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Hydrocephalus in patients with encephalocele: introduction of a scoring system for estimating the likelihood of hydrocephalus based on an 11-year experience from a tertiary center
Abstract
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.
... 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
... Nonetheless, it is encouraging to observe an increase in survival in these patients and decline in the incidence of shunted hydrocephalus in the modern era [26]. One recent study at a single institution reported that 29.4% of encephalocele patients require ventriculoperitoneal (VP) shunting [28]. Here, 20% of patients required VP shunt placement, and 6.7% required a subgaleal reservoir. ...
Introduction
To evaluate the outcomes and demographics of encephalocele patients who were born and received treatment in our neonatal ICU and conduct a PRISMA literature review.
Methods
An Institutional Review Board (IRB)-approved retrospective cohort study was undertaken to investigate the results of treating encephalocele patients at Jackson Memorial Hospital (JMH) from 1998 to 2022. The study focused on assessing outcomes and the impact of maternal socioeconomic factors, such as religion, age, and education, along with the timing of diagnosis, in connection with a systematic review.
Results
A total of 20 encephalocele patients were identified (13 females and 7 males), with 15 having available medical records for review. Most of these cases involved occipital encephaloceles (73.3%). Maternal ages at the time of delivery ranged from 15 to 42 years, with a mean age of 27.3 years. The average gestational age at birth was 37 weeks. Ten cases had a prenatal diagnosis documented, occurring between 12 and 24.5 weeks of gestation. Three of the surviving patients had records of prenatal counseling that included discussions about termination. No infections were reported. Among the 15 cases, 11 patients (73.3%) were alive at the last follow-up, with a mean age at follow-up of 4.12 years, ranging from 6 weeks to 15 years post-birth. Hydrocephalus was noted in 26.7%. Only 1 mother had completed high school. Most mothers were either on Medicaid (9 patients) or uninsured (3 patients), with only 3 having commercial insurance. Religious affiliations varied among the mothers, with 14 out of 15 identifying with a particular religion. The systematic review identified 22 articles from various countries, with 11 articles meeting the inclusion criteria for qualitative analysis. These articles revealed potential maternal risk factors for encephaloceles, including low-nutrient diets, inadequate folic acid intake, young maternal age, advanced maternal age, low socioeconomic status, and limited educational attainment.
Conclusions
In the twenty-first century, there is a positive trend in the survival rates of children born with encephalocele. However, maternal factors such as low socioeconomic status and limited educational attainment remain prominent, affecting their ability to access timely prenatal care and impacting follow-up medical care for these children.
... We were able to present a significantly accurate model consisting of the patient's sex, location, and size of the encephalocele sac, history of meningitis, and presence of other accompanying intracranial anomalies as the predicting variables. 1 Here, we intend to briefly review the method we used for the development of this scoring system. This process can be divided into 4 main stages as illustrated in detail in Figure 1. ...
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 encephaloceles and its association with hydrocephalus as well as promote a review of the pertinent literature.
Material and methods:
A retrospective study of our series based on hospital charts of 50 patients with posterior encephaloceles was performed. Data on sex, location of encephalocele, presence of associated malformations, presence of neural tissue within the malformation, presence of hydrocephalus and microcephaly were recorded.
Results:
There were 29 females and 21 males. There were 25 (50%) supratorcular, 8 (16%) torcular, and 17 (34%) infratorcular lesions. Mean age of encephalocele primary repair was 8 days (range 2-120 days). Hydrocephalus was diagnosed in 25 (50%) of the cases. Ventriculoperitoneal shunt was inserted in 24 patients. The mean age at VP shunt insertion was 1.3 months (range 0.3-9 months). Endoscopic third ventriculostomy was successfully performed in one patient. Dandy-Walker malformation and ventriculomegaly prior to encephalocele surgical correction were positively associated with hydrocephalus (p values 0.05 and 0.01, respectively). Chiari III malformation was found in 2 cases, both requiring CSF shunt for treatment of hydrocephalus and are stable in follow-up. Microcephaly was present in 9 cases. The known mortality rate was 8%.
Conclusions:
Hydrocephalus is common in patients with posterior encephaloceles, being more frequent in the supratorcular type, especially when associated to Dandy-Walker, Chiari III malformation, and pre-existing ventriculomegaly. The severity of giant encephaloceles, when associated to torcular types and microcephaly, is a limiting factor for development of hydrocephalus, due both to the rapid evolution of natural history and the structural changes in microcephaly.
Background
Encephaloceles are cystic congenital malformations in which central nervous system (CNS) structures, in communication with cerebrospinal fluid (CSF) pathways, herniate through a defect in the cranium. Hydrocephalus occurs in 60–90% of patients with occipital encephaloceles.
Objective
Assessment of the surgical management of hydrocephalus associated with occipital encephalocele and its effect on the clinical outcome.
Methods
Between October 2015 and October 2019, a retrospective study was conducted on seventeen children with occipital encephaloceles who were operated upon. The presence of progressive hydrocephalus was determined by an abnormal increase in head circumference and an increase in the ventricular size on imaging studies. A ventriculoperitoneal (VP) shunt was applied in patients who had hydrocephalus. The clinical outcome was graded according to the developmental milestones of the children on outpatient follow-up visits.
Results
The mean age at surgery was 1.6 (range, 0–15) months. There were ten girls (58.8%) and seven boys (41.2%). Ten encephaloceles (58.8%) contained neural tissue. Ten patients (58.8%) had associated cranial anomalies. Eleven children (64.7%) had associated hydrocephalus: four of them (36.4%) diagnosed preoperatively, while seven children (63.6%) developed hydrocephalus postoperatively. Ten of them (90.9%) were managed by VP shunt. All children with hydrocephalus had some degree of developmental delay, including six (54.5%) with mild/moderate delay and five (45.5%) with severe delay. Half of the patients (50%) of the children with occipital encephalocele without hydrocephalus had normal neurological outcome during the follow-up period ( p value= 0.034).
