Basal Encephalocele Research Articles

Encefalocele Basal Transesfenoidal: Relato De Caso Diagnosticado Em Exame Ecográfico De Rotina

The neural tube closure defects are the most common malformations of the Central Nervous Sistem. The basal encephaloceles are extra cranial herniations with cerebral content. The authors describe a case of Transsphenoidal Encephalocele and did a literature review of this rare malformation. Female patient, 28 years old, with gestational age of 21 weeks, comes to the school to perform routine fetal ultrasound control. During the examination, it was observed an opening at the base of the skull in the topography of the sphenoid bone, where noted herniation of brain parenchyma, reaching across the palate and oral cavity. The encephaloceles has a prevalence of 1:35.000 live births. The basal type is even more rare, accounting for only 2-10% of encephalocele cases. The transsphenoidal encephalocele can commonly be associated with facial developmental anomalies, as well as malformations of the the optical system and the brain. The most found facial malformations are: hypotelorism, median cleft nose, nasal base enlarged, cleft lip or palate, cleft facial syndrome or medial frontal skull bifid. The treatment basically consists of prophylaxis with folic acid, which not only prevents defects of neural tube closure as well as facial malformations.

Nasal encephaloceles: a review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and complications

Encephaloceles are considered by most to be a type of neural tube defect characterized by a herniation of the brain and meninges through structural weaknesses in the bony structures of the skull. Many different types of encephaloceles have been classified according to the location of the bony defect. Basal and frontoethmoidal encephaloceles constitute a nasal subclass of encephaloceles, which are herniations from the skull base and ethmoid bone, respectively. Basal encephaloceles are usually occult and can herniate into nasal structures causing obstruction. Frontoethmoidal encephaloceles usually present as a protrusion that is visible at birth and enlarges during crying. Both of these entities are rare with an incidence ranging from 1 in 5,000 to 1 in 40,000 live births around the world with the majority of cases localized in Southeast Asia. Although cases have been recorded since the sixteenth century, there is still a scarcity of knowledge on the exact causes and factors associated with the development of the disease. Many studies have determined these to be caused by a combination of genetic and environmental factors. Most cases are non-life-threatening and the preferred method of treatment is surgical removal after diagnosis is confirmed with computerized tomography or magnetic resonance imaging. Prognosis is generally positive, especially in the subset of patients with frontoethmoidal encephaloceles.

Predictors of surgical approaches for the repair of anterior cranial base encephaloceles

Surgical approaches to the anterior cranial base have changed considerably with the introduction of endonasal endoscopic surgery. This study aims to define the factors which help in selecting the optimal surgical approach for the treatment of anterior cranial base encephaloceles. Patients who received treatment for anterior cranial base encephaloceles at our department between 1996 and 2011 were included in the study. Patients' charts were reviewed retrospectively to collect the necessary data. Treatment periods were classified as before 2000, between 2000 and 2005, and after 2005. The relationship between the treatment period, localization of encephalocele, symptoms related with the lesion, size of skull base defect, and selected treatment modality were investigated. Twenty-five patients, aged between 1 and 61 years with anterior encephaloceles were included in the study. Patients with small asymptomatic frontonasal and trans-ethmoidal encephaloceles (n = 5) were followed without surgery. An external approach with or without subfrontal craniotomy was mainly preferred for resection of sincipital encephaloceles (n = 10), especially with facial deformity. A subfrontal craniotomy approach was used for resection of basal encephaloceles in two cases before 2000. Two cases with sincipital encephaloceles and six cases with basal encephaloceles underwent pure endonasal endoscopic surgery after 2000. Cranial base defects of every size could be repaired using the endoscopic approach. Hydrocephalus and meningitis were the two complications seen after craniotomy in a follow-up period of 13-26 (mean 14.5) months. An external approach with or without craniotomy is needed for encephaloceles with external mass and facial deformity. Otherwise, sincipital and basal encephaloceles can be repaired successfully using the endonasal endoscopic approach.

