[Craniomeningeal dysrhaphism in the genesis of encephalocele; concerning a case of nasofrontal sincipital encephalocele].
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Craniofacial Abnormalities↗
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Nasal encephaloceles.
Nasal encephaloceles can be divided into frontoethmoidal and basal encephaloceles. Both conditions are very rare, but frontoethmoidal encephaloceles show a relatively high incidence (1:5,000) in Southeast Asia. The pathogenesis of encephaloceles may be explained by a disturbance in separation of surface ectoderm (epithelial layer) and neurectoderm (nervous tissue) in the midline just after closure of the neural folds. It should be regarded as a 'late' neurulation defect taking place during the 4th gestational week. Apoptosis appears to be related to this separation process. Frontoethmoidal encephaloceles can be recognized as a facial mass covered with normal skin, while basal encephaloceles may cause nasal obstruction or symptoms related to herniation of basal structures. Diagnostic CT or MR imaging delineates the anatomy of the herniated mass. Therapy for frontoethmoidal encephaloceles consists in excision of the cele, watertight closure of the dural defect and reconstruction of the skull defect. Basal encephaloceles may harbour vital herniated structures which should be saved. Hydrocephalus should be dealt with first, followed by elective single-stage reconstructive surgery. The prognosis appears to be better for patients with frontoethmoidal encephaloceles than for patients with occipital or parietal encephaloceles, and it depends largely on the presence of additional congenital anomalies of the brain. The differential diagnosis of a nasal mass must include nasal glioma, dermoid cyst, and nasal polyp.
Child↗
Sphenoid encephaloceles: disease management and identification of lesions within the lateral recess of the sphenoid sinus.
OBJECTIVES: Encephaloceles usually involve herniation of frontal lobe tissue through an anterior cranial fossa defect into the ethmoid sinus or nasal cavity. Encephaloceles can also result from temporal lobe herniation through a middle fossa defect into the sphenoid sinus. Within the sphenoid, encephaloceles are thought to occur most commonly in the central or midline aspect of the sinus. Lateral sphenoid encephaloceles, especially within the lateral aspect of the sphenoid sinus when the sphenoid sinus has pneumatized extensively into the pterygoid recess, are considered exceedingly rare. The objectives of the study were to review our experience with sphenoid encephaloceles to understand the relative frequency and the locations in which they occur within the sphenoid sinus and to report our experience in caring for patients with this condition. STUDY DESIGN: Retrospective review. METHODS: Retrospective review of patient records and operative reports from 1991 to 2000. RESULTS Twelve patients were treated for intrasphenoid encephaloceles during a 10-year period. Eight patients had lesions located in the lateral recess of the sphenoid sinus. Surgical repair was undertaken in all 12 cases using endoscopic techniques. In 11 of 12 cases, the repair was successful with follow-up times of 12 to 69 months (mean follow-up, 31.9 mo). CONCLUSIONS: Temporal lobe encephaloceles in the lateral sphenoid sinus have been reported rarely in the literature. Careful preoperative evaluation and localization of the sphenoid defect are critical for the selection of the optimal surgical approach for repair of the skull base defect. Our 10-year experience represents the largest group of patients treated endoscopically for intrasphenoid encephaloceles reported to date.
Adult↗
Anterior basal encephalocele of the neonatal and infantile period.