Conclusions
Occipital encephalocele is often complicated by hydrocephalus. The presence of hydrocephalus resulted in a worse clinical outcome in children with occipital encephalocele, so it can help to guide prenatal and neonatal counseling.
Objects: Progressive skin necrosis of giant occipital encephalocoele is an extremely rare complication found in neonates. infection and ulceration of the necrosed skin may lead to meningitis or sepsis. we present here a neonate with giant occipital encephalocoele showing progressive necrosis during the first day of his life. Methods: a newborn baby was found to have a huge mass in the occipital region, which was covered by normal pink-purplish skin. during the last hours of the first day of his life, the sac started becoming ulcerated accompanied with a rapid color change in the skin, gradually turning darker and then black. the neonate was taken up for urgent excision and repair of the encephalocele. two years after the operation, he appears to be well-developed without any neurological problems.Conclusion: necrosis may have resulted from arterial or venous compromise caused by torsion of the pedicle during delivery or after birth. the high pressure inside the sac associated with the thin skin of the encephalocoele may be another predisposing factor. in view of the risk of ulceration and subsequent infection, urgent surgery of the necrotizing encephalocele is suggested.
Aims:
To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.
Background:
Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain.
Objective:
To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.
Methods:
We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information.
Results:
Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care.
Conclusion:
Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.
Posterior encephalocele is a neural tube defect, which is a sac‐like protrusion of the neural tissue and cerebrospinal fluid through a defect in the occipital bone. This embryonic anomaly may coexist with cortical dysplasia, agenesis of the corpus callosum, hydrocephalus, microcephaly, craniofacial abnormalities, ventricular and atrial septal defect. We report a case of a large posterior encephalocele in a fetus accompanied by unexpected major abnormalities including transposition of the great arteries, severe ventriculomegaly and cerebellar atrophy. Postnatal surgical corrections of the posterior encephalocele and then of the transposition of the great arteries were performed but the neonate died 2 months after delivery.
Aims and Objectives
The aim of this study is to find the outcome of repair and resection of the occipital encephalocele.
Study Design
Case series.
Materials and Methods
The clinical data of fifty consecutive occipital encephalocele patients were retrieved from medical records including operative notes, postoperative follow-up visits, and postsurgical complications were noted for analysis from November 2009 to November 2013 at the Department of Neurosurgery, Jinnah Postgraduate Medical Centre, Karachi, Pakistan. All patients were assessed by computed tomography scan, magnetic resonance imaging brain, and ultrasound when needed. Physician's assessment, physical examination, and his/her questions to the family at follow-up were used as a tool to determine if there was a developmental delay rather than quantitative analysis like hydrocephalus questionnaires. Patients who developed complications and delayed milestone were regarded as no improvement and those who did not develop complications and achieved appropriate milestone were regarded as improved at 18 months follow-up.
Results
Of 50 patients, 17 were males and 33 were females. The average age at presentation was 2.4 months. 16 (32%) patients had increased head circumference and hydrocephalus, 2 (4%) had associated Dandy–Walker cyst, 3 (6%) developed developmental delays, and 8 (15%) had a seizure disorder. None of our patients had neurological deficits. The size of the sac ranged from 2 cm × 3 cm to 27 cm × 15 cm. 9 (18%) patients were admitted with the complication of sac rupture and 2 (4%) patients sac ruptured after admission. Only one patient (2%) had a cerebrospinal fluid leak postoperatively that was repaired primarily without patch graft or dura seal while 4 (8%) developed hydrocephalus after repair of the sac which was treated with placement of ventriculoperitoneal shunt. One (2%) patient did not recover from anesthesia and expired.
Conclusion
Encephalocele is commonly seen in the practice of neurosurgery in the world as well as in Pakistan. Modern neuroimaging, neurosurgical techniques, and neonatal neurological intensive care have greatly improved morbidity and mortality in the care of encephalocele.
Clinical prediction models are developed to calculate estimates of the probability of the presence/occurrence or future course of a particular prognostic or diagnostic outcome from multiple clinical or non-clinical parameters. Radiologic imaging techniques are being developed for accurate detection and early diagnosis of disease, which will eventually affect patient outcomes. Hence, results obtained by radiological means, especially diagnostic imaging, are frequently incorporated into a clinical prediction model as important predictive parameters, and the performance of the prediction model may improve in both diagnostic and prognostic settings. This article explains in a conceptual manner the overall process of developing and validating a clinical prediction model involving radiological parameters in relation to the study design and statistical methods. Collection of a raw dataset; selection of an appropriate statistical model; predictor selection; evaluation of model performance using a calibration plot, Hosmer-Lemeshow test and c-index; internal and external validation; comparison of different models using c-index, net reclassification improvement, and integrated discrimination improvement; and a method to create an easy-to-use prediction score system will be addressed. This article may serve as a practical methodological reference for clinical researchers.
Introduction
The possibility of an association between Dandy–Walker malformation and occipital meningocele is well-known. However, just an overall number of about 40 cases have been previously reported. Giant occipital meningocele has been described only in three newborns. Incidence, pathology, clinical presentation, and proper management of this association are still poorly defined.
