Basal Encephalocele Research Articles

Single-Stage Endoscopic Repair of Pediatric Basal Encephalocele: A Comprehensive Multimedia Case Report.

Basal encephaloceles are the result of a concomitant cranial and dural defect that allows for inferior displacement of cerebral tissue, meninges, and cerebrospinal fluid into the paranasal sinuses and outside the cranial vault. This work illustrates a step-by-step surgical approach of a successful single-stage, endoscopic repair of a congenital basal encephalocele in a 10-year-old child, using a free mucosal middle turbinate graft that provided effective results without utilization of traditional open reconstructive techniques or vascularized flaps. A previously healthy 10-year-old male with a history of unilateral clear rhinorrhea was admitted as an inpatient because of an acute episode of nausea, vomiting, and confusion, accompanied by fever, diplopia, and bilateral abducens nerve palsies. Preoperative imaging revealed a 2-cm right-sided intranasal mass accompanied by a subcentimeter skull base defect spanning the lateral lamella. After completing a course of intravenous antibiotic therapy for 1 week after a negative lumbar puncture to ensure clearance of intracranial infection, the decision was made to proceed with definitive endoscopic skull base repair to obviate recurrent bacterial meningitis episodes and potential neurological complications. This study demonstrates technical feasibility of a single-stage endoscopic endonasal approach for pediatric basal encephalocele resection and repair which minimizes craniofacial morbidity associated with traditional open approaches and sinonasal morbidity associated with local pedicle-based flaps for small cranial base defects in this unique patient population.

Pediatric Congenital Anterior Skull Base Encephaloceles and Surgical Management: A Comparative Review of 22 Patients Treated Transnasally, Transcranially, or Combined Approach With a Review of the Literature.

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. We analyzed the neurosurgical administrative and operative databases between 1986 and 2022 to determine clinical presentation, operative approach, and outcome of basal encephaloceles. 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. 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.

Reasons for failure of surgical treatment of patients with congenital basal encephaloceles

Encephalocele or craniocerebral hernia is a disease in which there is a prolapse of the meninges and structures of the brain through a skull defect. Clinically, they are manifested by a violation of nasal breathing, deformation of the naso‑ethmoid region, and nasal liquorrhea. Various inflammatory complications (meningitis, meningoencephalitis, ventriculitis, brain abscess) can occur against the background of persistent hernia, while mortality is 8–10 %.Basal encephalocele is a rare pathology that requires an integrated approach in a specialized hospital using high‑tech equipment. Therapeutic tactics and risks are determined individually based on the patient’s age, current symptoms, size of the nasal cavity, location and size of the skull base defect. In the absence of nasal liquorrhea, it is possible to delay surgical treatment in order to be able to use an autologous bone of the calvarium, to collect a larger periosteal flap, to perform the operation using a combined approach and to minimize surgical complications. With endonasal endoscopic access, it is necessary to separate the encephalocele from the surrounding tissues, completely remove the hernial sac and visualize the bone edges of the defect, and then perform its plastic closure.Despite the fact that in most cases the existing methods of treatment are very effective, in a number of cases it is not possible to achieve the desired result. This article presents two rare clinical cases in which patients with basal encephalocele required reoperation for herniation and skull base defect repair.

Comparative analysis of long-term results of surgical treatment of children with basal encephaloceles

Basal encephaloceles (skull base hernias) are a rare pathology manifested by prolapse of altered membranes and brain tissue through a bone defect of the skull base. Endoscopic access is safer and is currently used as the method of choice in the treatment of this pathology. Available literature studies do not cover the quality of life of these patients at follow-up. There is a controversy regarding the impact of endoscopic access on the growth centers of the facial skeleton. Material and methods. A retrospective analysis of a series of 100 patients aged 0 to 18 years with basal encephaloceles who underwent surgical treatment at the N. N. Burdenko National Medical Research Center of Neurosurgery from 2005 to 2022 was carried out to determine the effectiveness and safety of the endoscopic method in the treatment of patients with basal encephaloceles and identify factors affecting the quality of life of these patients. Results and conclusions. Endoscopic endonasal access in the treatment of children with basal encephaloceles is effective and safe. Patients have a high quality of life (>85 points) at follow-up. After the operation, there is an improvement in nasal breathing and an increase in the degree of psychomotor development. Patients have a high quality of life (>85 points) at follow-up. A lower quality of life at follow-up was observed in children with delayed psychomotor development before surgery (OR=0.6; p=0.003). The follow-up study of the dynamics of craniometric parameters did not reliably show any disturbances in the growth of the bones of the facial skeleton in patients after endoscopic surgery.

