Search

Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes., Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III. These seven cases were included in the study, and their medical records were reviewed retrospectively to assess clinical, radiological, surgical, and postoperative follow-up data., Results: Seven newborns with giant occipital encephalocele and Chiari malformation type III were treated at our institution, including five females and two males. All cases were diagnosed prenatally via ultrasound, and none of the mothers had taken folic acid regularly. Six infants underwent surgical resection with duroplasty within 48 h, achieving good outcomes. The seventh infant, with respiratory difficulties, hypotonia, and large ventricular septal defect(VSD), was unfit for surgery and passed away at two weeks. Long-term follow-up up to 24 months showed all surviving infants met developmental milestones, though mild delays in walking, speech, and unsteady gait were noted., Conclusion: Giant encephalocele with Chiari malformation is a rare condition that requires a multidisciplinary approach for effective management. Unlike smaller encephaloceles, giant ones may have a better prognosis due to the large volume of cerebrospinal fluid (CSF) in the herniated sac, which helps prevent further neural tissue herniation. Prenatal diagnosis is essential, and folic acid supplementation should be encouraged. Early surgical intervention is crucial for optimal outcomes., Competing Interests: Declarations. Ethical approval: The study was approved by the Jordan University of Science and Technology (JUST) Institutional Review Board (IRB) with Ethical Approval number 92/164/2023. Additionally, the patient's father provided written informed consent for the publication of his child's photos. Conflict of Interest: The authors declare no competing interests., (© 2025. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Congenital meningoencephaloceles of the anterior skull base (ASB) are rare lesions that become evident during childhood and, if not properly diagnosed and treated, can be associated with severe complications. In the past, encephaloceles were treated exclusively with open surgical approaches, which, however, are associated with high complication rates. Recent years have seen the large-scale introduction of transnasal endoscopic approaches to the skull base, and several Authors suggest that endoscopic resection and repair in cases of meningoencephalocele may be the treatment of first choice, being associated with lower complication rates and reduced operative time compared with open procedures. We illustrate step-by-step the transnasal endoscopic treatment of congenital meningoencephalocele and repair of ASB defect by multilayer technique., Competing Interests: Declaration of competing interest The present authors have no financial relationship to disclose. All of the authors have read and approved the manuscript., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Temporal encephaloceles (TEs) are herniations of cerebral parenchyma through structural defects in the floor of the middle cranial fossa. They are a relatively common, but only relatively recently identified potential cause of drug-resistant epilepsy. Uncontrolled epilepsy is associated with many negative long term health consequences including a heightened risk of death. The most effective treatment for drug-resistant epilepsy is surgery. One of the most predictive factors associated with successful surgery is identification of an abnormality on imaging. However, TEs can be difficult to detect and are often overlooked on neuroimaging studies. Improving our ability to accurately detect TEs by MRI is an important step in improving surgical outcomes in patients with drug-resistant epilepsy. We performed a review on existing imaging modalities for detecting TEs and report on our attempt to use a voxel-based morphometry (VBM) algorithm to detect TEs in T1-weighted MRIs of 81 patients from a database comprised of 25 patients with confirmed encephaloceles and 56 controls. Our program's sensitivity and specificity were compared to those of two neuroradiologists and two epileptologists using visualization during surgery as the gold standard. On average, the neuroradiologists and epileptologists had sensitivities of 41 % and 58 % and specificities of 81 % and 60 % while our VBM-based approach had sensitivities and specificities ranging from 11 % to 50 % and 0.2 % to 17 %, respectively. This work provides an overview of the different imaging modalities utilized in the detection of TEs and highlights the difficulties associated with their detection for both experienced physicians and cutting-edge computational methods. Our findings suggest that VBM-based methods could potentially be used to enhance clinicians' ability to detect TEs thereby facilitating surgical planning, improving surgical outcomes by allowing for more specific targeting, and bettering the long-term health and well-being of patients with drug-resistant epilepsy secondary to TEs., Competing Interests: Declaration of competing interest None of the authors has any conflict of interest to disclose., (Copyright © 2024. Published by Elsevier Inc.)

Sphenoid wing dysplasia is a characteristic finding in children with neurofibromatosis type 1 (NF1). Some of these children develop proptosis and vision loss secondary to the spheno-orbital encephalocele. A 6-year-old boy presented to us with complaints of painless progressive uni-ocular vision loss and progressive pulsatile proptosis. Imaging revealed spheno-orbital encephalocele into the orbit through the dysplastic posterior orbital wall. 3D printed customized implant was designed and placed to fit the defect. This prevented further herniation of the temporal lobe into the orbit, leading to reduction of proptosis and improvement in vision of the child., Competing Interests: Declarations. Consent to participate: Patient’s parents’ consent was taken to publish radiological and intraoperative images. Patient’s identity is not revealed in the paper. Conflict of interest: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Acute fulminant cerebral edema is a type of rapidly progressive encephalitis that occurs in children and is associated with significant morbidity and mortality. We present a clinical case with seizures, rapid neurological deterioration and the early appearance of cerebral herniation signs. Although the radiological tests were initially normal and there are no established parameters that predict the evolution of encephalitis to a rapidly progressive subtype, the clinical evolution forced to consider the decompressive craniectomy due to the lack of response to the medical management of the cerebral edema. It may be necessary take a brain biopsy to confirm the etiology of the encephalitis origin of acute fulminant cerebral edema. The objective of surgery should be not only to increase survival, but also to reduce subsequent neurological sequelae., (Copyright © 2024 Sociedad Española de Neurocirugía. Published by Elsevier España, S.L.U. All rights reserved.)