Report of the case
An 8-year-old boy with Dandy–Walker malformation and giant (25 cm in diameter) occipital meningocele is presented. This boy was born without any apparent occipital mass and harbored no other significant malformations including hydrocephalus. On admission, he was neurologically intact and the giant occipital mass presented partially calcified cyst walls. Treatment consisted of the excision of the occipital malformation, cranioplasty, and cysto-peritoneal shunt. Outcome was excellent.
Conclusions
To the best of our knowledge, among the few reported patients with Dandy–Walker malformation associated to occipital meningocele, this is the oldest one and the one with the largest occipital meningocele; he is unique with calcified walls of the occipital meningocele and the only one who survived the repair of the giant malformation. In Dandy–Walker malformation, occipital meningocele may develop and grow regardless of hydrocephalus. Giant size may be reached and the cyst may become calcified. Surgical repair may warrant favorable outcome.
An encephalocele is a herniation of the brain and the meninges through a skull defect protruding towards the exterior. The condition is not rare when compared to spinal dysraphisms, but the worldwide incidence is not precisely known. The cases involving occipital encephaloceles which we have diagnosed in our clinic and the surgical approaches for this rare condition are presented herein.
Thirty patients who were diagnosed with occipital encephaloceles and referred to our Neurosurgery Clinic at the Yuzuncu Yil University, Faculty of Medicine Research Hospital between 2000 and 2009 were enrolled in this study. The age of the patient, size of the sac, pathologies that accompanied the condition, and treatments applied were assessed.
In the present study, 30 patients (22 girls and 8 boys), whose ages varied between newborn and 14 months, were evaluated. The encephalocele sac was located in the occipital region in 27 patients (90%) and in the occipitocervical region in 3 patients (3%). Nine (30%) of the 30 patients died; 2 in the preoperative period, 2 in the postoperative early period (0-7 days) and 5 in the late postoperative period (first week to 3 months). With the exception of the 2 patients who died preoperatively, surgery was performed on all of the patients. The mortality rate in our study was 29%.
Our study demonstrated that factors which determine the prognosis of patients diagnosed with occipital encephaloceles include the size of the sac, the contents of the neural tissue, hydrocephaly, infections, and pathologies that accompany the condition. An occipital encephalocele is a congenital neurologic condition with an extremely high morbidity and mortality in spite of the treatments rendered pre- and postoperatively.
Background:
Neural tube defects (spina bifidas or cephaloceles) are congenital malformations that can be associated with hydrocephalus. Even if the surgical management of each of these pathologies separately is well established, this is not the case for a combination of these conditions.
Aim:
To report our results of simultaneous or separate surgery for the association of hydrocephalus with neural tube defect in the same patient.
Methods:
This was a retrospective study of the association of hydrocephalus with neural tube defect (spina bifida or cephalocele) managed over a period of 7 years at the Department of Neurosurgery, Yalgado Ouedraogo University Hospital, Ouagadougou, Burkina Faso.
Results:
Thirty-eight cases were included. The mean age was 8.1 months, and the sex ratio was 0.81. There were 27 cases of spina bifida and 11 cases of cephalocele associated with hydrocephalus. A cerebral CT scan was performed in all patients. In 30 cases, the operative management of these pathologies was performed at the same operative time. Eight cases were operated in 2 separate operative stages with a mean time of 30 days between the 2 operations. The course was favorable in 22 patients operated by the simultaneous approach and in 3 patients operated by the separate approach (p = 0.07).
Conclusion:
Surgical management of the association of hydrocephalus with neural tube defect in 1 or 2 operative stages gave similar clinical results. However, the treatment in 1 surgical stage would considerably reduce the charges.
Background Encephaloceles presents as a protrusion of the cranial contents through a defect in the cranium. The most common sites of occurrence are the occipital and frontonasal regions. The surgical outcome is reported to be satisfactory; however, the incidence of hydrocephalus in patients with encephaloceles is variable in the literature. This study investigated the relationship between the size of the encephaloceles and the occurrence of hydrocephalus.
Patient and Methods Data of all neonates with encephaloceles who presented to our institution from September 2012 to September 2014 were collected. Surgery was performed during the first 2 weeks of age. Encephaloceles with a maximal diameter > 10 cm were included in the study, and the clinical picture, surgical technique, pre- and postoperative imaging, and follow-up were analyzed.
Results Nineteen cases were included in this study. The mean follow-up period was 7 months. Sixteen cases were occipital; three were frontal. In all patients the maximum diameter was > 10 cm. However, in four patients it was > 18 cm. Postoperative ventriculomegaly occurred in seven cases. Of these, four patients needed a permanent ventriculoperitoneal shunt implantation (21%). Wound dehiscence occurred in two patients who required secondary sutures with a favorable outcome. One patient died 2 weeks after the surgery due to a poor general condition and wound infection.
Conclusion Early surgical excision provides effective treatment of huge encephaloceles. Overall, 21% of cases require cerebrospinal fluid (CSF) diversion afterward depending on associated anomalies. Despite their size, giant encephaloceles can have an excellent prognosis with no need for further treatment or CSF diversion.
Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed magnetic resonance images (MRIs) and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to 1 of 5 subtypes and compared on the basis of clinical characteristics and developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth; in addition, 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts, and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. Overall, 53% of surgically treated patients experienced at least 1 shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms.
© The Author(s) 2015.
Cephaloceles are congenital malformations characterized by externalization of the meninges and/or brain tissue through a congenital skull bone defect. In developed countries, this malformation is rare but in our developing countries, this pathology remains one of our concerns.
To describe the epidemiological, clinical and therapeutic aspects of the cephaloceles.