Congenital basal encephaloceles involving functionally important structures

We reviewed 43 articles (78 cases) devoted to basal encephaloceles involving functionally important structures. Analysis included transsphenoidal and sphenoethmoidal hernias. Nasal breathing disorders were found in 76.9% of cases, decreased visual acuity - 53.8%, endocrine disorders - 44.9%, nasal CSF leakage - 14.1%, meningitis - 10.3%. Concomitant malformations occurred in 85.9%. Severe respiratory disorders (52.6%, p<0.05) and multiple concomitant malformations (71.7%, p<0.05) were more common among patients with sphenoethmoidal encephalocele. Among 78 patients, 73.1% underwent surgery while follow-up was preferable in 26.9% of cases. There was progression of endocrine disorders (9.5%), visual impairment (4.8%) and nasal breathing disorders (4.8%) in follow-up period. Surgical treatment also has many risks. Transcranial, transnasal, transoral and combined approaches are currently used. It was not possible to establish the most effective surgical approach due to heterogeneous clinical data. Postoperative complications occurred in 47.4% of cases (endocrine disorders - 33.3%, CSF leakage - 8.8%, visual impairment - 1.8%, infectious complications - 14%). Mortality rate was 3.5%. Congenital basal encephalocele involving functionally important structures is an extremely rare developmental defect. Such patients often have concomitant anomalies. Comprehensive examination is necessary to estimate the structures included in hernial sac and concomitant diseases. Treatment strategy should be determined individually after thorough examination and comparison of all risks. Surgical treatment is associated with high risk of complications due to damage to the structures comprising encephalocele.

A rare case surgery repair for pediatric sphenoethmoidal encephalocele with single-step transfrontobasal approach

Link of Vidio Abstract: https://youtu.be/nsnfWQ81oRU Background: Basal encephalocele (BEC) is the rarest type of all encephaloceles. Several methods were used to close and repair the bony defect and prevent CSF leakage. Here we present a case of a 1-month-old pediatric patient who presented with a sphenoethmoidal basal encephalocele with a single transfrontobasal approach. Case Presentation: A female infant one-month-old with diagnosed large sphenoethmoid encephalocele (basal encephalocele). From the 3D CT scan reconstruction, we found a defect in the planum sellae and ethmoid region with a maximum line of 2.84 cm x 2.89 cm. We performed a transfrontobasal approach by using titanium mesh/plate. After follow-up, we did not find CSF leakage. Conclusion: Uncertainty persists on the best way to restore BEC. In this instance, we used single TBF approaches to seal and repair the basal encephalocele. There are no signs of infection or CSF leakage throughout the follow-up.

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are among the most common congenital anomalies, but knowledge of the genetic basis of these conditions remains incomplete. The extent to which genetic risk factors are shared between CL/P, NTDs and related anomalies is also unclear. While identification of causative genes has largely focused on coding and loss of function mutations, it is hypothesized that regulatory mutations account for a portion of the unidentified heritability. We found that excess expression of Grainyhead-like 2 (Grhl2) causes not only spinal NTDs in Axial defects (Axd) mice but also multiple additional defects affecting the cranial region. These include orofacial clefts comprising midline cleft lip and palate and abnormalities of the craniofacial bones and frontal and/or basal encephalocele, in which brain tissue herniates through the cranium or into the nasal cavity. To investigate the causative mutation in the Grhl2Axd strain, whole genome sequencing identified an approximately 4kb LTR retrotransposon insertion that disrupts the non-coding regulatory region, lying approximately 300 base pairs upstream of the 5' UTR. This insertion also lies within a predicted long non-coding RNA, oriented on the reverse strand, which like Grhl2 is over-expressed in Axd (Grhl2Axd) homozygous mutant embryos. Initial analysis of the GRHL2 upstream region in individuals with NTDs or cleft palate revealed rare or novel variants in a small number of cases. We hypothesize that mutations affecting the regulation of GRHL2 may contribute to craniofacial anomalies and NTDs in humans.

