Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.

An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound-detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261-2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2, a well-known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2-related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations.

A Female Newborn With Occipital Encephalocele and a Hypoplastic Right Ventricle Secondary to Tricuspid and Pulmonary Atresia: A Case Report.

Encephaloceles and severe cardiac malformations are rare presentations in a newborn. The mechanism of these congenital abnormalities is relatively unknown, but it is hypothesized to be related to genetic, environmental, and maternal risk factors. This case report describes a newborn with an occipital encephalocele associated with severe right ventricular hypoplasia secondary to tricuspid and pulmonary atresia. The patient's maternal risk factors included obesity, type 2 diabetes mellitus, and everyday tobacco use during pregnancy. Education on preconception planning, management, and counseling is essential as a preventative measure in fetal development and is further emphasized in this case.

A rare case of huge frontoethmoidal encephalocele projecting through mouth, with cleft palate.

Frontoethmoidal encephalocele represents protrusion of meninges and brain in a sac through a defect in the anterior skull base, mostly as swelling over the nose. Rarely it is associated with facial dysmorphism and palatal cleft. There are various perioperative concerns like airway difficulties, leaking from the swelling causing fluid and electrolyte disturbances, risk of infection, compression of the swelling causing a rise in intracranial pressure, bleeding, hypothermia, etc., In neonates, these challenges rise exponentially because of the inherent difficulties in dealing with this group of patients. Frontoethmoidal encephaloceles are common in low socioeconomic strata and are often missed in the antenatal period. We are reporting a rare case of frontoethmoidal encephalocele, with a huge swelling protruding through the cleft palate and occupying more than 50% of the face and oral cavity, making mask ventilation impossible.

Letter to the editor: "Management of cerebrospinal­fluid­related intracranial abnormalities in frontoethmoidal encephalocele using "Shunt algorithm for frontoethmoidal encephalocele" (SAFE), a retrospective cohort study of published cases".

This critique evaluates a recent study on the management of cerebrospinal fluid-related intracranial abnormalities in frontoethmoidal encephalocele, as explored in a retrospective cohort study titled "Shunt Algorithm for Frontoethmoidal Encephalocele (SAFE): A Retrospective Cohort Study of Published Cases." focusing on their strengths, weaknesses, and suggestions for future research. This highlights the positive impacts of the SAFE algorithm in standardizing treatment protocols, improving patient outcomes, and enhancing our understanding of the condition through collaborative data analysis. However, it also addresses limitations, such as potential biases in retrospective data analysis and the need for individualized patient care. This abstract emphasizes the significance of continued research and multidisciplinary collaboration in refining the treatment strategies for frontoethmoidal encephaloceles. Prospective, multicenter studies with standardized protocols, collaborative efforts among institutions, and innovative techniques are needed to advance our understanding and management.

Endoscopic Transnasal Management of Meningoceles and Encephaloceles in Children: A Systematic Review.

OBJECTIVE: To review surgical techniques used in the endoscopic transnasal repair of pediatric basal meningoencephaloceles and compare perioperative outcomes in children <2 and ≥2 years old. DATA SOURCES: MEDLINE, EMBASE, and CENTRAL. REVIEW METHODS: Data sources were searched from inception to August 22, 2022, using search terms relevant to endoscopic transnasal meningoencephalocele repair in children. Reviews and Meta-analyses were excluded. Primary outcomes were the incidence of intraoperative and postoperative complications, including cerebrospinal fluid leak, recurrence, and reintervention. Quality assessments were performed using Newcastle-Ottawa Scale, ROBIN-I, and NIH. RESULTS: Overall, 217 patients across 61 studies were identified. The median age at surgery was 4 years (0-18 years). Fifty percent were female; 31% were <2 years. Most defects were meningoencephaloceles (56%), located transethmoidal (80%), and of congenital origin (83%). Seventy-five percent of repairs were multilayered. Children ≥2 years underwent multilayer repairs more frequently than those <2 years (P = 0.004). Children <2 years more frequently experienced postoperative cerebrospinal fluid leaks (P = 0.02), meningoencephalocele recurrence (P < 0.0001), and surgical reintervention (P = 0.005). Following multilayer repair, children <2 years were more likely to experience recurrence (P = 0.0001) and reintervention (P = 0.006). CONCLUSION: Younger children with basal meningoencephaloceles appear to be at greater risk of postoperative complications following endoscopic endonasal repair, although the quality of available evidence is weakened by incomplete reporting. In the absence of preoperative cerebrospinal fluid leak or meningitis, it may be preferable to delay surgery as access is more conducive to successful repair in older children.