A retrospective study was conducted from 2007 to 2013 on all cases of cephalocele supported in the department of neurosurgery of the Yalgado Ouédraogo University Teaching Hospital of Ouagadougou. The malformations were supplemented by CT scan. All patients were operated. The surgical procedure in cephaloceles of the convexity consisted of a direct approach. Sincipital cephaloceles were operated by transcranial approach or combined approach associating transcranial and transnasal approaches.
Fifty patients were gathered during the 7-year period. There were 18 boys and 32 girls. The ages ranged from 1 day to 11 years. The cephaloceles were located on the vault of the skull in 78%; the lesion was sincipital in 22%. The malformation was covered with normal skin in 92%; it was pediculated in 78%. CT scan allowed the classification of cases as meningo-encephaloceles in 31 cases (62%) and meningoceles in 18 cases (36%) and one pure encephalocele. The immediate postoperative course was uneventful in 42 cases (84%); 8 postoperative deaths were recorded. At medium and long term, 4 patients (8%) developed complications of psychomotor deficiency in 3 cases and hydrocephalus in 1 case. The main reasons for the poor prognosis were superinfection, hydrocephalus and/or other brain malformations.
Cephaloceles remain relatively frequent in our practice. After surgery, mental failure and hydrocephalus can occur impairing the prognosis. The most suitable solution is a policy of prevention with folic acid treatment before and during pregnancy and following up adequate pregnancies.
Copyright © 2015 Elsevier Masson SAS. All rights reserved.
Object:
There is a known association of hydrocephalus with encephaloceles. Risk factors for hydrocephalus and neurological deficit were ascertained in a series of patients born with an encephalocele.
Methods:
A retrospective analysis was undertaken of patients treated for encephaloceles at Children's Hospital Los Angeles between 1994 and 2012. The following factors were evaluated for their prognostic value: age at presentation, sex, location of encephalocele, size, contents, microcephaly, presence of hydrocephalus, CSF leak, associated cranial anomalies, and neurological outcome.
Results:
Seventy children were identified, including 38 girls and 32 boys. The median age at presentation was 2 months. The mean follow-up duration was 3.7 years. Encephalocele location was classified as anterior (n = 14) or posterior (n = 56) to the coronal suture. The average maximum encephalocele diameter was 4 cm (range 0.5-23 cm). Forty-seven encephaloceles contained neural tissue. Eight infants presented at birth with CSF leaking from the encephalocele, with 1 being infected. Six patients presented with hydrocephalus, while 11 developed progressive hydrocephalus postoperatively. On univariate analysis, the presence of neural tissue, cranial anomalies, encephalocele size of at least 2 cm, seizure disorder, and microcephaly were each positively associated with hydrocephalus. On multivariate logistic regression modeling, the single prognostic factor for hydrocephalus of borderline statistical significance was the presence of neural tissue (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 0.8-74.0). Fourteen patients had severe developmental delay, 28 had mild/moderate delay, and 28 were neurologically normal. On univariate analysis, the presence of cranial anomalies, larger size of encephalocele, hydrocephalus, and microcephaly were positively associated with neurological deficit. In the multivariable model, the only statistically significant prognostic factor for neurological deficit was presence of hydrocephalus (OR 17.2, 95% CI 1.7-infinity).
Conclusions:
In multivariate models, the presence of neural tissue was borderline significantly associated with hydrocephalus and the presence of hydrocephalus was significantly associated with neurological deficit. The location of the encephalocele did not have a statistically significant association with incidence of hydrocephalus or neurological deficit. In contrast to modestly good/fair neurological outcome in children with an encephalocele without hydrocephalus, the presence of hydrocephalus resulted in a far worse neurological outcome.
Objective: To evaluate the method of prenatally estimating an appropriate clinical outcome in fetal hydrocephalus. Method: Retrospective study, single institute (Osaka National Hospital). Materials: Hundred and seventeen cases with fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2010 were analysed. Result: Of the 117 cases analysed, 38% are diagnosed as isolated ventriculomegaly(IVM), 51% as other types of malformation (30 cases of myelomeningocele, 4 cases of holoprosencephaly, 4 of Dandy Walker syndrome, 10 of arachnoid cyst and 6 of encephalocele etc.) and 11% as secondary hydrocephalus. They are diagnosed between 17 and 40 weeks of gestation(average 27 weeks), 17% diagnosed between 17 and 21 weeks, 30% between 22 and 27 weeks and 53% after 28 weeks. With the exception of 9 aborted cases and 30 unknown cases too young to be evaluated or lost due to lack of follow-up, final outcome was analyzed in 78 cases. Of these 78 cases, 15% died in utero or after birth, 23% showed severe retardation, 17% moderate retardation, 26% mild retardation, and 19% showed good outcome. Long term consequences were mostly influenced by basic disease and accompanied anomalies. Hydrocephalus associated with arachnoid cyst, atresia of Monro, corpus callosum agenesis and hydrocephalus due to fetal intracranial hemorrhage are categorized in the good outcome group. On the other hand, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus and hydrocephalus due to fetal virus infection are categorized in the poor outcome group. Conclusion: In order to accurate diagnosis and proper counseling, establishment of diagnosis protocol and treatment policy for fetal hydrocephalus including not only fetal sonography, fetal MRI, TORCH screening test but also chromosomal and gene testing is required.
The past decade has provided new insights into the causes and optimal treatment of infant hydrocephalus in sub-Saharan Africa. Here, I review what we have learned in East Africa about the characteristics, management, and outcomes of hydrocephalus associated with neural tube defects, with particular emphasis on its primary treatment by endoscopic third ventriculostomy combined with choroid plexus cauterization (ETV/CPC).
New data from an updated review of the CURE Children's Hospital clinical database is combined with previously published observations to summarize what we have learned to date.