Combined surgical repair and venous sinus stenting for patients with skull base encephaloceles secondary to dural venous sinus stenosis.

Chronically elevated intracranial pressure (ICP) seen in idiopathic intracranial hypertension (IIH) can cause the development of skull base encephaloceles and cerebrospinal fluid (CSF) leaks. Surgical repair and ventriculoperitoneal shunt (VPS) placement are mainstays of treatment. Venous sinus stenting (VSS) is a newly accepted treatment modality. The goal of this study was thus to determine if VSS can be used to treat symptoms and prevent recurrence after surgical encephalocele repair. Retrospective chart review of patients that had surgical repair of encephaloceles followed by VSS for symptomatic stenosis with elevated pressure gradient. A total of 13 patients underwent a combined encephalocele repair and VSS. Seventy-two percent were female; 46% had headaches, 69% pulsatile tinnitus, and 92% CSF rhinorrhea or otorrhea. One had seizures. Mean lumbar opening pressure was 23.3 ± 2.6cm H2O; the average sagittal-to-jugular pressure gradient was 12.7 ± 1.8 cmH2O and was elevated in all patients. Four patients had middle fossa craniotomy for repair of tegmen defect (one bilateral); one had a retrosigmoid craniotomy for repair of a sigmoid plate defect. Eight had an endoscopic endonasal repair for sphenoid or cribriform plate encephalocele. There were no VSS procedural complications or complications associated with dual antiplatelet therapy. One patient had meningitis after endoscopic repair that was treated with antibiotics. One patient had recurrence of both CSF leak and venous stenosis adjacent to the stent requiring repeat repair and VSS. There was no further recurrence. In patients with dural sinus stenosis and encephaloceles requiring repair, VSS can be performed safely within weeks of surgery for relief of symptoms, resolution of underlying pathology, and prevention of CSF leak recurrence.

Seizures as the initial manifestation of Idiopathic Intracranial Hypertension (P2-9.001)

<h3>Objective:</h3> To describe the clinical and radiologic characteristics of 5 patients with seizure as a symptom of idiopathic intracranial hypertension (IIH). <h3>Background:</h3> Patients with IIH may have atypical presentations and may not meet the classic IIH diagnostic criteria. Recent reports suggest an association between IIH and seizures in patients with temporal encephaloceles, which are frequently observed in temporal lobe epilepsy and might be an epileptogenic focus. The aim of this study is to report patients with presumed IIH and seizures associated with encephaloceles. <h3>Design/Methods:</h3> NA <h3>Results:</h3> We report 5 patients (34–79 years old; 4 women, 1 man; body mass index mean 44.6 (25.6–60.6)) with generalized or focal epilepsy associated with encephaloceles in the basal frontal lobe or inferomedial temporal lobe. Three patients with temporal lobe encephaloceles had interictal epileptiform activity or focal temporal slowing in one or both temporal lobes. Other radiological findings included signs of chronic intracranial hypertension. Three patients had rhinorrhea from spontaneous cerebrospinal fluid (CSF) leak; all denied visual symptoms. One patient had mild papilledema, and 4 patients had chronic peripapillary changes suggesting previous papilledema. Three patients had a lumbar puncture opening pressure between 26 and 28 cm H₂O. <h3>Conclusions:</h3> These cases suggest that seizures related to basal encephaloceles likely result from untreated chronic intracranial hypertension, as can be seen in untreated or chronic IIH. Skull base meningoencephaloceles and spontaneous CSF leak are two manifestations of the same bony defects that are likely part of the expanding IIH spectrum. The diagnosis of IIH remains presumptive, especially without papilledema. Radiological findings of chronic intracranial hypertension in patients with isolated seizures should prompt funduscopic examination looking for papilledema and skull base imaging screening for basal encephaloceles that may help guide epilepsy treatment. <b>Disclosure:</b> Dr. Bouthour has nothing to disclose. Dr. Al-Balushi has nothing to disclose. Dr. Dattilo has nothing to disclose. Dr. Newman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for GenSight. Dr. Newman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Chiesi. Dr. Newman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurophoenix. Dr. Newman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Stoke. Dr. Newman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Newman has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurodiem. The institution of Dr. Newman has received research support from GenSight. The institution of Dr. Newman has received research support from Chiesi/Santhera. The institution of Dr. Newman has received research support from NINDS/NIH. Dr. Newman has received publishing royalties from a publication relating to health care. Dr. Newman has received publishing royalties from a publication relating to health care. Dr. Newman has received publishing royalties from a publication relating to health care. Dr. Biousse has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Gensights Biologic. Dr. Biousse has received personal compensation in the range of $0-$499 for serving as a Consultant for Neurophoenix. The institution of Dr. Biousse has received research support from NIH. Dr. Biousse has received publishing royalties from a publication relating to health care. Dr. Biousse has received publishing royalties from a publication relating to health care.