Objective: Hindbrain herniation (HH) is a clinical prerequisite for prenatal repair of myelomeningocele/myeloschisis; however, a subset of patients lack HH on initial fetal imaging and may ultimately progress to exhibit herniation on subsequent prenatal or postnatal imaging. The authors sought to explore the cohort of patients without HH at the time of initial fetal consultation for myelomeningocele/myeloschisis repair to define their clinical characteristics and outcome., Methods: From July 2016 to July 2022, patients evaluated at the Children's Hospital of Philadelphia Center for Fetal Diagnosis and Treatment for myelomeningocele/myeloschisis were classified into two cohorts: those with and those without HH. The diagnosis of HH was obtained from prenatal and postnatal MRI. The osseous lesion level, prenatal sac volume, and prenatal ventricular size was obtained from fetal ultrasound. The fronto-occipital horn ratio was measured on the first postnatal ultrasound. Ambulation status was obtained from postnatal evaluation in the spina bifida clinic., Results: A total of 176 patients with prenatal HH had postnatal follow-up, of whom 95 (54%) had HH resolution and 81 (46%) had herniation persistence. Of 73 patients without prenatal HH, 9 (12%) had herniation on subsequent prenatal imaging while 64 (88%) had no herniation on prenatal imaging. Of these 64 patients, 11 (17%) had postnatal HH, 32 (50%) had no postnatal herniation, and 21 (33%) were lost to follow-up or the pregnancy was terminated. For patients without HH throughout, the sac volume was larger (9 cm3) than those who had herniation progression or initial herniation; however, the rate of talipes was not significantly different among the groups. The majority of patients were also ambulators (with assistive devices or independent), and the atrial diameter was also < 10 mm for most patients. Overall, 53% of those with initial HH compared with 35% with progression of herniation required CSF diversion, while only 25% of those without herniation required diversion., Conclusions: This study demonstrates the natural history of HH in patients with a prenatal diagnosis of myelomeningocele/myeloschisis. The majority of patients without any herniation had larger sac sizes but not higher rates of talipes and smaller ventricles and were ambulatory. These findings improve the ability to guide families during prenatal consultation.

Background and Objectives: Anterior basal encephaloceles are considered a rare entity and are often associated with midline cerebral abnormalities. Those with a large skull base defect and herniation of brain parenchyma in the neonate or young infant present unique challenges for surgical management., Methods: We analyzed the neurosurgical administrative and operative databases between 1986 and 2022 to determine clinical presentation, operative approach, and outcome of basal encephaloceles., Results: Over the 36-year period, 27 pediatric anterior basal encephaloceles were managed, of which 22 had full documentation and images allowing comprehensive review. Mean age at presentation was 5 years (SD 4.94). The majority were transethmoidal encephaloceles (59%), followed by the transsphenoidal-sphenoethmoidal type (32%). Overall, 91% were managed surgically by a transcranial, endoscopic, or combined approach. Four children required subsequent procedures, predominantly for persistent cerebrospinal fluid leak. No significant differences in proportion of patients requiring interval/revision surgery after initial conservative, endoscopic endonasal, or transcranial surgery was identified. Neither age at surgery nor size of the defect on computed tomography scan was associated with the need for revision surgery. Size of cranial defect was significantly smaller in the endoscopic group ( P = .01). There was a historic tendency for younger children with larger defects to have a transcranial approach. With the addition of endoscopic skull base expertise, smaller defects in older children were more recently treated endoscopically., Conclusion: Basal encephaloceles are rare and complex lesions and are optimally managed within a skull base multidisciplinary team able to provide multiple approaches. Large skull base defects with brain parenchymal involvement often require a transcranial or combined transcranial-endoscopic approach., (Copyright © Congress of Neurological Surgeons 2024. All rights reserved.)

Objective: Fetal occipital cephaloceles display significant morphologic heterogeneity resulting in variable cognitive and survival outcomes. The purpose of this study was to determine if specific imaging findings could provide predictive information on the clinical outcomes of patients with occipital cephalocele., Methods: We conducted a retrospective review of fetal occipital cephalocele patients. Fetal and post-natal imaging studies were evaluated for multiple parameters including: cephalocele size, ellipsoid volume, herniation of various neural tissues, and microcephaly. Based on the presence of certain findings, an imaging score (range: 0-11) and cephalocele grade (range: 0-4) were calculated., Results: Higher fetal and post-natal imaging scores were positively correlated with higher cephalocele grade (p < 0.0001). Higher cephalocele grade was positively correlated with cerebellum and occipital lobe involvement (p < 0.05). A higher fetal cephalocele grade was associated with a significantly high risk of mortality (CI: 15.5-22.10; p < 0.0001)., Conclusion: Higher imaging scores and cephalocele grade were associated with a greater risk of mortality and verbal and motor delays. Imaging factors that appear to play a role in increasing cephalocele grade include involvement of the cerebellum, occipital lobes, and microcephaly. These findings may help counsel parents regarding the post-natal course of patients with occipital cephalocele., (© 2024 John Wiley & Sons Ltd.)

Objective: In this study, the authors assessed an algorithm for the diagnosis and management of idiopathic intracranial hypertension (IIH) in patients who had undergone surgical repair of skull base meningoencephaloceles presenting with spontaneous cerebrospinal fluid (sCSF) leakage., Methods: The authors conducted an institutional retrospective review of patients surgically treated for skull base sCSF leaks between 2014 and 2021. Opening pressure (OP) measurements were taken intraoperatively. The algorithm recommended a ventriculoperitoneal shunt (VPS) for high-risk patients (OP ≥ 30 cm H2O), 4 weeks of acetazolamide plus a 2-week washout and repeat lumbar puncture (LP) at 6 weeks for intermediate-risk patients (OP = 20-29 cm H2O), and repeat LP at 4-6 weeks for low-risk patients (OP < 20 cm H2O). Demographics, radiographic characteristics, management adherence, and outcomes were analyzed., Results: Eighty patients with sCSF leakage were identified. The mean age was 51.9 years, and the mean body mass index was 36.3 kg/m2. The median follow-up was 8.3 months (IQR 3.3-19.7 months). The overall VPS rate was 15.0%. Three patients (3.8%) experienced acute recurrent leakage, and 3 (3.8%) developed remote recurrent leaks (mean time of 48.1 months). For the 50 patients with both intra- and postoperative OPs, the mean OPs were not significantly different (23.3 vs 23.0 cm H2O, respectively, p = 0.82). The mean variability between the two measurements was an absolute difference of 6.6 cm H2O. While 13 patients (26.0%) moved to a higher-risk category based on postoperative OP, 18 patients (36.0%) moved to a lower-risk category., Conclusions: Utilizing an algorithm of direct meningoencephalocele repair and selective shunting, acute and remote CSF leak recurrence rates were each 3.8%, and the VPS rate was 15.0%. These data provide further insight into CSF dynamics in this population and argue against the theoretical concern that CSF pressure will increase postrepair. Significant intraindividual variability suggests multiple LPs may be necessary before committing to invasive IIH treatment. Further work is necessary to determine the optimal IIH management strategy.