Diagnosis of occult basal encephalocele is not difficult if the peculiar clinical and radiological signs of this anomaly are borne in mind. Recent surgery for transsphenoidal encephalocele has had better results than realized. However, high surgical risks may still be encountered in transsphenoidal encephalocele of the early infantile period, because the pituitary-hypothalamic structures are usually incorporated in the herniated encephalocele of this age group. Surgical indications for and operative approaches to transsphenoidal encephalocele in the infantile period are discussed on the basis of the authors' failure in transcranial repair, which resulted in early postoperative death due to hypothalamic dysfunction. Reviewing the reported cases of anterior basal encephalocele, a high correlation between transsphenoidal encephalocele, particularly in the pediatric age group, and allied malformations of the face, eye, and brain was disclosed. This characteristic malformation complex may be explained by a common pathogenetic mechanism operating in the embryonal period at about the stage of the anterior neuropore closure and occurring in the ventral surface of the cephalic end of the neural tube. Three cases of transsphenoidal encephalocele diagnosed in the neonatal period with progressive obstruction in the nasopharyngeal airway are also reported. A characteristic malformation complex consisting of median cleft face syndrome, optic nerve dysplasia, and agenesis of the corpus callosum was associated in two cases; the other patient had an extremely rare combination of septooptic dysplasia. Two patients died pre- and postoperatively, respectively; the other patient did not undergo operation because of grave multiple anomalies.
Abnormalities, Multiple↗
Safety and efficacy of endoscopic repair of CSF leaks and encephaloceles: a survey of the members of the American Rhinologic Society.
The purpose of this article is to review the endoscopic management of cerebrospinal fluid (CSF) leaks and encephaloceles, with particular emphasis on safety and efficacy, by retrospective assessment utilizing the results of a mailed questionnaire. Surveys were mailed to members of the American Rhinologic Society with practices in both academic centers and/or private settings. Survey results were then assessed and tabulated. There were 635 mailings, with 197 responses (31%). Seventy-two (36% of respondents) indicated that they performed endoscopic management of CSF leaks and encephaloceles, while 125 (64% of respondents) did not. Respondents reported approximately 522 cases of CSF leaks and approximately 128 cases of encephaloceles managed by endoscopy. Success rates after a single procedure were estimated at 90% for CSF leaks and 93% for encephaloceles. Success rates after a secondary procedure were estimated at 86% and 97%, respectively; 29% of respondents have, at some point, made a referral to neurosurgery. A total of 13 complications related to endoscopic repairs were reported (2.5%). For CSF leak repair, complications included seizures, 0.2%; meningitis, 1.1%; and one reported case each of cavernous sinus thrombosis, temporary visual problems, sinusitis, and intracranial hypertension/bleed. There was only one reported death in the approximately 522 cases. Eleven complications following encephalocele repairs (8.5%) included seizures, 3.1%; meningitis, 2.3%; and one reported case each of brain abscess, sinusitis, false aneurysm of middle cerebral artery, and mild dizziness. No deaths following encephalocele repair were reported. The endoscopic management of CSF leaks and encephaloceles has become increasingly popular and has proven to have low morbidity and mortality with high success. Overall, our results confirm that in the hands of the skilled endoscopist, endoscopic management of CSF leaks and encephaloceles is highly efficacious and has a very low incidence of significant complication.
Bandages↗
Can prognostic indicators be identified in a fetus with an encephalocele?
Encephaloceles, like other congenital malformations of the brain diagnosable in utero, can be either complicated (there being an associated chromosomal abnormality, abnormalities in the remainder of the central nervous system (CNS) and/or other organs), or isolated (no abnormalities in the chromosomes, the remainder of the CNS or other organs). Complicated cases invariably have a poor prognosis but amongst those with isolated lesions the outcome is variable with some affected children having poor mental and physical development but others who are only mildly or moderately disabled. To be able to make an informed decision about how to manage their pregnancy parents need to know what the prognosis is likely to be for their fetus with an encephalocele. To see if the necessary information could be reliably gathered by prenatal assessment of affected fetuses, a review was carried out of the medical records and ultrasound scans of 31 fetuses with encephaloceles referred to the Fetal Management Unit at St. Mary's Hospital in Manchester between January 1991 and December 1997. Eighteen of the cohort were classified as having a complicated encephalocele. Thirteen of the pregnancies were terminated; there were three intrauterine deaths, and one neonatal death. There is only one surviving child who is severely disabled. Thirteen fetuses were classified as having isolated encephaloceles, six had a mass of neural tissue in the encephalocele sac and were terminated, one died in utero and six had a cystic lesion or only a nubbin and have survived with few or no abnormalities. This study has shown that it is possible to identify fetuses with an encephalocele with a favourable outcome.