Congenital Orbital Encephalocele, Orbital Dystopia, and Exophthalmos

We present here an exceedingly rare variant of a nonmidline basal encephalocele of the spheno-orbital type, and this was accompanied with orbital dystopia in a 56-year-old man. On examination, his left eye was located more inferolaterally than his right eye, and the patient said this had been this way since his birth. The protrusion of his left eye was aggravated when he is tired. His naked visual acuity was 0.7/0.3, and the ocular pressure was 14/12 mm Hg. The exophthalmometry was 10/14 to 16 mm. His eyeball motion was not restricted, yet diplopia was present in all directions. The distance from the midline to the medial canthus was 20/15 mm. The distance from the midline to the midpupillary line was 35/22 mm. The vertical dimension of the palpebral fissure was 12/9 mm. The height difference of the upper eyelid margin was 11 mm, and the height difference of the lower eyelid margin was 8 mm. Facial computed tomography and magnetic resonance imaging showed left sphenoid wing hypoplasia and herniation of the left anterior temporal pole and dura mater into the orbit, and this resulted into left exophthalmos and encephalomalacia in the left anterior temporal pole. To the best of our knowledge, our case is the second case of basal encephalocele and orbital dystopia.

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the Afflymetrix 100K DNA oligoarray set showed an interstitial deletion 21q22.3 of approximately 219 kb. Conventional karyotype of both parents was normal, and it was not possible to perform the molecular studies. In this report we raise the hypothesis that the deleted genes located at 21q22.3 could account to the phenotype.

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

Exclusion of mutations in <i>TGIF</i>, <i>ALX3</i>, and <i>ALX4</i> genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

Surgical Management of Skull Base Encephaloceles

Surgical Management of Skull Base Encephaloceles

Anesthetic challenges during perioperative management of patient undergoing repair of basal encephalocele with cleft palate

Anesthetic challenges during perioperative management of patient undergoing repair of basal encephalocele with cleft palate

Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis

Acquired non-traumatic transethmoidal encephaloceles are very infrequent lesions that are generally caused by a tumor or hydrocephalus. As far as we know, there is no reported case of encephalocele after CSF diversion in the literature. We present a 25-year-old woman with hydrocephalus due to aquiductal stenosis who was treated with endoscopic third ventriculostomy. Nine months later, she had developed rhinorrhea and on imaging she had a transethmoidal encephalocele. She underwent endonasal endoscopic repair of the defect and removal of herniated parenchyma. CSF diversion to parasellar cisterns is not a known iatrogenic cause of basal encephalocele and is not noted elsewhere as a complication of third ventriculostomy. However, as third ventriculostomy is performed usually for intracranial hypertension treatment and intracranial hypertension itself is a known but rare cause of lacunar skull defect and encephalocele, this co-incidence may occur.

Encefalocele basal esfenoetmoidal associada a fissura labiopalatina mediana: relato de caso

Associação de encefalocele basal esfenoetmoidal com fissura labiopalatina é extremamente rara. Relatamos um caso de uma criança de nove anos de idade apresentando uma fissura facial mediana com meningocele, que era evidente através da falha do palato como uma massa mediana intranasal pulsátil. Uma análise dos aspectos clínicos e radiológicos deste caso de disrafia craniana foi realizada.

Transsellar transsphenoidal encephalocele: A series of four cases

Transsellar transsphenoidal encephalocele is the least common type of basal encephalocele. We present a series of four cases of transsellar transsphenoidal encephalocele. Clinical findings, imaging reviews, surgical repair techniques and postoperative morbidity are discussed with the relevant literature. Non contrast CT scan head with 3D reconstruction and magnetic resonance imaging should be done in all patients of transsphenoidal encephalocele. Endocrine assessment is also essential. Repair of a transsphenoidal encephalocele should be coordinated between a team of neurosurgeons and ENT surgeon. Our surgical outcome supports the transpalatal/ transnasal approach over the transcranial approach.