Objective: Recurrent cerebrospinal fluid (CSF) rhinorrhea caused by sequential, anatomically separated skull base defects is rarely reported in the literature. Neither management nor etiology has been sufficiently investigated. We present an illustrative case and a systematic review of the literature regarding etiology, diagnostics, and management of this rare phenomenon., Methods: A systematic literature search looking for articles reporting sequential CSF leaks with multiple skull base defects was performed. Data from included articles were descriptively reported, and the quality of the included studies was assessed with Grading of Recommendations Assessment, Development and Evaluation., Results: A 71-year-old woman with posttraumatic CSF rhinorrhea and left-sided CSF otorrhea due to a left-sided horizontal fracture of the petrous bone presented at our institution. After initial surgical repair and a 10-week symptom-free interval, CSF rhinorrhea recurred. Imaging revealed a preexisting contralateral meningoencephalocele of the lateral sphenoid recess causing recurrent CSF rhinorrhea most likely after initial traumatic laceration. The defect was successfully treated. A literature search identified 366 reports, 6 of which were included in the systematic review with a total of 10 cases. Quality was deemed good in 8 of 10 cases. The most common location for primary and sequential CSF leaks was along the sphenoid bone (4/10 and 5/10 patients, respectively). All publications except one reported the presence of a meningo (encephalo)cele as cause of the sequential CSF leak., Conclusions: Occurrence of recurrent CSF rhinorrhea due to an anatomically separated sequential skull base lesion remains a rare phenomenon. Reassessment of imaging studies and a structured diagnostic workup to detect sequential CSF leaks independent of the primary lesion should is recommended., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Any posterior midline cystic or soft tissue scalp mass in an infant needs evaluation with MRI brain and MRV brain to look for intracranial extension of the lesion. One of the differential considerations is an atretic cephalocele, which can be a difficult diagnosis, especially when the cystic lesions are small. The presence of a small calvarial defect adjacent to the cystic mass and a persistent primitive falcine vein, which points towards the cystic mass, are imaging clues to this diagnosis. Correct diagnosis is needed prior to surgical resection to avoid potentially serious postoperative complications., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Competing Interests: The authors report no conflicts of interest.

Objective: To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions., Design: A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data., Setting: The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively., Participants: All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled., Results: The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable., Conclusion: This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities., Trial Registration Number: CTRI/2021/06/034487., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Abstract: In the present study patients with previously diagnosed MRI-negative temporal lobe epilepsy (TLE) on long-term video electroencephalography (VEEG) monitoring were re-evaluated with high resolution 3T MRI brain to look out for a skull base temporal lobe encephalocoele (TE). A total of 234 VEEGs were analyzed. TLE had been diagnosed in 104 patients based on semiology, ictal, interictal EEG data, and brain positron emission tomography (PET) studies. Of these, 99 patients had temporal lobe abnormality (78 had mesial temporal sclerosis, 8 had tumor, 3 had focal cortical dysplasia, and 10 had mixed pathology). Out of the five 1.5T MRI-negative TLE patients, two patients were diagnosed with TE on subsequent 3T MRI brain scans and one patient underwent electrocorticography-guided tailored resection for complete removal of epileptogenic tissue; with Engels class I seizure freedom at one year follow-up. We propose that TE should be carefully searched for, as a cause of refractory TLE, using high-resolution MRI sequences., (Copyright © 2023 Copyright: © 2023 Journal of Postgraduate Medicine.)