Abnormalities, Multiple↗
The repair of frontal encephaloceles in Papua New Guinea.
Frontal encephaloceles are common in Papua New Guinea (PNG). Seventeen cases collected over 7 years are reported. Eleven frontal (sincipital) encephaloceles were repaired successfully via an extracranial approach. One of these patients with a frontonasal encephalocele developed a recurrence following the extracranial approach, which was subsequently repaired intracranially. Three patients with small naso-ethmoidal encephaloceles were repaired intracranially via an extradural approach. The other three cases have not yet had surgical correction. Complex craniofacial surgery which corrects hypertelorism as well as the encephalocele is unavailable in the developing world. For the general surgeon in the developing world, the extracranial approach is recommended for the frontonasal encephaloceles, and the intracranial approach for the naso-ethmoidal and naso-orbital encephaloceles. Hydrocephalus and epilepsy have not developed in the patients.
Child, Preschool↗
Intraorbital encephalocele: an important complication of orbital roof fractures in pediatric patients.
Orbital roof fractures are uncommon, and traumatic intraorbital encephalocele formation is a very rare complication of this type of injury. We treated 43 pediatric patients with orbital roof fractures at our center over a 4-year period. The aim of this study was to retrospectively investigate conditions that may lead to intraorbital encephalocele formation in children with orbital roof fractures. Each case was reviewed, and the cause of injury, associated clinical and computerized tomography findings, the Glasgow Coma Scale score on admission, neurological status, other bodily injuries, hospitalization time and type and width of the orbital roof fracture were recorded. The findings in 6 patients who developed encephaloceles were compared to corresponding findings in the 37 patients who did not develop this complication. A total of 44 orbital roof fractures were diagnosed by axial and coronal computed tomography scanning. Six of the 43 children developed intraorbital encephaloceles in the first month after head trauma. In each of these cases, magnetic resonance imaging demonstrated the intraorbital cystic lesion in communication with the subarachnoid space. The width of each orbital roof fracture was measured on axial and coronal computed tomography slices and was confirmed by measurements during surgery. The width of the fractures in the encephalocele cases ranged from 2-4 mm. Duraplasty and orbitoplasty were performed in all the patients with encephalocele. Pediatric patients with orbital roof fractures that exhibit more than 2 mm diastasis and are associated with frontal cerebral contusion may be at greater risk for developing intraorbital encephalocele. All such cases should be monitored closely and investigated further with magnetic resonance imaging.
Adolescent↗
Encephaloceles of the anterior cranial fossa.
From a total of 114 encephaloceles treated surgically at The Hospital for Sick Children in the 15 years to 1994, the case records of 17 patients with sincipital and 5 patients with basal defects were reviewed retrospectively. The condition was evident at birth in 64% of patients, while the remainder presented with either cerebrospinal fluid (CSF) rhinorrhea, nasal obstruction, or feeding difficulty. Hypertelorism affected 73% of patients. All encephaloceles were repaired transcranially, at a mean age of 2 years, usually by means of an intradural pericranial graft. Five children with gross hypertelorism underwent orbital translocation at the time of encephalocele repair. Of those not corrected, primary and secondary hypertelorism regressed in most instances where the encephalocele was treated before the age of 2 years. There were no deaths. The only case of CSF rhinorrhea occurred in a patient with a basal defect, in whom intradural repair was not possible because of adherence of diencephalic structures to the sac wall. Hypertelorism recurred in 1 patient after orbital translocation, requiring recorrection 2 years later. One patient with untreated secondary hypertelorism failed to regress after the encephalocele was excised at the age of 4 months. Developmental outcome was normal in 59% of children, whilst 18% have mild mental or physical disability, and 23% are severely impaired. A child with a sincipital or basal defect and mild hypertelorism should have the encephalocele treated in early childhood to allow the facial skeleton to remodel with growth. When an encephalocele is accompanied by gross hypertelorism or a facial cleft, one-stage correction can be undertaken safely in early childhood with minimal mortality and acceptable morbidity.