Combined Endoscopic Endonasal and Transpalatal Repair of Congenital Anterior Cranial Fossa Agenesis.

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. To present a novel technique for combined endoscopic endonasal and transpalatal repair of a giant basal meningocele through an extensive sphenoethmoidal skull base defect. 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. 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. 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.

Persisting embryonal infundibular recess (PEIR) and transsphenoidal-transsellar encephaloceles: distinct entities or constituents of one continuum?

Persisting embryonal infundibular recess (PEIR) is a very rare anomaly of the floor of the third ventricle in which the embryonic morphology of the infundibular recess (IR) persists. The exact underlying mechanism of development of PEIR is unknown, and the anomaly has been reported as an isolated finding or in association with other conditions. On the other hand, trans-sphenoidal encephaloceles are the rarest form of basal encephaloceles. The trans-sphenoidal trans-sellar encephalocele (TSE) is the least common variant in which the pituitary gland, pituitary stalk, optic pathways, parts of the third ventricle and IR may be present within the encephalocele. We recently treated one patient with TSE. Based on the observed morphological similarity of the IR in our patient and in the published cases of PEIR, we reviewed the literature in order to validate the hypothesis that PEIR and TSE may possibly belong to one spectrum of malformations. Across the published reports, the morphology of the IR in TSE is very closely similar to PEIR. Moreover, radiological, patho-anatomical, and embryological evidence is in support to our hypothesis that PEIR and TSE are most likely the two extremes of the same continuum of malformations.

Sealing the Box: Microsurgical Repair of Skull Base Encephaloceles: 2-Dimensional Operative Video.

Encephaloceles are pathologic herniations of brain parenchyma through a bone defect.1 Spontaneous encephaloceles occur most commonly in the lateral recess of the sphenoid and the ethmoid roof.2-4 Surgical repair is necessary to eliminate the risk of recurrent or fatal meningitis.5 Standard transsphenoidal approaches provide limited visualization of certain areas,6 and failure to obtain a durable repair is not uncommon.2,7-9 Notwithstanding the good results reported with endoscopic repairs and the increased popularity of this approach,10-14 additional pterygoid and pterygopalatine fossa dissection may be required, with concomitant risk of vidian or maxillary nerve dysfunction and postoperative dry eye.10,15 This is particularly relevant with laterally located encephaloceles. The ideal operative approach requires complete exposure of the encephalocele, permits surgical amputation, and allows definitive repair by inlay grafting supported by a vascularized epidural flap. The exact site of the defect must be precisely determined by detailed imaging studies, frequently requiring cisternography in cases of small defects.16 Coincident empty sella syndrome is common in spontaneous cerebrospinal fluid leaks but does not necessarily indicate the site of origin.3,17,18 When the defect is located laterally (eg, medial middle fossa, temporal bone, and middle ear) or anteriorly (frontal or ethmoidal regions), we favor a microsurgical approach for its limited dissection through a smaller craniotomy, low complication risk because of largely extradural dissection, and ready availability of an anodyne-vascularized temporal or pericranial flap.19 We describe 2 cases of microsurgical repair of spontaneous encephaloceles, one in the frontoethmoidal region and the other in the anteromedial middle fossa. The patients consented to surgical repair. Images at 2:14 and 2:29 © Ossama Al-Mefty, 1997. Used with permission. {"href":"Single Video Player","role":"media-player-id","content-type":"play-in-place","position":"float","orientation":"portrait","label":"","caption":"","object-id":[{"pub-id-type":"doi","id":""},{"pub-id-type":"other","content-type":"media-stream-id","id":"1_ofvgxssh"},{"pub-id-type":"other","content-type":"media-source","id":"Kaltura"}]}