Objective: We aimed to assess the ability of semiautomated electric source imaging (ESI) from long-term video-electroencephalographic (EEG) monitoring (LTM) to determine the epileptogenicity of temporopolar encephaloceles (TEs) in patients with temporal lobe epilepsy., Methods: We conducted a retrospective study involving 32 temporal lobe epilepsy patients with TEs as potentially epileptogenic lesions in structural magnetic resonance imaging scans. Findings were validated through invasive intracerebral stereo-EEG in six of 32 patients and postsurgical outcome after tailored resection of the TE in 17 of 32 patients. LTM (mean duration = 6 days) was performed using the 10/20 system with additional T1/T2 for all patients and sphenoidal electrodes in 23 of 32 patients. Semiautomated detection and clustering of interictal epileptiform discharges (IEDs) were carried out to create IED types. ESI was performed on the averages of the two most frequent IED types per patient, utilizing individual head models, and two independent inverse methods (sLORETA [standardized low-resolution brain electromagnetic tomography], MUSIC [multiple signal classification]). ESI maxima concordance and propagation in spatial relation to TEs were quantified for sources with good signal quality (signal-to-noise ratio > 2, explained signal > 60%)., Results: ESI maxima correctly colocalized with a TE in 20 of 32 patients (62.5%) either at the onset or half-rising flank of at least one IED type per patient. ESI maxima showed propagation from the temporal pole to other temporal or extratemporal regions in 14 of 32 patients (44%), confirming propagation originating in the area of the TE. The findings from both inverse methods validated each other in 14 of 20 patients (70%), and sphenoidal electrodes exhibited the highest signal amplitudes in 17 of 23 patients (74%). The concordance of ESI with the TE predicted a seizure-free postsurgical outcome (Engel I vs. >I) with a diagnostic odds ratio of 2.1., Significance: Semiautomated ESI from LTM often successfully identifies the epileptogenicity of TEs and the IED onset zone within the area of the TEs. Additionally, it shows potential predictive power for postsurgical outcomes in these patients., (© 2024 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Spontaneous meningoencephaloceles (MECs) are sparsely documented in the literature. Those occurring in the frontal sinus are an exceedingly rare entity. MECs are commonly associated with cerebrospinal fluid (CSF) rhinorrhoea. CSF rhinorrhoea is frequently misdiagnosed, causing delays in diagnosis and management. The subsequently increased risk of bacterial meningitis can be life-threatening to patients. We report the case of a woman in her late 70s with a spontaneous frontal sinus MEC, presenting with a 6-month history of CSF rhinorrhoea. The patient was successfully treated using the novel Carolyn's window approach endoscopically; 9-month follow-up revealed no skull-base breach. Our case emphasises the importance of considering MEC as a differential diagnosis for clear rhinorrhoea and demonstrates successful repair through a novel surgical approach., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: The purpose of this report is to investigate the association of atretic cephalocele (AC) with sinus pericranii (SP) in order to improve the management of AC., Methods: Pediatric patients with AC who underwent repair surgeries were retrospectively analyzed. Anomalies including SP were evaluated using computed tomography angiography and venography (CTA/V) as well as magnetic resonance imaging., Results: Fourteen patients were identified, comprising of 5 males and 9 females. The AC was located interparietally in 8 cases and occipitally in 6 cases. Seven cases (50%) were found to be associated with SP, all of which did not involve major intracranial venous circulation. Five out of 8 parietal ACs (63%) were accompanied by SP, while 2 out of 6 occipital ACs (33%) exhibited SP. All of the SP associated with AC only contributed to a small portion of the venous outflow, and the repair surgeries were successfully performed without excessive bleeding., Conclusion: More than half of the ACs were associated with SP, with a higher prevalence in the parietal region compared to the occipital region. For the appropriate management of AC, preoperative investigation of SP using CT venography is considered important., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated antenatally. In this report, the authors present a case of Meckel-Gruber syndrome together with Dandy-Walker malformation. A pregnant woman referred at the 28th week of gestation with an abnormal ultrasound scan showing posterior encephalocele and bilaterally enlarged kidneys. Further imaging also indicated communication between the 4th ventricle and posterior cerebellar cerebrospinal fluid space, after which the fetus was diagnosed with Meckel-Gruber syndrome and Dandy-Walker malformation. Pregnancy termination was refused by the parents and the offspring was prematurely born to be the 2nd recurrence of Meckel-Gruber syndrome in this consanguine family. Remarkably, at the 3 different pregnancies, ultrasound was inconclusive before the 7th month of gestation. Though up to date Meckel-Gruber syndrome is ultimately lethal, the lifespan of affected newborns varied greatly. We suggest developing a severity classification to estimate life expectancy in unterminated cases., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: In recent years, temporal lobe encephalocele has become more common in patients with focal drug-resistant epilepsy. Despite available experience, there are still no clear recommendations for choosing the extent of surgery in these patients., Objective: To evaluate the effectiveness of diagnosis and surgical treatment of focal drug-resistant epilepsy associated with temporal lobe encephalocele., Material and Methods: The study included 21 patients with focal temporal lobe epilepsy and temporal lobe encephalocele. All patients underwent continuous video-EEG monitoring and MRI of the brain. There were 12 (57.4%) selective encephalocele resections and 9 (42.6%) anterior temporal lobectomies. The median follow-up period was 31 months., Results: The overall effectiveness of surgical treatment with postoperative Engel class I was 76% (16 cases). Selective encephalocele resection was followed by postoperative Engel class I in 10 patients (83%). There were 6 (67%) patients with similar outcomes after temporal lobectomy. Mean volume of resected tissue adjacent to encephalocele was 8.3 cm 3 ., Conclusion: Surgery is a highly effective treatment for patients with epileptic seizures following temporal lobe encephalocele. In our sample, favorable postoperative outcomes were achieved in 76% of patients (Engel class I). There were no significant differences in effectiveness between selective resection and temporal lobectomy. Further research is necessary for a clear protocol of surgical treatment of focal drug-resistant epilepsy associated with encephalocele.

Background: The prevalence of encephalocele is estimated to be 0.8-5.0 per 10,000 live births. The most frequent encephalocele is the occipital encephalocele. It is a congenital neural tube defect characterized by the protrusion or herniation of intracranial contents through a cranial defect. The term "giant/massive/large encephalocele" is used to describe an encephalocele that is significantly larger than the size of the head., Case Description: A 2-month-old male infant presented in the neurosurgery outpatient department with one of the largest head masses over the posterior aspect since birth. The swelling was gradually progressive and developed ulceration over the swelling with intermittent cerebrospinal fluid (CSF) discharge but no associated weakness in limbs. Magnetic Resonance Imaging (MRI) brain showed a large occipital meningoencephalocele containing predominantly cyst with part of the cerebellar and occipital lobe. The surgery was planned. The sac contained CSF with the gliotic occipital lobe. The sac and gliotic brain tissue was excised. He had an uneventful postoperative course., Conclusion: Surgery serves several functions, including reducing the torque and weight of the head to allow for more normal motor development, removal of the thin, leaking scalp and dural closure to prevent CSF leak and subsequent infection, and improving the cosmetic and social issues that the child and family may have to endure., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Intraorbital encephalocele (OMEC) is a rare entity in adults, usually secondary to an orbital pathology or prior trauma, in particular orbital roof fractures. Treatment of the OMEC is warranted to alleviate the pulsating exophthalmos and prevent potential visual decline. OMEC and orbital roof fractures have been predominantly treated via a craniotomy with a reconstruction of the orbital roof using various implants. With the advances in the endoscopic techniques, neuroendoscopy found its application in the treatment of orbital pathologies. We report a minimally invasive alternative: endoscopic transorbital repair of OMEC., Material and Methods: The repair technique is described with illustrations and clinical images. Narrated operative video demonstrating the procedure is provided., Results: Illustrative case: 50-year-old female presented with progressive right eye proptosis over 6 months. Computed tomography (CT) demonstrated bony erosion in the lateral orbital roof, and magnetic resonance imaging (MRI) showed a small hyperintense T2-weighted and T1-weighted contrast enhancing lesion in the orbit, in the area of the bony erosion. Intraoperatively, the lesion was found to be an orbital encephalocele. The orbital defect was successfully repaired by employing the 'sandwich' technique, in which a dural substitute reinforced with tissue glue were deployed without repair of the osseous orbital roof. The patient tolerated the procedure well with ultimate resolution of proptosis. The cosmetic outcome was excellent., Conclusion: The transorbital neuroendoscopic approach (TONES) presents a feasible, minimally invasive alternative treatment option for circumscribed intraorbital encephaloceles with minimal side effects, well tolerated by patients.