Anaesthetic managements of 16 days' neonate with large occipital meningeoencephalocele in a resource-limited setting, Ethiopia: a clinical case report and review of literature.

Introduction: Meningoencephalocele is a rare congenital neural tube defect that results in herniation of brain tissue, necessitating surgical treatment. However, anaesthetic management of meningoencephalocele is challenging because of the giant occipital mass in airway management, particularly for anaesthetists working in resource-limited settings. Therefore, this case report aimed to share the challenges encountered during the perioperative anaesthesia management of a giant occipital meningoencephalocele in Ethiopia. Case presentation: A 16-day-old female neonate was referred from a health centre in Ethiopia for surgical excision and repair of a giant occipital meningoencephalocele (GOM). The main challenges were hemodynamic instability and airway management due to the giant mass on neck movement and inability to achieve the optimal position for intubation. Methods: A single clinical case report discussed challenges encountered during perioperative anaesthesia management of GOM in a resource-limited setting in Ethiopia, and this work has been reported in line with the SCARE 2023 criteria. Conclusion: Anaesthesia management in neonates with GOM is challenging for anaesthetists in resource-limited settings because of the scarcity of different airway equipment and large masses. Another concern was to avoid pressure on the GOM due to rupture, which may result in hemodynamic instability and hypothermia. Therefore, attention should be paid to proper handling of the airway, hypothermia, and fluid loss. Generally, managing an occipital meningoencephalocele poses challenges for anaesthetists, particularly in terms of securing the airway. Despite these challenges, the authors managed with locally available resources.

Surgical Outcomes of Retinal Detachment in Knobloch Syndrome.

PURPOSE: To describe the rate, characteristics, and outcomes of rhegmatogenous retinal detachment (RD) in patients with Knobloch syndrome. DESIGN: A single-center retrospective cohort study. PARTICIPANTS: 50 patients with Knobloch syndrome diagnosed clinically with or without molecular confirmation of recessive pathogenic COL18A1 variants. METHODS: A retrospective chart review of all patients diagnosed with Knobloch syndrome from November 1st, 1983, to March 31st, 2023. Demographic data, ophthalmic evaluation at baseline and follow-up, interventions, and final anatomic and visual outcomes were collected. MAIN OUTCOME MEASURES: Rate, time of onset, characteristics, and treatment outcomes of RD. RESULTS: Fifty patients with Knobloch syndrome were included. Males constituted 56% of cases. The diagnosis was confirmed with molecular genetic testing in 37 (74%) patients. 22 patients (44%) had documented occipital bony defects or scalp lesions. Forty-eight of 100 eyes (48%) developed RD at a mean age of 6.5 (SD = 6.1) years. The mean follow-up was 7.7 (SD = 5.6) years [range 6 months - 24.3 years]. Macular hole-related RD comprised 33% of RD cases. The overall single surgery success rate was 36% and the final anatomical success rate was 70%. Macular hole-related RD carried a slightly worse prognosis with a 58% final anatomical success rate. Vitrectomy with adjunct scleral buckle and silicone oil tamponade provided the highest single surgery success (62.2%). In eyes with measurable best corrected visual acuity (BCVA), the mean preoperative BCVA was 1.2 logMAR (Snellen equivalent 20/320). After successful repair, mean VA was 1.3 logMAR (Snellen equivalent 20/500). CONCLUSIONS: Retinal Detachment in Knobloch syndrome is frequent and occurs in young children. Macular hole retinal detachment comprises one-third of RD cases and requires careful macular evaluation. Vitrectomy, combined with scleral buckling and silicone oil tamponade appear to provide the best anatomical outcomes.

Nasofrontal encephalocele: A case report with literature and management review.

Encephalocele is a rare congenital anomaly characterized by the protrusion of intracranial contents through a defect in the skull base or calvarial. In Southeast Asia, frontoethmoidal encephaloceles are more frequently observed compared to their occurrence in Western countries. Typically, frontoethmoidal encephaloceles present as a visible mass adjacent to the nasal region. In this report, we delineate the case of a 9-year-old boy who presented with a palpable mass on the nasal bridge. Subsequent ultrasound and CT scan evaluations identified a nasofrontal defect with a communicating connection to the intracranial compartment.