Hydrocephalus associated with myelomeningocele (MM) accounted for 11.8% of 2,780 new cases of hydrocephalus reviewed, and that associated with encephalocele (EC) accounted for 0.5%. Treatment for hydrocephalus was required in 51% of infants with MM and 32% of those with EC. Aqueductal stenosis or obstruction was observed in 82.7% of patients with MM and 71% of those with EC. ETV/CPC successfully treated hydrocephalus without any further surgery in 76% of infants with MM and 80% of those with EC, and was superior to shunting in regard to the incidence of treatment failure, operative mortality, and infection. Shunting in MM infants has no apparent developmental advantage. Although 5-year mortality for infants with neural tube defects in Uganda is significantly greater than their unaffected peers, this appears to be dramatically reduced by the "observer effect" of community-based rehabilitation.
Primary management by ETV/CPC avoids the increased danger of shunt dependence in sub-Saharan Africa for most infants with hydrocephalus associated with neural tube defects.
Encephaloceles are neural tube defects that are characterized by protrusion of the brain and meninges through a defect in the cranium. The inherent implications of pediatric anesthesia and difficult airway make surgical correction challenging for anesthesiologists
Available medical records of 118 children who underwent excision and repair of encephalocele over a period of 10 years were analyzed retrospectively. Data on associated anomalies, anesthetic management, perioperative complications, and outcome at discharge were reviewed.
The average age of presentation was 1 year and 6 months. The most common site of lesion was the occiput (67%). Encephaloceles were giant (size of sac larger than the head) in 15.3% of children. Hydrocephalus was the most common complication (45.8%) and was predominantly associated in children with occipital encephaloceles (P=0.00). Difficult mask ventilation and intubation were encountered in 5.9% and 19.5% of children, respectively. In children with occipital encephalocele, the trachea was intubated commonly by direct laryngoscopy in the lateral position (47.5%). The average blood loss was 69.6±13.2 mL, and 56 children required transfusion, the average being 13.2±9.6 mL/kg. Intraoperative hemodynamic disturbances and respiratory complications were observed in 21.1% and 13.5% of children, respectively. The mean intensive care unit and hospital stay were 1.8±2.1 and 8.6±4.9 days, respectively. The stays were prolonged significantly whenever the children developed hydrocephalus, meningitis, and respiratory infection, predisposing to poor outcome.
Difficult airway is not the only concern in children with encephalocele, but associated congenital malformations, hydrocephalus, large size of sac, and hemodynamic disturbances all require careful consideration.
This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent. The authors explored survival, the efficacy of primary endoscopic management of associated hydrocephalus, and ethnic differences in EC location.
One hundred ten consecutive children presented to CURE Children's Hospital of Uganda for treatment of EC over a 9-year period. Clinical data, including patient demographic information, birth date, lesion type (sincipital, parietal, or occipital), operative data, and subsequent course had been entered prospectively into a clinical database. Home visits to update the status of those lost to follow-up were done when possible. With appropriate institutional approvals, the database was reviewed for this retrospective study. Two-tailed probability values calculated using the Fisher exact test were used to assess the significance of differences among groups, with p < 0.05 being considered significant. The Kaplan-Meier method was used for analysis of survival and treatment success probabilities.
There were 53 (48%) occipital, 33 (30%) sincipital, and 24 (22%) parietal lesions. Occipital lesions were significantly more common among children of Bantu origin (p = 0.02). Nilotes demonstrated a roughly equal distribution among sincipital, parietal, and occipital locations. The female/male ratio was 1.2, with no difference between EC types (range 1.0-1.4, p = 0.6-0.8). Of 110 patients, 108 (98%) underwent surgical repair at a median age of 1 month (mean 15.7 months), whereas 2 had treatment for hydrocephalus only. Wound revision was required in 13% of cases. Surgery-related mortality was 3%. One-year and 5-year survival rates were 87% (95% CI 0.79-0.93) and 61% (95% CI 0.51-0.70), respectively. Hydrocephalus required treatment in 32%, and was equally common among the 3 EC types. Thirteen patients were treated with combined endoscopic third ventriculostomy/choroid plexus cauterization (ETV/CPC) and 2 with ETV alone, whereas 18 patients received primary shunt placement. Predicted treatment success at 1 year was 79% for ETV or ETV/CPC (95% CI 0.50-0.94) and 47% for shunt placement (95% CI 0.24-0.71).
Analysis of this first EC series from this region suggests that sincipital lesions are 3 times more common in East than in West Africa. Occipital lesions predominate in patients of Bantu origin, but not among those of Nilotic descent. Hydrocephalus incidence was equally common among different EC types, and endoscopic treatment was more successful (79%) than shunting (47%) at 1 year. The 5-year mortality rate was similar to that for infants with myelomeningocele in Uganda, and more than twice that for their unaffected peers.
Cephaloceles are rare neural tube defects. In this study, we retrospectively reviewed the charts of all patients with cephaloceles who underwent surgical treatment in our institute for a 14-year period, between January 1995 and January 2009. There were 27 children (11 boys and 16 girls; mean age, 7.5 mo; range, 1 d to 7 y). Seventeen encephaloceles were occipital; 5, parietal; 2, ethmoidal; 1, frontoethmoidal; 1, nasoethmoidal; and 1, sphenoethmoidal. The mean size of sac was 3 cm, although 2 cases of giant occipital encephaloceles were observed. In 19 cases (70%), the sac contained gliotic brain (encephaloceles) that was excised. All patients were operated on in 1 surgical procedure. Hydrocephalus was found in 16 patients and treated with a ventriculoperitoneal shunt insertion. Postoperatively, there was no neurologic deficit or death. After a mean follow-up period of 7.2 years (range, 6 mo to 11.5 y), all patients were in good condition. In conclusion, occipital cephaloceles are more frequently encountered and are usually associated with hydrocephalus. Surgery should be performed as early as possible and only after careful preoperative planning especially for the anterior cephaloceles.