Objective: Encephaloceles (ENCs) may cause clinical complications, including drug-resistant epilepsy that can be cured with epilepsy surgery., Methods: We describe clinical, diagnostic, and neuropathological findings of 12 patients with temporal ENC and epilepsy evaluated for surgery and compare them with a control group of 26 temporal lobe epilepsy (TLE) patients., Results: Six patients had unilateral and 6 bilateral temporal ENCs. Compared to TLEs, ENCs showed i) later epilepsy onset, ii) higher prevalence of psychiatric comorbidities, iii) no history of febrile convulsions, and iv) ictal semiology differences. Seven patients had MRI signs of gliosis, and 9 of intracranial hypertension. Interictal EEG analysis in ENCs demonstrated significant differences with controls: prominent activity in the beta/gamma frequency bands in frontal regions, interictal short sequences of low-voltage fast activity, and less frequent and more localized interictal epileptiform discharges. Ictal EEG patterns analyzed in 9 ENCs showed delayed and slower contralateral spread compared to TLEs. All ENCs that underwent surgery (7 lobectomies and 1 lesionectomy) are in Engel class I. Neuropathological examination revealed 4 patterns: herniated brain fragments, focal layer I distortion, white matter septa extending into the cortex, and altered gyral profile., Conclusions and Significance: The described peculiarities might help clinicians to suspect the presence of largely underdiagnosed ENCs., (© 2023. Fondazione Società Italiana di Neurologia.)

Background: Direct access to the sphenoid lateral recess offers the best chance of sealing spontaneous cerebrospinal fluid (CSF) rhinorrhea caused by lateral sphenoid encephaloceles of the Sternberg canal defect., Method: We present a case of spontaneous left-sided sphenoid lateral recess CSF leak after previous unsuccessful transcranial surgery managed with an endoscopic endonasal transpterygoid approach (EETA). An anatomical-based step-by-step illustration of the EETA was presented in the surgical video., Conclusion: This case demonstrates the value of endoscopic endonasal transpterygoid corridor in the exposure and manipulation of the sphenoid lateral recess., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Objective: In surgical correction of frontoethmoidal encephalocele with transcranial approach, advanced facilities are required. While with extracranial approach, though deemed as a safe option in area with limited facilities, procedure was associated with cerebrospinal fluid (CSF) leakage. In this case series, we evaluate the results of transcele reconstruction of frontoethmoidal encephalocele, our approach to reduce the incidence of CSF leaks by focusing on the closure of layers by its embryological derivatives, by its bone fusion., Methods: A case series of 14 patients with various types of frontoethmoidal encephalocele who underwent surgery for defect closure using transcele approach between June 2015 and December 2018 was carried out. Surgery was done by a single surgeon in the Department of Neurosurgery of Cipto Mangunkusumo Hospital in Jakarta, Indonesia. We collected the data of intraoperative blood loss and any signs of infection and CSF leak during the patients' one-year follow up. Bone fusion in the defect was evaluated from 3D rendering of head CT scan that was performed before and in 1 year after surgery., Results: The median percentage of intraoperative blood loss was 5.9% (0.5-18.7%). All 3D rendering of head CT post-surgery during 1 year follow up showed bone fusion and no patient experienced CSF leaks or CNS infections., Conclusions: This study showed that using transcele approach in frontoethmoidal reconstruction could give good bone fusion with minimal blood loss and no CSF leaks. We assumed that closure of the layers by its embryological derivative played an important part in bone fusion and in reducing the incidence of CSF leaks, although this finding has to be validated with large-scale studies.