Imaging of congenital anomalies and defects of the skull base and calvarium.

Congenital anomalies and defects of the skull base and calvarium encompass a broad and complex spectrum of pathologies. The clinical presentation is highly variable, and these anomalies may be discovered incidentally in asymptomatic individuals. Radiological assessment plays a pivotal role in precisely characterizing these abnormalities, facilitating the diagnostic process, and assisting in any preoperative preparation.

Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.

BACKGROUND: Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion. OBSERVATIONS: This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism. LESSONS: Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.

Management of cerebrospinal-fluid-related intracranial abnormalities in frontoethmoidal encephalocele using "Shunt algorithm for frontoethmoidal encephalocele" (SAFE).

A cerebrospinal-fluid-related (CSF-related) problem occurred in 25-30% of frontoethmoidal encephalocele (FEE) cases. Since there was no algorithm or guideline, the judgment to treat the CSF-related problem often relies upon the surgeon's experience. In our institution, the early shunt was preferable to treat the problem, but it added risks to the children. We developed an algorithm, "Shunt Algorithm for Frontoethmoidal Encephalocele" (SAFE), to guide the surgeon in making the most reasonable decision. To evaluate the SAFE's efficacy in reducing unnecessary early shunting for FEE with CSF-related intracranial abnormality. Medical records of FEE patients with CSF-related abnormalities treated from January 2007 to December 2019 were reviewed. The patients were divided into two groups: before the SAFE group as group 1 (2007 - 2011) and after the SAFE group as group 2 (2012 - 2019). We excluded FEE patients without CSF-related abnormalities. We compared the number of shunts and the complications between the two groups. One hundred and twenty-nine patient's medical records were reviewed. The males were predominating (79 versus 50 patients) with an average age of 58.2±7.1 months old (6 to 276 months old). Ventriculomegaly was found in 18 cases, arachnoid cysts in 46 cases, porencephalic cysts in 19 cases, and ventricular malformation in 46 cases. Group 1, with a score of 4 to 7 (19 cases), received an early shunt along with the FEE repair. Complications occurred in 7 patients of this group. Group 2, with a score of 4-7, received shunts only after the complication occurred in 3 cases (pseudomeningocele unresponsive with conservative treatment and re-operation in 2 cases; a sign of intracranial hypertension in 1 case). No complication occurred in this group. Groups 1 and 2, with scores of 8 or higher (6 and 8 cases, respectively), underwent direct shunt, with one complication (exposed shunt) in each group. The SAFE decision algorithm for FEE with CSF-related intracranial abnormalities has proven effective in reducing unnecessary shunting and the rate of shunt complications.

[Surgical treatment of focal drug-resistant epilepsy associated with temporal lobe encephalocele]. / Khirurgicheskoe lechenie patsientov so strukturnoi fokal'noi farmakorezistentnoi epilepsiei, assotsiirovannoi s visochnymi entsefalotsele.

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 cm3. 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.

Evaluating the potential role of determinants of health on encephalocele patient outcomes - a combined retrospective study and systematic review.

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.

Congenital trans-sellar trans-sphenoidal encephalocele: a systematic review of diagnosis, treatment, and prognosis.

PURPOSE: Clinical presentations encompass respiratory, feeding issues, nasopharyngeal mass, meningitis, CSF leakage, craniofacial anomalies, and endocrine problems. Surgery is the primary treatment, transitioning from frontal craniotomy to endoscopic methods, offering improved outcomes. Yet, more studies are needed. A comprehensive review on trans-sellar trans-sphenoidal encephalocele (TSTSE) is missing. Our study aims to fill this gap, offering a comprehensive perspective for physicians. METHODS: This review adhered to the PRISMA guideline. Eligible studies focused on human subjects, specifically trans-sellar encephaloceles, and provided comprehensive treatment details. English language articles published up to April 11th, 2023, were considered. Two trained researchers conducted article screening using consistent criteria. Data extraction covered various aspects, including clinical presentation, surgical methods, and outcomes, with results presented descriptively in two tables. Due to the rarity of this congenital anomaly, meta-analysis and publication bias assessment were not feasible. Data extraction was independently conducted by two reviewers, with subsequent cross-verification. RESULTS: A total of 36 patients were identified from 14 studies, the most frequently observed clinical presentation was dyspnea (41.67%) and the most frequently observed accompanying anomaly was cleft lip/palate (55.56%). CT and MRI were adopted in nearly all the cases, and trans-nasal approach was the most often used surgical approach (57.14%) with the 'soft material combination' the most commonly used method for cranial base repairment (35.71%). A total of two deaths occurred and diabetes insipidus was the most common perioperative complication which occurred in six surgery patients (21.43%). CONCLUSION: TSTSE predominantly affects males and presents with dyspnea, visual deficits, pituitary insufficiency, and cranial base-related symptoms. Early diagnosis is critical, with advanced imaging playing a key role. Endocrine assessment is vital for hormone management. Surgery offers symptom relief but entails risks, including reported fatalities and complications. The choice between surgery and conservative management requires careful deliberation. The trans-nasal approach is favored for its reduced trauma, yet further research is necessary to validate this preference.