Cephalocele is a central nervous system (CNS) birth defect. Various CNS and extra-CNS anomalies, as well as prognostic factors have been reported with cephalocele. The aim of this study was to discuss prognostic factors and current possible theories explaining associated anomalies seen in a series of 55 patients with cephalocele.
A retrospective study was performed using the records of 55 children with cephalocele at the Children's Hospital Medical Center in Tehran, Iran, from October 2000 through October 2008. Patients' sex, age at the operation time, characteristics of the lesion including location, size, cerebrospinal fluid leakage, radiological assessments and intraoperative findings (sac contents), intracranial and extracranial associated anomalies, and the last situation of the children were reviewed.
A genetic role can be proposed while a female predominance is seen in our results as well as in other reports. CNS and extra-CNS anomalies, as well as several genetic syndromes are not explicable as a causal consequence of cephalocele and the probability of a mere coincidence cannot be ruled out; therefore, we propose that the combination of these anomalies is rather a low-frequency association. Ventriculomegaly was the only poor prognostic determinant in our study, which can compel more severe neuroradiologic studies in such patients as a reasonable prognostic evaluation.
Anterior encephaloceles are rare congenital malformations. Most of the cases in the literature are reported from Southeast Asia. In India it is seen more frequently among manual laborers in the tea gardens of Assam. A brief background of the patients, clinical presentation, operative treatment, and outcome are discussed, with a review of the relevant literature. The causes and pathogenesis of anterior encephaloceles are discussed. The authors' surgical approach to repair of the defect, postoperative complications, and results are described.
Twenty-eight patients (mean age 38 months, range 1 month-12 years) with anterior encephaloceles who presented between 1998 and 2007 are included in the study. Patients were assessed for physical and psychological growth and development; any associated anomalies were noted. A detailed history of the patient's family, including the prenatal history, was obtained. Lesions were classified with the help of neuroimaging studies (skull x-ray, CT, ultrasonography, and MR imaging studies) and confirmed at surgery.
Sixteen patients had nasofrontal, 9 had nasoethmoidal, and 3 had nasoorbital encephaloceles, and 12 patients had associated hydrocephalus. The modes of presentation were nasofrontal swelling, watering from the eyes, CSF leakage, fever, and vomiting. Parents of all the patients were ethnic tea garden workers. The average parental age at the time of marriage was 24 years for men and 18 years for women. Consanguinity was present in 6 patients. Alcohol consumption and tobacco chewing were a common practice in both parents. A total of 42 surgical procedures were done in 16 patients, one of whom died of postoperative meningitis. The mean follow-up duration was 38 months (1-92 months).
Anterior encephaloceles are rare in Western countries and other states in India, but this defect is more commonly seen among the ethnic tea garden workers in Assam. Transcranial repair is the treatment of choice. Unlike encephaloceles in other locations, anterior encephaloceles have a better clinical outcome after surgery.
Progressive skin necrosis of giant occipital encephalocoele is an extremely rare complication found in neonates. Infection and ulceration of the necrosed skin may lead to meningitis or sepsis. We present here a neonate with giant occipital encephalocoele showing progressive necrosis during the first day of his life.
A newborn baby was found to have a huge mass in the occipital region, which was covered by normal pink-purplish skin. During the last hours of the first day of his life, the sac started becoming ulcerated accompanied with a rapid color change in the skin, gradually turning darker and then black. The neonate was taken up for urgent excision and repair of the encephalocele. Two years after the operation, he appears to be well-developed without any neurological problems.
Necrosis may have resulted from arterial or venous compromise caused by torsion of the pedicle during delivery or after birth. The high pressure inside the sac associated with the thin skin of the encephalocoele may be another predisposing factor. In view of the risk of ulceration and subsequent infection, urgent surgery of the necrotizing encephalocele is suggested.
This review focuses on the problems related to defining hydrocephalus and on the development of a consensus on the classification of this common problem. Such a consensus is needed so that diverse research efforts and plans of treatment can be understood in the same context. The literature was searched to determine the definition of hydrocephalus and to identify previously proposed classification schemes. The historic perspective, purpose, and result of these classifications are reviewed and analyzed. The concept of the hydrodynamics of cerebrospinal fluid (CSF) as a hydraulic circuit is presented to serve as a template for a contemporary classification scheme. Finally, a definition and classification that include all clinical causes and forms of hydrocephalus are suggested. The currently accepted classification of hydrocephalus into "communicating" and "noncommunicating" varieties is almost 90 years old and has not been modified despite major advances in neuroimaging, neurosciences, and treatment outcomes. Despite a thorough search of the literature using computerized search engines and bibliographies from review articles and book chapters, I identified only 6 previous attempts to define and classify different forms of hydrocephalus. This review proposes the following definition for hydrocephalus: hydrocephalus is an active distension of the ventricular system of the brain related to inadequate passage of CSF from its point of production within the ventricular system to its point of absorption into the systemic circulation. Based on this definition (potential points of flow restriction) and on the view of the CSF system as a hydraulic circuit, a classification system is proposed. The acceptance of this proposed definition and classification schema would allow clinicians and basic scientists to communicate effectively, to share information and results, and to develop testable hypotheses.