Introduction: Torsion of a giant occipital encephalocele leading to necrosis is an extremely rare complication found in neonates with only two such cases reported in literature previously. Infection and ulceration of the necrosed skin may lead to meningitis or sepsis. We present here a neonate with giant occipital encephalocele showing progressive necrosis during the first day of his life., Case Report: A new-born baby, delivered vaginally, with no antenatal imaging was found to have a huge mass in the occipital region, which was covered by normal pink-purplish skin. During the first day of his life, the sac started becoming ulcerated accompanied with a rapid colour change in the skin, gradually turning darker and then black. The pedicle of the encephalocele was twisted with progressive necrosis of the encephalocele. MRI showed a giant encephalocele with single vein draining into the torcula and dysplastic occipital lobe herniating into the defect. The neonate was taken up for urgent excision and repair of the encephalocele. The encephalocele was excised 'in-total' with 'figure-of-8' repair of the meninges. One year after the operation, she 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 encephalocele may be another predisposing factor. In view of the risk of meningitis and rupture, immediate surgery with repair with minimal blood loss is indicated., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: This study sought to evaluate the impact of surgical extent on seizure outcome in drug-resistant temporal lobe epilepsy (DR-TLE) with temporal encephaloceles (TE)., Methods: This was a single-institution retrospective study of patients who underwent surgery for DR-TLE with TE between January 2008 and December 2020. The impact of surgical extent on seizure outcome was evaluated. In a subset with dominant DR-TLE, the impact of surgical extent on neuropsychometric outcome was evaluated., Results: Thirty-four patients were identified (female, 56%; median age at surgery, 43 years). TE were frequently overlooked on initial magnetic resonance imaging (MRI), with encephaloceles only detected after repeat or expert re-review of MRI, additional multi-modal imaging, or intra-operatively in 31 (91%). Sixteen (47%) underwent limited resections, including encephalocele resection only (n = 5) and encephalocele resection with more extensive temporal corticectomy sparing the amygdala and hippocampus (n = 11). The remainder (n = 18, 53%) underwent standard anterior temporal lobectomy and amygdalohippocampectomy (ATLAH). Limited resection was performed more frequently on the left (12/17 vs. 4/17, p = 0.015). Twenty-seven patients (79%) had a favourable outcome (Engel I/II), and 17 (50%) were seizure-free at the last follow-up (median seizure-free survival of 27.3 months). There was no statistically significant difference in seizure-free outcomes between limited resection and ATLAH. In dominant DR-TLE, verbal memory decline was more likely after ATLAH than limited resection (3/4 vs. 0/9, p = 0.014)., Conclusion: Expert re-review of imaging and multi-modal advanced imaging improved TE identification. There was no statistical difference in seizure-free outcomes based on surgical extent. Preservation of verbal memory supports limited resection in dominant temporal cases., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Kelsey Smith reports a relationship with CURE Epilepsy that includes: funding grants. Jamie Van Gompel has patent licensed to Cadence Neuroscience, which is co-owned by Mayo Clinic. Investigator for the Medtronic EPAS trial, SLATE trial, and Mayo Clinic Medtronic NIH Public Private Partnership (UH3-NS95495), also with consulting contract. Stock Ownership and Consulting Contract with Neuro-One Inc. Site Primary Investigator in the Polyganics ENCASE II trial. Site Primary Investigator in the NXDC Gleolan Men301 trial. Site Primary Investigator in the Insightec MRgUS EP001 trial. -Jamie Van Gompel SEER Medical – Inventor agreement-Jeffrey Britton., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Proboscis lateralis is a rare craniofacial anomaly in which a rudimentary nasal appendage arises at the medial canthal area. The severity depends on organ involvement, including eyes, nose, cleft lip/palate, and/or concomitant intracranial anomalies. Here, we present a child with proboscis lateralis and associated trans-ethmoidal encephalocele. We suggest doing the preoperative CT and/or MRI to rule out associated intracranial anomalies and reliably preoperative planning tools. Moreover, we proposed an alternative nasal reconstructive technique using a composite graft from the proboscis mass at the same time as encephalocele repair with promising results.

Objectives: To evaluate ancillary MRI features which may aid the identification of lateral temporal bone cephaloceles (LTBCs)., Methods: A retrospective cohort study analysed patients with MRI evidence of surgically confirmed spontaneous LTBCs as defined by intracranial contents traversing the tegmen tympani or mastoideum. Cases were identified from radiology and surgical databases. Two observers analysed three-dimensional T 2 W temporal bone and whole brain imaging according to a priori criteria by consensus, with emphasis on the relationship of any adjacent cerebrospinal fluid (CSF) cleft to the defect. The contents, location, and clinical features of the LTBCs were recorded., Results: Eighteen patients (11 female, 7 male; mean age 59.3 years, age range 42-86 years) with 20 surgically confirmed spontaneous LTBCs (2 bilateral;16 unilateral) were evaluated. A temporal lobe sulcus or other CSF cleft extending to or traversing the defect was identified in 19/20 (95%) cases. Isointense CSF tympanomastoid signal was present in 41.2% cases, whilst superior semi-circular canal dehiscence was found in 40% of cephaloceles. At least two MRI features of idiopathic intracranial hypertension were seen in 38.9% patients. Cephaloceles were most commonly centred on the tegmen tympani (55%). Meningoencephaloceles were present in 95% cases., Conclusion: A temporal lobe sulcus or CSF cleft extending to or traversing the defect may aid the identification of LTBCs. Isointense CSF tympanomastoid signal, superior semi-circular canal dehiscence and MRI features of idiopathic intracranial hypertension are only present in under half of LTBCs., Advances in Knowledge: The study details novel ancillary MRI features of LTBCs which may aid their identification.

Tonsillar herniation is a rare and seldom reported complication after lumboperitoneal (LP) shunting. There have been only few reports that have presented possible options for treatment with varying degrees of success. In this report, we describe a rare case of tonsillar herniation after LP shunting and review related literature.A 17-year-old girl with hydrocephalus related to a traumatic brain injury underwent implantation of an adjustable pressure shunt (valve setting2.5) and a small lumen peritoneal catheter via the L4-L5 interspinal space. One month later, she was admitted to the emergency room with a Glasgow Coma Scale score ofE1M1Vt and dilated pupil. Image studies demonstrated new-onset tonsillar herniation and a mild cervical syrinx. Emergent suboccipital decompressive craniectomy, C1 laminectomy, and duraplasty were performed. This was followed with ligation of the LP shunt and implantation of a ventriculoperitoneal (VP) shunt a few days later. The patient's Glasgow Coma Scale score gradually recovered to 6, which was her previous neurologic status.Tonsillar herniation as a complication after LP shunting is best treated with decompression, ligation or removal of the LP shunt, and a shift to a VP shunt. The tonsillar herniation should be rapidly addressed to avoid persistent symptoms or progression of the neurologic deficits.

This report describes the clinical, computed tomography, and magnetic resonance imaging findings for a Jacob sheep lamb diagnosed with meningoencephalocele and supernumerary ectopic limb. Key clinical message: This case demonstrates the utility of tomographic imaging in diagnosing congenital malformations in sheep and can be used to assess the extent of the lesion. This may help to determine any viable treatment, or, as in the case presented here, determine that the extent of the lesion precludes surgical intervention., (Copyright and/or publishing rights held by the Canadian Veterinary Medical Association.)