Temporal Lobe Encephalocele in the Lateral Recess of the Sphenoid Sinus Presenting with Intraventricular Tension Pneumocephalus

A basal encephalocele often shows an insidious clinical course. Only two cases of temporal lobe encephalocele accompanied with tension pneumocephalus have previously been reported. In this paper, we describe a case of lateral sphenoid sinus encephalocele presenting with intraventricular tension pneumocephalus. A 54-year-old man was referred to our institution presenting with intraventricular tension pneumocephalus. He had undergone ventriculoperitoneal shunt placement for postmeningitis hydrocephalus 3 months before this admission. Precise imaging examinations detected evidence suggestive of a lateral sphenoidal sinus recess encephalocele. Endoscopic transnasal approach was performed for surgical repair of the encephalocele. The encephalocele was removed with subsequent repair of the bony defect. Histological examination showed that the encephalocele includes a part of the ventricular system. This indicates that air might enter directly into the ventricular system after rupture of the temporal lobe encephalocele. A lateral sphenoid sinus encephalocele would potentially cause intraventricular tension pneumocephalus, although pneumocephalus is an extremely unusual complication of this type of basal encephaloceles.

Nasal encephalocele: Endoscopic excision with anesthetic consideration

Objective Nasal encephalocele may presents as a nasal mass, its treatment is surgical and it should be done early in life. When removal is indicated, there are multiple surgical approaches; including lateral rhinotomy, a transnasal approach and a coronal flap approach. However, the treatment of a basal intranasal encephalocele using transnasal endoscopic approach could obviates the possible morbidity associated with other approaches. The aim of this study was to evaluate the efficacy of endoscopic removal of intranasal encephalocele, also to document the role of anesthetist in the operative and postoperative periods. Methods Nine cases with nasal encephalocele were included in this study; CT and/or MRI were used in their examination. The lesions were removed via transnasal endoscopic approach. Preoperative evaluation, intervention and postoperative follow-up were presented with discussion of anesthesia used for those children. Results The lesions of all patients were removed successfully with no recurrence through the follow-up period of at least 21 months. No cases showed morbidity or mortality intra- or post-operatively. Conclusions Endoscopic excision of intranasal encephalocele is an effective method with high success rate. Anesthetist plays an important role in the operative and postoperative period, even during the endoscopic follow up; sedation of the children is usually needed.

Endoscopic Endonasal Skull Base Approach for Treatment of a Basal Encephalocele in a Patient with Morning Glory Syndrome

Endoscopic Endonasal Skull Base Approach for Treatment of a Basal Encephalocele in a Patient with Morning Glory Syndrome

Endoscopic endonasal management of encephaloceles in children: An eight-year experience

Objective Skull base encephaloceles are difficult to diagnose and to treat. Traditionally, they are approached externally via craniotomic routes. Endoscopic management of skull base defects is the standard treatment in adults. Our aim is to evaluate the efficacy and safety of endoscopic endonasal repair of basal encephaloceles in the paediatric population. Methods Retrospective evaluation of paediatric encephaloceles managed endoscopically at a tertiary referral centre. Results Eleven subjects fitted the criteria of the study. Mean age at surgery was 6.1 ± 4.6 SD years, while mean follow-up was 46.5 ± 28 SD months. Most of the defects were located in the anterior cranial fossa. All patients were managed successfully with no complications. Conclusions Endonasal endoscopic management of congenital encephaloceles is feasible in paediatric patients. Meticulous pre-op neuroimaging is of paramount importance when dealing with such cases.

A Non-midline Spheno-orbital Encephalocele in a Newborn

Basal encephaloceles in western countries occur in 1 of every 35 000-40 000 live births; with an incidence of less than 10% they are the least common of all encephaloceles. Certain subtypes such as transsphenoidal variants may be as rare as 1 in 700 000 live births. These rare encephaloceles are classified into five anatomic types: spheno-ethmodial, transsphenoidal, spheno-orbital, transethmoidal, and spheno-maxillary. Here we present an exceedingly rare variant of a non-midline basal encephalocele of the spheno-orbital type, which was treated by resection of the encephalocele, which contained dysplastic central nervous system tissue, on day four post partum. The patient had no neurological deficits and a six year follow-up showed a normal intellect and a good cosmetic result.

Acquired Anterior Basal Encephalocele in Idiopathic Hypertrophic Pachymeningitis

This report describes a 49-year-old woman diagnosed as idiopathic hypertrophic pachymeningitis (IHCPM) with imaging evidence of diffuse dural sinus thrombosis. Over the years, secondary to the raised intracranial pressure, she had developed an anterior basal encephalocele through the defects in the cribriform plate of the ethmoid bone. The relation between elevated intracranial pressure and encephalocele is discussed.