Cephaloceles represent primary axial mesodermal defects, occurring in 0.8-4 per 10,000 live births. Prior studies have reported posterior location, hydrocephalus, microcephaly, seizure, and presence of brain tissue as poor prognostic markers for neurological outcome. However, these studies were small and the results were analyzed using univariate tests. The purpose of this study was to investigate the potential risk factors for the occurrence of developmental delay in patients with cephaloceles, using both univariate and multivariable regression techniques.
This is a retrospective cohort study of cephalocele cases treated at the Hospital for Sick Children between 1990 and 2006. Two independent investigators collected the data from the Hospital for Sick Children Encephalocele Database and hospital charts. Developmental assessments were made by general pediatricians and neuropsychologists. Both univariate analysis (alpha=0.10) and multivariable logistic regression analysis (alpha=0.05) were performed.
Eighty-five cases of cephaloceles were identified. The patient group consisted of 48 boys and 37 girls. Sixty-eight lesions were encephaloceles and 17 were meningoceles. The distribution was as follows: frontal (40 lesions), occipital (33), and parietal (12). Associated conditions included hydrocephalus (23), seizure disorder (17), microcephaly (6), corpus callosal abnormalities (15), heterotopias (9), cerebral dysgenesis (11), and myelomeningocele (1). Evaluation of long-term development revealed that 41 patients (48%) had normal development, 9 (11%) had mild delay, 14 (16%) had moderate delay, and 21 (25%) had severe delay. Hydrocephalus, seizure disorder, microcephaly, presence of associated intracranial abnormalities, and presence of brain tissue were significantly associated with poor outcome on univariate analysis. Multivariable analysis revealed hydrocephalus and presence of intracranial abnormalities to be statistically significant predictors of developmental delay.
To the authors' knowledge, this is one of the largest North American cephalocele series documented. Unlike prior studies, location of the cephaloceles is not a significant predictor of outcome. The multivariable regression analysis demonstrates hydrocephalus and the presence of associated intracranial abnormalities as variables with cumulative predictive effects for developmental delay.
Fifty-two patients with an occipital encephalocele were managed at our institution between 1971-1990 inclusive. The case notes of fifty-one patients were available for review. Thirty-four of the patients presented in the first decade of the study. Fifty-seven per cent (29) developed hydrocephalus and 18 of these required shunting. The overall one year mortality was 23% (12) but only one patient died within the last decade. Of 23 patients followed up by postal questionnaire to general practitioners; 14 had no obvious deficit and 9 had a combination of deficits. Only one death occurred after one year of life in a child with a very severe handicap.
This retrospective review identified all cases of isolated ventriculomegaly (without spina bifida), encephalocele and microcephaly in approximately 22,000 consecutive patients through the Ultrasound Department at the University of British Columbia, Grace Hospital. 17 cases of isolated ventriculomegaly, 16 cases of microcephaly and 6 cases of encephalocele were identified. Isolated ventriculomegaly and encephalocele were accurately diagnosed prenatally while microcephaly was not consistently identified prenatally. Patients with isolated ventriculomegaly had a positive family history for cranial abnormalities in 24%. The prognosis is difficult to predict for fetuses with ventriculomegaly, but severe ventriculomegaly generally produced a poor outcome while mild or moderate ventriculomegaly resulted in normal development or marginal developmental delay. Chromosome analysis is recommended in all patients with central nervous system lesions and viral studies are recommended with ventriculomegaly and microcephaly.
Meningomyelocele/encephalocele with associated ventriculomegaly can be treated as a single-stage procedure (i.e., both lesions treated simultaneous) or as two-stage procedures (i.e., each lesion treated at a separate time). A delay in closure of the meningomyelocele/encephalocele is associated with a higher incidence of ventriculitis/ventricular shunt infection-particularly when closure is performed more than 36 h after birth. In these situations, closure followed by surveillance cultures, appropriate antibiotics, ventricular drainage, and then delayed ventricular shunting seems more reasonable.
This report describes long-term operative outcome of 24 cases with occipital encephalocele. The follow-up periods are between 4 and 20 years. Of the 24 patients with occipital encephalocele, two have died. Of the 22 living patients, 16 are living without neurological deficit, while six are disabled mentally and/or physically. Four cases of encephalocele developed hydrocephalus, and two of them died while the other two are still living with severe handicap. The presence of gross brain tissue in the sac of encephalocele and the size of the sac were also unfavorable factors for the prognosis. We conclude that the size and the content of the sac and associated hydrocephalus are the important factors that influence the long-term prognosis of occipital encephalocele.
We report a series of 46 children who were treated for one of the diverse forms of cranium bifidum during a period of 22 years. The purpose of the survey was to investigate pathogenetic factors involved in the development of cranial dysraphism and to analyze clinical and pathological factors that influence the patients' outcome. We also investigated the existence of associated intracranial anomalies, in a systematic way, using modern methods of neuroimaging, and related the findings to the patients' final results. The lesions were classified as encephalocele (n = 15), cranial meningocele (n = 3), atretic cephalocele (n = 26), cranium bifidum occultum (n = 1), and exencephaly (n = 1). There was an excess of the atretic form of cephaloceles in our series, a fact that probably reflects geographical variations described for cephaloceles in general. The location of the lesions was occipital in 29 children, parietal in 16, and temporal and frontobasal in one case each. In seven cases there was parental consanguinity. A familial history of malformations of the central nervous system was encountered in eight instances. Associated systemic abnormalities were present in 23 patients, while central nervous system anomalies were found in 36 children. Cephalocele repair was undertaken on 35 occasions. There were no surgical fatalities in the series. The mean follow-up time was of 7 years. Overall mortality for the whole group was of 17/46 or 36%. Twenty of the 29 survivors had no neurological sequelae, but only 18 children exhibited a competitive intelligence level. A good outcome was found to correlate well with: an average head size at birth, a normal initial neurological condition, operability of the lesions, and an absence of disorders of the neuronal migration. Neurological outcome depended also on the occurrence or not of hydrocephalus, while the intelligence level was mainly related to the absence of cerebral tissue within the sac of the malformation.