Encephalocele↗
Postneurulation rapid brain growth represents a critical time for encephalocele formation: a chick model.
Current theory regarding the pathogenesis of encephaloceles suggests that the defect occurs after neurulation is completed in which brain tissue herniates through defective mesodermal elements necessary for skull modeling. To better delineate the mechanisms of encephalocele development, we performed a variety of microsurgical manipulations in the developing cranium of the chick embryo during the postneurulation period of early rapid brain growth. The results of the study revealed that encephaloceles could be induced in 78% of chick embryos manipulated at stage 26 that had evidence of marked decompression of the primitive ventricle. On the other hand, control embryos or embryos manipulated without ventricular decompression at stage 26 did not develop encephaloceles (0 of 32). Embryos with decompression of the primitive ventricle treated at earlier stages (20-24) showed only a 5% incidence of encephaloceles. These findings suggest that there is both a critical time point during postneurulation rapid brain growth when encephaloceles are prone to occur and a mesenchymal defect associated with decompression of the primitive ventricle that must be present to induce encephaloceles.
Age Factors↗
Extramedullary hematopoiesis within a frontoethmoidal encephalocele in a newborn with holoprosencephaly.
We present the first report of extramedullary hematopoiesis (EMH) in an encephalocele. The patient was a new-born with semilobar holoprosencephaly, a frontoethmoidal encephalocele, and a large subdural hematoma. The encephalocele appeared as a hemorrhagic mass, protruding from the forehead to cover the right eye, without involvement of the sinuses or nasopharynx. Computerized tomography and magnetic resonance imaging studies ruled out other forms of holoprosencephaly and confirmed the continuity of the brain with the extruded mass. Immunohistochemistry confirmed the presence of an atrophic epithelium covering the mass. Histologic examination of the encephalocele revealed EMH both within and adjacent to malformed cerebral cortex, with a tendency for the hematopoietic cells to line up in columns within malformed cerebral cortex. We propose that a single event during the fourth week of gestation could both interrupt closure of the neural tube, giving rise to the encephalocele, and impair migration of the neural crest, leading to holoprosencephaly secondary to failure of neural crest derivatives to induce basomedial telencephalic differentiation. EMH may have been induced from hematopoietic stem cells in the richly vascular meningeal component of the encephalocele, in response to anemia and hypoxia.
Biomarkers↗
Transcranial approach for transsphenoidal encephalocele: report of two cases.
BACKGROUND: Whereas the transcranial approach has been regarded as the therapy of choice for transethmoidal encephalocele, its feasibility for transsphenoidal encephalocele has remained controversial, particularly in neonates and infants. CASE REPORT: Two cases of transsphenoidal encephalocele operated transcranially are presented. In the first case, this 6-year-old boy underwent a transpalatal operation with repair of a cleft palate in another hospital before admission. Reoperation via the transcranial route was carried out because of postoperative recurrent meningitis. With partial resection of the anterior wall, the encephalocele could be separated from the underlying tissue, and the interspace was filled with the pericranial flap. He made an uneventful recovery and has been well for the past 3 years. The second was a 3-month-old baby with a large encephalocele filling the nasopharyngeal space. As the cleft palate was absent, the transcranial approach was employed. In this case, the herniated tissue was excised at the lowest level possible. Postoperatively, panhypopituitarism became manifest. Re-evaluation of the preoperative magnetic resonance imaging (MRI) disclosed a small mass far below the dorsum sellae, which turned out to be an anomalous pituitary gland on histologic examination. CONCLUSIONS: The transcranial approach is considered a valid alternative for the therapy of transsphenoidal encephalocele, particularly when the transpalatal approach is unfeasible. While the anterior wall of the herniated sac may be safely resected, the posterior wall should under no circumstances be sacrificed. The preoperative MRI is essential, as it may provide valuable information as to the location of vital structures within the herniated tissue.