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.

Complications in the surgical treatment of craniosynostosis and craniofacial syndromes: apropos of 306 transcranial procedures

To review the complications in the surgical treatment of craniosynostosis in 306 consecutive transcranial procedures between June 1999 and June 2007. Surgical series consist of 306 procedures done in 268 patients: 155 scaphocephalies, 50 trigonocephalies, 28 anterior plagiocephalies, one occipital plagiocephaly, 20 non-syndromic multisutural synostosis and 32 craniofacial syndromes (11 Crouzon, 12 Apert, seven Pfeiffer and two Saethre-Chotzen) Complications and time of hospitalisation were reckoned. Surgical procedures were classified in 12 different types according to the technique: Type I: frontal-orbital distraction (26 cases); Type II: endoscopic assisted osteotomies in sagittal synostosis (39 cases); Type III: sagittal suturectomy and expansive osteotomies (44 cases); Type IV: same as type III, but including frontal dismantling or frontal osteotomies in scaphocephalies (59 cases); Type V: complete cranial vault remodelling (holocranial dismantling) in scaphocephalies (13 cases); Type VI: frontal-orbital remodelling without frontal-orbital bandeau in trigonocephaly (50 cases); Type VII: frontal-orbital remodelling without frontal-orbital bandeau in plagiocephaly (14 cases); Type VIII: frontal-orbital remodelling with frontal-orbital bandeau in plagiocephaly (14 cases); Type IX: Occipital advancement in posterior plagiocephaly (one case); Type X: Standard bilateral front-orbital advancement with expansive osteotomies (28 cases); Type XI: holocranial dismantling (complete cranial vault remodelling) in multisutural craniosynostosis (12 cases); Type XII: occipital and suboccipital craniectomies in multiple suture craniosynostosis (six cases). There was no mortality and all complications resolved without permanent deficit. Mean age at surgery was 6.75 months. Most frequent complication was non-filiated postoperative hyperthermia (13.17% of the cases) followed by infection (8.10%), subcutaneous haematoma (6.08%), dural tears (5.06%) and cerebrospinal fluid (CSF) leakage (2.7%). Number and type of complications was higher among the group of reoperated patients (12.8% of all): 62.5% of all the series infections, 93% of all dural tears and 75% of all CSF leaks. In relation to surgical procedures, endoscopic assisted osteotomies reported the lowest rate of complications, followed by standard frontal-orbital advancement in multiple synostosis, trigonocephalies and plagiocephalies. Highest number of complications was related to complete cranial vault remodelling (holocranial dismantling) in scaphocephalies and multiple synostoses and after the use of internal osteogenic distractors. Special consideration deserves two cases of iatrogenic basal encephaloceles after combined frontal-facial distraction. Finally, we establish considerations based on the complications related to every specific technique. Percentage and severity of complications relates to the surgical procedure and is higher among patients going for re-operation. Mean time of hospitalization is also modified by these issues.

Endoscopic treatment of traumatic basal encephaloceles: a report of 8 cases

Basal encephaloceles are rare entities that can present as congenital diseases; however, traumatic lesions due to head injuries or iatrogenic causes have been described in the literature. In this study the authors aimed to define placement techniques for free grafts in repairing traumatic basal encephaloceles and to describe the long-term effectiveness of endoscopic treatment. Between September 1997 and December 2006, 8 patients with traumatic encephaloceles underwent endoscopic surgery. A free graft following an underlay (2 cribriform plate and 4 ethmoid fovea defects) or obliteration (2 sphenoid defects) procedure was used as the repair material. All traumatic basal encephaloceles with the associated skull base defects and cerebrospinal fluid (CSF) leakage were successfully treated via the endoscopic approach. There were no major complications or recurrence of meningitis or leakage of CSF encountered after an average follow-up of 77 months. Long-term follow-up results demonstrated that endoscopic surgery was suitable for the treatment of traumatic basal encephaloceles. The underlay procedure is more appropriate than the overlay procedure in repairing large defects of the anterior skull base. Meticulous manipulations of the endoscope following precise autograft placement are mandatory for the successful repair of traumatic basal encephaloceles.