English

Encephalocele is a form of neural tube defect affecting many children, more common in the occipital regions. The frontoethmoidal encephaloceles (FEE) are rare and the aetiology is unclear since it varies genetically and is linked to multiple reasons. The child with FEE mainly presents with swelling over the bridge of the nose or inner canthus of an eye since birth, with varying degrees of hypertelorism. Here we report a child who has facial asymmetry with FEE. Encephalocele is a defect in the calvarium that causes the cranial contents to protrude outside the natural limits of the skull. It can have meninges (meningocele), brain matter and meninges (meningoencephalocele), or communication with the ventricles. Suwanwela and Suwanwela defined encephaloceles based on the location and form of skull defect as occipital encephaloceles, cranial vault encephaloceles, frontoethmoidal encephaloceles, and basal encephaloceles. The internal skull defect in frontoethmoidal encephalocele (FEE) is in the midline, but the external skull defect may vary in the facial bony structure. 1–3 It is also classified into three subtypes: nasofrontal (NF), naso-ethmoidal (NE), and naso-orbital (NO). These swellings are classified as sessile or pedunculated, and their palpability ranges from robust and rigid to soft and cystic. We present a case of an infant with frontoethmoidal encephaloceles as well as a facial deformity.

Repair of Giant Anterior Skull Base Encephalocele Containing Intralesional Eloquent Brain: Technical Note.

Encephaloceles are herniations of intracranial neural tissue and meninges through defects in the skull. Basal encephaloceles are rare anterior skull base defects incident in 1 in 35,000 live births. Sphenoethmoidal encephaloceles are even more uncommon, with an incidence of 1 in 700,000 live births. Anterior skull base encephaloceles may be life-threatening in infants, presenting as airway obstruction and respiratory compromise. They can also present with cerebrospinal fluid (CSF) rhinorrhea, purulent nasal drainage, or meningitis. To report a novel technique for repairing a giant sphenoethmoidal encephalocele containing eloquent neural tissue. A 16-mo-old girl presented with progressive airway obstruction from a giant sphenoethmoidal encephalocele that filled her oral cavity. She had multiple congenital anomalies including agenesis of the corpus callosum and cleft lip and palate. Computed tomography showed complete absence of the bony anterior cranial base, and magnetic resonance imaging demonstrated the presence of the pituitary gland and hypothalamus in the hernia sac. We repaired the encephalocele using a combined microsurgical and endoscopic multidisciplinary approach working through transcranial, transnasal, and transpalatal corridors. The procedure was completed in a single stage, during which the midline cleft lip was also repaired. The child made an excellent neurological and aesthetic recovery with preservation of pituitary and hypothalamic function, without evidence of CSF fistula. The authors describe a novel multidisciplinary technique for treating a giant sphenoethmoidal encephalocele containing eloquent brain. The cleft lip was also repaired at the same time. The ability to work through multiple corridors can enhance the safety and efficacy of an often-treacherous operative endeavor.

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

Morning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

Unveiling a rare aetiology of secondary acquired nasolacrimal duct obstruction

Morning Glory Syndrome (MGS) is a well-established association of basal encephalocele and usually presents with midline cranio-facial anomalies. 45-year-old female presented with Secondary Acquired Nasolacrimal Duct Obstruction (SANDO) in left eye. She had a broad nasal bridge, hypertelorism and a swelling inferomedial to medial canthus. Fundus examination in right eye showed Morning Glory disc anomaly. CT of the orbit and brain disclosed left naso-ethmoidal encephalocele. CT Dacryocystography showed partial dehiscence of nasolacrimal duct bilaterally. The patient underwent surgical repair of encephalocele followed by resolution of epiphora. The association of MGS with contralateral naso-ethmoidal encephalocele and SANDO is presented for its rarity.