Child↗
Trans-sphenoidal and sphenoethmoidal encephalocele: report of two cases and review of the literature.
Basal encephaloceles are the least common form of encephalocele. Due to the critical position of the bony defect, visual and endocrinological abnormalities are frequently associated with basal encephaloceles. There is significant confusion in the classification of basal encephaloceles, particularly among trans-sphenoidal, sphenoethmoidal and intrasphenoidal subtypes. Two cases of basal encephaloceles are presented (one trans-sphenoidal and one sphenoethmoidal), along with a review of the literature. The relationship between the basal encephaloceles and endocrinological abnormalities is also emphasized.
Adolescent↗
Trans-sellar trans-sphenoidal encephaloceles: report of two cases.
Trans-sphenoidal encephaloceles are rare entities. Only about 20 such cases have been reported in the world literature to date. Among these, the trans-sellar variety is rarest (five cases). We present two cases of trans-sellar trans-sphenoidal encephaloceles seen over the last 12 years. The first case was a 5 month old male infant presenting with nasal obstruction and a mass in the mouth. The second case was a 14 year old boy presenting with chronic nasal obstruction since early childhood. In the first case, the mass was coming to the mouth through the split palate. In the second case, the mass could be seen in the posterior half of the nose by rhinoscopy. The computed tomography scans including coronal and sagittal reconstructions had revealed trans-sellar trans-sphenoid encephaloceles in both the patients. The magnetic resonance imaging in the second case showed the cavity and the structures of the floor of the third ventricle forming the main fundal contents. The magnetic resonance angiography revealed dipping of the ectatic anterior cerebral arteries in the neck of the encephalocele sac in this case. Extracranial trans-palatal approach and the repair of encephalocele was done in the first case with the palatal reconstruction at the same sitting. In the second patient, a trans-nasal approach with bilateral maxillotomies was performed to repair the encephalocele, and the skull base defect was repaired by a split rib graft, which was fixed with mini-plate and screws posteriorly at the clivus and anteriorly at the anterior edge of the bony defect. The cleft lip and hypertelorism also were corrected at the same sitting. Our first case had CSF leak on the 10th postoperative day and developed fulminant meningitis, despite appropriate antibiotics, and succumbed. The second patient had a good postoperative recovery and a satisfactory follow up for 2 years.
Adolescent↗
Anterior encephaloceles: a study of 92 cases.
Anterior encephalocele is a rare condition, and only a few large series have been published in the literature. Surprisingly, the incidence is much higher in Southeast Asian countries, including some parts of India. While the reported incidence in the West is between 1:35,000 and 1:40,000 live births, it is as high as 1:5,000 live births in Thailand. We present a series comprising 92 cases of anterior encephaloceles treated over a 30-year period (1971-2000). Frontoethmoidal encephaloceles are the commonest type, followed by the nasopharyngeal and orbital type. Among the frontoethmoidal encephaloceles, nasoethmoid is the commonest type, and these patients present with swelling over the bridge of the nose with significant hypertelorism and orbital deformities. The nasopharyngeal type remains occult and presents with nasal obstruction or CSF rhinorrhea. Rarely, the patient may present with meningitis. Since 1978, computed tomography (CT) scans have regularly been performed in our patients. CT scans delineate the skull defect and associated brain anomalies. There was associated hydrocephalus present in 12 patients and agenesis of the corpus callosum in 5 patients. In all patients, one-stage repair of the encephalocele and correction of bony anomalies by appropriate osteotomy was undertaken. Since 1988, in cases of frontoethmoidal encephalocele with significant hypertelorism, medial advancement of the medial half of the orbits on either sides was carried out, instead of a classical Tessier's operation. Postoperative morbidity included CSF leak in 20 patients, wound infection in 2 and chest infection in 3. There were 3 deaths in our study. The overall cosmetic outcome was good.
