical developmental milestones and result in neurodevelopmental problems in affected children. 1,3,6 Although NDD has been descriptively reported among many studies of ECs, 9,[14][15][16][17][18][19] very few studies have objectively evaluated outcomes and the correlation between predictors and NDD outcomes. 2,6,12,20 In this study, a series of patients with EC has been reviewed for identification of NDD via clinical evaluation and according to the Centers for Disease Control and Prevention (CDC) criteria for child development. ...
... ECs are congenital lesions of the midline sagittal axis of the cranium, and may be classified as a neural tube defect. 14,15 Although the pathogenesis is unknown, they have a multifactorial pattern, similar to other neural tube defects. 22 It is suggested that this malformation may be due to mesodermal insufficiency caused by adhesion between neuroectoderm and surface ectoderm between 3 and 4 weeks of gestation, with subsequent epithelialization of the lesion. ...
... 22 It is suggested that this malformation may be due to mesodermal insufficiency caused by adhesion between neuroectoderm and surface ectoderm between 3 and 4 weeks of gestation, with subsequent epithelialization of the lesion. 15,23,24 In general, ECs have a favorable prognosis with a mortality rate below 10%. 4,6,13,20 However, the presence of some predictors has been shown to worsen the prognosis 9,14 and affect the neurodevelopmental outcome. ...
OBJECTIVE
The overall prognosis of encephalocele (EC) is not well described. However, the presence of some risk factors may result in neurodevelopmental delay (NDD) and negatively affect the prognosis of affected patients. The goal of this study was to evaluate neurodevelopmental outcome, as well as the impact of a number of factors on the outcome in patients with ECs.
METHODS
This was an observational, retrospective study including 102 children with EC who were followed at the pediatric neurosurgery department of a tertiary medical center between the years 2010 and 2021. The authors evaluated NDD status according to the Centers for Disease Control and Prevention classification via clinical evaluation and parent interviews in the outpatient setting.
RESULTS
There were 52 boys and 50 girls. The median age at the time of surgery was 4 months (range 1 day–7.5 years). Seventy-one patients (69.6%) had posterior ECs, whereas 31 (30.4%) had anterior ECs. Forty-three (42.2%) of the ECs contained neural tissue. Of the 102 patients, 33 (32.4%) had ventriculomegaly. In terms of NDD, 14 (14.9%) had mild/moderate delay, whereas 17 patients (18.1%) had severe NDD. On univariate analysis, posterior location, size of sac, presence of neural tissue, ventriculomegaly, symptomatic hydrocephalus, and postoperative infection were correlated with NDD. On a multivariate logistic regression model, only neural tissue presence had a statistically significant association with NDD (OR 7.04, 95% CI 1.33–37.2, p = 0.022). Although not statistically significant, children with ventriculomegaly were 2.6 times as likely to have NDD (95% CI 0.59–11.19, p = 0.362).
CONCLUSIONS
This is a single-center study with a large sample size in which the neurodevelopmental status of patients with EC was assessed, and the authors tried to find the risk factors of NDD in these patients. The results showed that the presence of neural tissue within the EC sac was the only risk factor that had independent statistically significant association with NDD.