The following conclusions can be drawn from this investigation: (1) There is an 80% incidence of hydrocephalus in association with meningomyelocele and encephalocele in infants. This hydrocephalus can usually be detected in the first few days or weeks of life, even if the size of the head is not larger than normal, and other signs of increased intracranial pressure are not present. (2) The incidence of hydrocephalus is far higher in infants whose meningomyelocele involves the lumbar region, than when it involves other sites, and is far higher if there is associated paraplegia; 96% of infants with paraplegia and a lumbar meningomyelocele, and 95% of infants whose head circumference was over the 90th percentile in the first few weeks of life had radiologically demonstrable hydrocephalus. (3) There is no evidence that repair of the meningomyelocele in the early neonatal period influences the development of hydrocephalus. No infant who did not have hydrocephalus at the first examination developed clinical or other evidence of hydrocephalus during a period of follow-up lasting up to 23 months. (4) It is desirable to perform routine ventriculography in babies with meningomyelocele as soon as possible after birth. This is of great prognostic value and is useful as a guide to treatment.
Anterior encephalocele is a rarely reported CNS malformation with a geographical predilection for South-East Asia. The paucity of literature prompted us to analyse our results with hemiorbital advancement and classical Tessier's operation in 103 cases over 32 years (1971-2002). In our series, the frontoethmoidal subtype was the most common (80%), followed by the orbital (8%), transethmoidal (8%), transsellar (3%) and interfrontal types (1%). All patients with classical frontoethmoidal encephalocele had swelling over the nose or inner canthus since birth, with varying degrees of hypertelorism; and those with the nasopharyngeal subtype commonly presented with nasal obstruction and cerebrospinal fluid (CSF) rhinorrhoea. Neurofibromatosis was present in seven patients, all of whom had an orbital encephalocele. The diagnostic workup included a computerised tomography scan of the head in 96 patients and magnetic resonance imaging of the brain in 16 patients. The associated findings on imaging were hydrocephalus (15%), corpus callosum agenesis (7%), arachnoid cyst (3%), porencephalic cyst (3%) and single ventricle (3%). A classical Tessier's operation was performed in the initial 30 cases. However, since 1988, we have been performing a single stage hemiorbital advancement and repair of the encephalocele. There were three deaths, one due to pneumonia and two due to fulminant meningitis. Twenty-two patients (22%) had postoperative CSF leak, of which five required lumboperitoneal shunt placement. We believe that hemiorbital advancement offers satisfactory results with less morbidity than the Tessier's operation.
Sorry, there is no abstract.
Cephaloceles are common malformations of the central nervous system. However, the great majority of clinical experiences in large occipitocervical cephaloceles have not been reported previously. The purpose of this report is to investigate the pathogenetic factors involved in the development of cranial dysraphism and to analyze the clinical and pathological factors that influence the outcome in patients.
Three hundred and twenty infants with craniospinal dysraphism and 12 with large occipitocervical cephaloceles were admitted to our institution in a 10-year interval between 1995 and 2005. Infants with cephaloceles, including newborns and 5 within the first year of life, were all operated by two authors in our institution, and they were analyzed retrospectively.
The sex predilection was limited to occipitocervical cephaloceles, where 8 of the 12 cases were females. Hydrocephalus was present in 25% of the patients at the time of diagnosis. Clinical presentation was most often consistent with hydrocephalus, focal neurological findings being a less prominent feature. Associated congenital anomalies were present in 50% of the children. Contemporary neuroimaging techniques including computed tomography and magnetic resonance imaging facilitated the diagnosis. Patients were initially managed by posterior fossa or cervical region exploration, followed by sac excision. Three cases died in the early postoperative period, and the surgical mortality in this series was 25%. They were the ones with the largest encephaloceles and microcephaly. The mean follow-up time was 3.4 years. The overall mortality rate for the whole series was 33.3% (4/12). The size of the cephaloceles and the presence or absence of neural tissue in the sac largely determines the outcome for patients with occipitocervical cephaloceles.
Infants with lesions greater than 50 mm in diameter, containing a significant amount of neural tissue, have an extremely poor prognosis, especially if associated with microcephaly.
Association of hydrocephalus with neural tube defect: our experience with the surgical treatment in one or in two operative stages (on separate days)
- D S Zabsonre
- H Lankoande
- Cfc Zoungrana-Ouattara
- Zabsonre DS
Two hundred thirty-six children with developmental hydrocephalus: causes and clinical consequences
- H M Tully
- G E Ishak
- T C Rue
- Tully HM
Giant occipital meningocele in an 8-year-old child with Dandy-Walker malformation
- G Talamonti
- M Picano
- A Debernardi
- M Bolzon
- M Teruzzi
- D Aliberti
- Talamonti G
Talamonti G, Picano M, Debernardi A, Bolzon M, Teruzzi
M, D'Aliberti G. Giant occipital meningocele in an 8-yearold child with Dandy-Walker malformation. Childs Nerv
Syst. 2011; 27(1): 167-174.
The child with a cephalocele: etiology, neuroimaging, and outcome
- J F Martínez-Lage
- M Poza
- J Sola
- Martínez-Lage JF
A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries
- C Inan
- Cenk Sayin
- N Gurkan
- Inan C