Adolescent↗
Intrasphenoidal transsellar encephalocele repaired by endoscopic approach.
Spontaneous sphenoidal encephaloceles are rare entities. In the case of intrasphenoidal encephaloceles, most defects are temporosphenoidal and occur in the lateral wall of the sphenoidal sinus. There have been to our knowledge only 7 reports of medial, transsellar encephaloceles in the literature. We report a case of intrasphenoidal transsellar encephalocele that was successfully managed through an endoscopic approach with complementary lumboperitoneal shunting. This disorder presents a challenge in surgical management because of the involvement of opticochiasmatic structures, the hypothalamopituitary axis, and the delicate vasculature of the circle of Willis in and around the encephalocele, besides proximity to the cavernous sinus. Rhinologists should be aware of these malformations, since the optic nerve or chiasma may be totally exposed in the sphenoidal sinus in the course of this disease. This case illustrates the need for magnetic resonance imaging in case of sphenoidal abnormalities, as well as the possibility of endonasal repair without a transcranial approach for large intrasphenoidal encephaloceles.
Encephalocele↗
Developmental anterobasal temporal encephalocele and temporal lobe epilepsy.
The authors describe the association between an antero-basal temporal lobe encephalocele and medically intractable temporal lobe epilepsy in three patients treated successfully by surgery. Two men and one woman, aged 26 to 37 years (mean 31 years), had onset of complex automatism and generalized seizures in their second and fourth decades (mean age 22.7 years). They had been epileptic for 6 to 14 years (mean 8.3 years) before surgery. Preoperative electroencephalograms localized ictal epileptic activity to the left mesial temporal lobe in all cases, and neuropsychological testing revealed dominant temporal lobe dysfunction. Magnetic resonance (MR) imaging demonstrated an anteromedial basal temporal encephalocele extending into the pterygopalatine fossa through a bone defect at the base of the greater sphenoid wing in the region of the foramen rotundum and pterygoid process, a discrete center of embryonal chondrification. At surgery, the encephaloceles were found in front of the uncus, and an area of gliosis extended from the encephalocele to the amygdalohippocampal region. All patients have been seizure-free following anterior temporal resection and amygdalohippocampectomy including the encephalocele. These three cases delineate a condition of disordered embryogenesis wherein a developmental anterobasal temporal encephalocele acts as the substrate for temporal lobe epilepsy. This lesion may be diagnosed preoperatively with MR imaging and should be considered in the differential diagnosis of late-onset temporal lobe epilepsy.
Adult↗
[A case of holoprosencephaly with parietal encephalocele].
Holoprosencephaly, as described by DeMyer, is a cerebral malformation in which the embryonic prosencephalon fails to divide into cerebral hemispheres. According to the degree of division in the prosencephalon, he classified holoprosencephaly into three types; alobar, semilobar and lobar type. We have experienced a case of holoprosencephaly with parietal encephalocele. The patient was admitted to our hospital 4 hours after birth because of parietal encephalocele. A radical operation was carried out and encephalocele was diagnosed histologically. After discharge from our hospital, his psychosomatic development was remarkably delayed. On Oct. 20, 1985, he was re-admitted for further examination. CT-scan and cerebral angiography showed characteristic findings. The classification of holoprosencephaly and dorsal cyst malformation is discussed. On encephalocele with holoprosencephaly, it is said that there may be an extra-calvarial extension of the dorsal sac or ventricular system. But, Hutchinson stated in his experience that first, a closure disorder of the neural tube caused encephalocele. And later a disorder of diverticularization produced the holoprosencephalic abnormality. He suggested that there were two independent disorders of organogenesis which might rarely occur in the same patient. We also reported a similar case of holoprosencephaly with parietal encephalocele which has some controversial problems.
Abnormalities, Multiple↗