Competing Interests: None declared

Objective: Encephaloceles of the lateral sphenoid sinus are rare. Originally believed to be due to defects in a patent lateral craniopharyngeal canal (Sternberg canal), they are now thought to originate more commonly from idiopathic intracranial hypertension, not unlike encephaloceles elsewhere in the skull base. A new classification of these encephaloceles was recently introduced, which divided them in relation to the foramen rotundum. Whether this classification can be applied to a larger cohort from multiple institutions and whether it might be useful in predicting outcome is unknown. Thus, the authors' goal was to divide a multiinstitutional cohort of patients with lateral sphenoid encephaloceles into four subtypes to determine their incidence and any correlation with surgical outcome., Methods: A multicenter retrospective review of prospectively acquired databases was carried out across three institutions. Cases were categorized into one of four subtypes (type I, Sternberg canal; type II, medial to rotundum; type III, lateral to rotundum; and type IV, both medial and lateral with rotundum enlargement). Demographic and outcome metrics were collected. Kaplan-Meyer curves were used to determine the rate of recurrence after surgical repair., Results: A total of 49 patients (71% female) were included. The average BMI was 32.8. All encephaloceles fell within the classification scheme. Type III was the most common (71.4%), followed by type IV (16.3%), type II (10.2%), and type I (2%). Cases were repaired endonasally, via a transpterygoidal approach. Lumbar drains were placed in 78% of cases. A variety of materials was used for closure, with a nasoseptal flap used in 65%. After a mean follow-up of 47 months, there were 4 (8%) CSF leak recurrences, all in patients with type III or type IV leaks and all within 1 year of the first repair. Two leaks were fixed with ventriculoperitoneal shunt and reoperation, 1 with ventriculoperitoneal shunt only, and 1 with a lumbar drain only. Of 45 patients in whom detailed information was available, there were 12 (26.7%) with postoperative dry eye or facial numbness, with facial numbness occurring in type III or type IV defects only., Conclusions: Endoscopic endonasal repair of lateral sphenoid wing encephaloceles is highly successful, but repair may lead to dry eye or facial numbness. True Sternberg (type I) leaks were uncommon. Failures and facial numbness occurred only in patients with type III and type IV leaks.

Purpose: Occipital encephalocele (OE) is one of congenital malformation of the central nervous system. However, giant OE, mostly defines as bigger-than-head OE, is extremely rare and carries a worse prognosis. Here, we presented our systematic review of the management of the giant OE and illustrated our case., Method: The systematic review was carried out under PRISMA guidelines. Publications were searched under "occipital encephalocele" from 1959 to April 2021. Our primary area of interest was the outcome of patients who have undergone surgery for giant OE. Variables of interest included age, sex, size of the sac, presentations, associated anomalies, management, outcome, and follow-up period were collected., Result: We collected 35 articles, consisting of 74 cases (including 1 case from our illustrative case), to perform a systematic review. The mean age at the time of surgery was 3.53 ± 8.22 months. The mean circumference of the sac was 52.41 ± 18.6 cm. The three most common associated anomalies were microcephaly, corpus callosal agenesis/dysgenesis, and Chiari malformation. After the surgery, survival was reported in 64 (90.1%) patients. Postoperative complications were reported in 14 cases (16 events). Age above 1 month at the time of surgery was significantly associated with survival (p = 0.02) but not with complication (p = 0.22). In contrast, the type of surgery was not associated with survival (p = 0.18) or complications (p = 0.41)., Conclusion: Despite a rare condition with a poor prognosis, our reported case and systematic review revealed promising outcomes of surgery regardless of surgical strategies, especially in patients older than 1 month. Thus, appropriate planning is essential for the treatment of this condition., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s) by the detached fibrous amniotic band. The prevalence of CNS involvement in ABS is rare, but the mortality rate in these cases is high, while morbidity among the surviving patients is inevitable., Case Report: Three-month-old male, 9-month-old female, and newborn female babies were presented with head lump(s), severe facial cleft, syndactyly, and finger amputation. The patient's head imaging confirmed meningoencephalocele as the cause of the head lump in 2 patients; meanwhile, a porencephalic cyst was identified as the origin of head lumps in the other patient. VP shunt placement surgery was performed as the initial management in 2 patients, while one patient directly underwent meningoencephalocele resection surgery. Craniofacial and limb reconstructions were planned as the follow-up management in all cases. Unfortunately, one patient died of complications from suspected aspiration, while another never returned for follow-up treatment., Conclusion: Here, we report 3 ABS cases with CNS involvement. Despite the severe disfigurement and disability, the inexistence of fatal malformation might lead to long-term survival. The treatment of malformation(s) that might predispose to another fatal condition and surgery(-ies) to improve functional outcomes and patient's social acceptability should be prioritized in managing the surviving ABS patients., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Trans-sellar trans-sphenoidal encephalocele is a rare congenital anomaly, with only around 20 cases having been documented in literature around the world. Surgical repair of these defects in the pediatric population commonly uses either the transcranial or the transpalatal approach, with the choice of approach being individualized based on the clinical features, age, and associated defects present in the patient. Here, we document a case of a 4-month-old child who presented to us with nasal obstruction, who was diagnosed with this rare entity and successfully underwent a transcranial repair for the same. We also provide a systematic review of all existing case reports that have described this rare condition in the pediatric population, as weel as the different surgical approaches used in each case., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: The repair of lateral sphenoid sinus cerebrospinal fluid leaks is routinely accomplished through the use of the endonasal endoscopic approach (EEA) with a transpterygoidal extension. This approach can incur sinus morbidity, damage to the vidian, palatine and trigeminal nerves, and the contents of the pterygopalatine fossa, particularly if the encephalocele is lateral to the foramen rotundum (FR) and V2., Objective: To investigate the use of the lateral transorbital approach (LTOA) as an alternative approach for repair of lateral sphenoid sinus encephaloceles that avoids the potential morbidity of EEA., Methods: We performed cadaveric dissections of 2 specimens (4 sides) and present one of the first cases of a lateral sphenoid sinus encephalocele repair lateral to the FR in a patient through an ipsilateral LTOA., Results: We find that the LTOA provides a shorter distance to target compared with the EEA (56 vs 89.5 mm, P = .002). The LTOA field of view also affords excellent visualization of both the medial and lateral aspects of V2, whereas the EEA is less effective at exposing lateral to V2, even after sacrifice of the vidian nerve and maximal pterygopalatine fossa content retraction. We report a case of LTOA to repair a meningoencephalocele lateral to V2 in the sphenoid sinus., Conclusion: The LTOA to the foramen rotundum is a more direct approach that minimizes the morbidity associated with EEA to repair meningoencephaloceles both medial and lateral to foramen rotundum., (Copyright © Congress of Neurological Surgeons 2023. All rights reserved.)

Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article.

In this study, we present the first case with cerebellar herniation into the internal acoustic canal in incomplete partition type I anomaly. Cerebellar herniation into the internal acoustic canal is very rare with only a few cases reported in the literature. Although it is a rare clinical situation, cerebellar herniation into the internal acoustic canal may be seen in patients with incomplete partition type I. We presented magnetic resonance imaging findings of a 3-year-old girl with a history of meningitis, middle ear effusion, and bilateral congenital sensorineural hearing loss. Magnetic resonance imaging showed bilateral incomplete partition type I malformation and an additional flocculus herniation into the right internal acoustic canal. In the presented case, predisposition to cerebrospinal fluid leak in incomplete partition type I anomaly may be the reason for cerebellar herniation into internal acoustic canal. Also, possible increased intracranial pressure due to meningitis may be a contributing factor.

Background: Congenital basal meningoceles and encephaloceles are rare pathologies that may present in isolation or with characteristic-associated clinical features. Rarely, children with congenital midline defects may present with massive encephaloceles secondary to anterior cranial fossa agenesis. Traditionally, transcranial approaches with frontal craniotomies were used to reduce the herniated contents and repair the skull base defect. However, high rates of morbidity and mortality associated with craniotomies have favored the development and adoption of less-invasive techniques., Objective: To present a novel technique for combined endoscopic endonasal and transpalatal repair of a giant basal meningocele through an extensive sphenoethmoidal skull base defect., Methods: A representative case of congenital anterior cranial fossa agenesis with a giant meningocele was selected. Clinical and radiological presentations were reviewed, and the intraoperative surgical technique was documented and recorded., Results: A surgical video highlighting each surgical step was included to complement the description of the technique. The surgical outcome from the selected case is also presented., Conclusion: This report describes a combined endoscopic endonasal and transpalatal approach to repair an extensive anterior skull base defect with herniation of intracranial content. This technique capitalizes on the advantages of each approach to address this complex pathology., (Copyright © Congress of Neurological Surgeons 2023. All rights reserved.)

Introduction: ERF mutation is one of the most recently identified genetic aberrations associated with syndromic craniosynostosis. Data on the pattern of craniosynostosis, surgical management of ERF-related craniosynostosis and outcomes is limited. We report on our single-centre experience in paediatric cohort of patients with syndromic craniosynostosis secondary to ERF mutation., Methods: A retrospective review of all paediatric craniofacial cases was performed over an 8-year period (2014-2022). All patients with genetically confirm ERF-related craniosynostosis were identified, and clinical parameters including, age, sex, pattern of craniosynostosis, associated tonsillar herniation and follow-up period were further analysed from electronic clinical and imaging systems. All patients were selected and discussed in multidisciplinary craniofacial meeting (composed of neurosurgical, maxillofacial, plastics and genetics teams) prior to any surgical intervention., Results: Overall, 10 patients with ERF-related craniosynostosis were identified with a male-to-female ratio of 4:1 with mean age at the time of surgery of 21.6 months with a mean follow-up period of 5.2 years. ERF-confirmed cases led to variable craniosynostosis pattern with multi-sutural synostosis with concurrent sagittal and bilateral lambdoid involvement as the most common pattern (7/10). No patient pre-operatively had evidence of papilloedema on ophthalmological assessment. Eight out of 10 patients had associated low-lying tonsils/hind brain hernia pre-operatively. Eight out of 10 patients required surgery which included 2 fronto-orbital advancement, 3 calvarial remodelling, 2 posterior calvarial remodelling/release and 1 insertion of ventriculoperitoneal shunt., Conclusion: Involvement of sagittal and lambdoid sutures is the most common pattern of craniosynostosis. ERF-related craniosynostosis can have variable pattern of suture fusion, and management of each patient requires unique surgical planning and execution based on clinical needs for the optimal outcomes., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: To provide an analysis of patients with spontaneous skull base meningoencephaloceles (MECs) to determine whether definitive surgical treatment requires management of elevated intracranial pressure (ICP)., Methods: Data of 10 subjects with spontaneous MECs were collected and retrospectively evaluated. Measurement of ICP, prior interventions, treatment with acetazolamide, and characteristics of long-term elevated ICP, among others, were analyzed. Our own indications for cerebrospinal fluid (CSF) diversion and use of postoperative external lumbar drain were analyzed as well., Results: The sphenoid region was the most common location of MECs. CSF leak was diagnosed in all subjects. The most common graphical signs of elevated ICP were empty sella and arachnoid pits, both of which were present in 90% of cases. Lumbar puncture with opening pressure measurement was performed in 7 patients. Ventriculoperitoneal shunt insertion was indicated in 4 cases before skull base repair and in 2 cases after skull base repair. Two postoperative CSF leaks were managed with external lumbar drain and subsequent shunt installation., Conclusions: Spontaneous MECs are often associated with CSF leak. ICP assessment should be a standard of care to ensure successful operative repair of MECs. Insertion of a CSF diversion device must be considered where direct or indirect signs of intracranial hypertension are present., (Copyright © 2023 Elsevier Inc. All rights reserved.)