The Transsphenoidal Encephalocele: Associations and Elusive Origins

Transsphenoidal encephaloceles comprise a rare subset of congenital basal encephaloceles in which brain tissue and overlying meninges herniate through an embryologic defect in the body of the sphenoid bone. The pathogenesis is thought to be multifactorial, possibly beginning with neural crestopathic arrest or insult, which results in subsequent mechanical and in utero events. Importantly, associated anomalies, such as optic, vascular, and endocrine abnormalities, can occur in association with transsphenoidal encephaloceles. As such, a cross-sectional multimodality approach is required to fully elucidate the extent of abnormalities, including CT, CTA, MR imaging, and/or MRA for complete characterization.

Autologous Partial Thickness Calvarial Graft Sphenocranioplasty for Congenital Transsphenoidal Encephalocele

Abstract INTRODUCTION Transsphenoidal encephalocele (TSE) is a rare type of basal encephalocele (BE) with a reported incidence of 1 in 700 000 live births. Clinical presentation is often insidious with a large herniation protrudes through the nasopharynx containing neural elements. Due to the rare occurrence of these lesions, management options can be quite challenging. METHODS Authors present a case report of a 16-yr-old male who has followed for a large transsphenoidal encephalocele. The patient had obstructive sleep apnea with a recent progression of his vision and endocrinopathy symptoms. Unique is the preoperative planning and the surgical details to treat this complex developmental pathology of skull base. RESULTS The timing of mangement of the transsphenoidal encephalocele depends on the progression. Endoscopic endonasal transsphenoidal approach was utilized to address this skull base defect. A large herniation containing neural elements was encountered and was sequentially reduced. Authors discuss their novel method of closing the bone defect with an autologous calvarial partial thickness parietal bone graft. Postoperative course was uneventful. Postoperative MR brain revealed significant reduction of TSE with closure of the bony defect. CONCLUSION TSE can be closely monitored; however, surgery is recommended in lieu of progression of symptoms. Sphenocranioplasty with a partial thickness calvarial bone graft through endoscopic endonasal transsphoidal approach is a viable option to treat this rare developmental pathology of skull base.

Teaching NeuroImages: Morning glory disc anomaly

A 7-month-old girl presented with strabismus. Funduscopy (figure, A) revealed a typical morning glory disc anomaly (MGDA) of the right eye, including an enlarged funnel-shaped excavation of the optic disc, a peripapillary pigmented ring, and a radial aspect of the retinal vessels. Brain MRI (figure, B) showed excavation and abnormal tissue at the optic nerve insertion consistent with glial tuft. The symptoms caused by a MGDA are various and not always present: variable visual acuity (often poor) for the affected eye, visual field defects, and enlarged blind spot are the most common symptoms. Serous retinal detachments can occur. The pathology is usually unilateral. MRI helps in making the diagnosis and detecting associated intracranial abnormalities,1 especially midline anomalies like transphenoidal basal encephalocele and moyamoya syndrome. There is no treatment for MGDA; however, optimizing visual acuity is important to prevent amblyopia.2

Morning Glory Syndrome

Morning Glory Syndrome is a very rare condition. It is characterized by an enlarged and funnel-shaped optic disc excavated and is associated with other craniofacial anomalies such as hypertelorism, cleft lip, cleft palate, and basal encephalocele. CaseReport. A case of a 30 year-old man who came for neurosurgical evaluation after a magnetic resonance imaging (MRI) scan that showed spheno-ethmoidal encephalocele is reported. Conclusions. There is a high association between basal encephalocele,midface abnormalities and Morning Glory Syndrome. A neurosurgical, ophtalmological and endocrinological evaluation must always be done. The patients present with ophtalmic signs and/or strabismus or poor vision. An image study should always be performed to delineate the extent of the lesion and a complete hormone screening should be carried out to exclude pituitary deficiency.