Semiautomated electric source imaging determines epileptogenicity of encephaloceles in temporal lobe epilepsy.

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.

Successful repair of an encephalocele wound in a child following a car accident: A case report.

Repair of large cranial complex traumas in children is difficult. Notably, children have poorer underlying conditions than adults and are frailer under trauma. In addition, children have more limited treatment options, leading to the need to consider long-term functional and aesthetic outcomes. The present report describes the case of a 2-year-old child weighing 9 kg who experienced a skull fracture with encephalocele after a car accident and had a poor underlying condition. An artificial dura mater combined with bone cement was used to repair the skull, and then a free latissimus dorsi muscle flap (LDMF) combined with a split-thickness skin graft (STSG) was used to cover the wound, allowing the child to overcome the life-threatening situation as soon as possible with a satisfactory outcome. LDMF combined with STSG is an ideal option in repairing head wounds in children. Preoperative imaging and postoperative care also serve an important role in the success of the operation. When the situation is critical, multidisciplinary team treatment can guarantee the safety of the child.

Repair of lateral temporo-sphenoidal encephalocoele via an endoscopic transorbital approach: ex vivo 3D printed simulation followed by in vivo deployment.

BACKGROUND: A temporo-sphenoidal encephalocoele occurs when temporal lobe herniates through a defect in the greater wing of the sphenoid bone into the sphenoid air sinus. The natural history is not well-understood, though presentation in adulthood with CSF rhinorrhoea and/or meningitis is typical. Lateral pneumatisation of the sphenoid sinus and elevated BMI may be contributory. AIMS: We explored the feasibility of a transorbital approach (TOA) for repair, using a combination of 3D modelling and simulation. We then successfully deployed this technique in vivo. METHODS: CT imaging for three patients who had previously undergone transcranial repair of lateral temporo-sphenoidal encephalocoele was used to generate data allowing 3D printed models of the skull base to be produced. The transorbital approach was simulated by performing a lateral orbitotomy followed by drilling of the sphenoid wing to expose the antero-basal middle fossa. 3D object scanning was used to create virtual models of the skull base post-surgery, from which surgical access was quantified in two ways: the area (mm2) of the middle fossa exposed by the TOA and the vertical attack angle. RESULTS: The mean surface area of the cranial access window achieved by simulated TOA was 325mm2. The mean vertical attack angle was 25°. One patient was subsequently treated successfully via TOA with no recurrence of their CSF leak, no orbital morbidity, excellent cosmesis, but resolving V2 numbness (follow-up 7 months). CONCLUSIONS: We have shown that the transorbital approach provides adequate surgical access. In our single case, surgical repair of a lateral temporo-sphenoidal encephalocoele via TOA was feasible, safe, and effective. This approach may offer some advantages compared with transcranial or endonasal approaches.

Encephalocele presenting with bacteremia and meningitis.

An encephalocele is a cranial defect that allows brain matter to present in other portions of the skull. We present a case of a 57-year-old female who presented to the ICU with fever and unresponsiveness and was diagnosed with meningitis, bacteremia, and pneumonia. After diagnostic imaging was performed, a nasofrontal encephalocele was found and corrected via surgical intervention. The patient's nasofrontal encephalocele caused a predisposition for opportunistic infections due to the exposed and unprotected brain matter, which caused a simple case of sinusitis to turn into a life-threatening case of meningitis and bacteremia.

Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction. METHODOLOGY: The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient's condition. Surgical interventions, including decompression and encephalocele repair, were performed. RESULTS: Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient's ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome. CONCLUSION: This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations.

Endoscopic endonasal repair of encephaloceles of the lateral sphenoid sinus: multiinstitution confirmation of a new classification.

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.