Transsphenoidal Encephalocele Research Articles

Trans-sellar-trans-sphenoidal encephalocele presenting as nasal obstruction in an infant: a case report and systematic review of existing reports.

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

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.

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.

Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case.

A very few case reports were done in the literature about transsphenoidal encephalocele (TSE) with colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient. No such case report was made from India.

Cognitive improvement following repair of a basal encephalocele

We report the case of a 55-year-old woman presenting with progressive memory impairment secondary to a transsphenoidal encephalocele involving her dominant medial temporal lobe. Her clinical deterioration was accompanied by radiological progression in the encephalocele's size and associated encephalomalacia. Through a temporal craniotomy, her encephalocele was resected and the defect closed. Baseline neuropsychological assessment indicated global cognitive impairment, but post-operatively, she reported improved memory and concentration. Standardized assessment reflected an improvement in perceptual skills and an associated improved recall of a complex figure. This is the first case report to date of a patient's memory improving following treatment of a basal encephalocele.

Transpalatine Route for the Correction of Transsphenoidal Encephalocele in a Child: A Case Report and Literature Review

Introduction Transsphenoidal encephalocele is a rare neural tube defect characterized by the herniation of meninges and eventually of parts of the brain through a bony defect in the sphenoid bone. The clinical presentation is variable, and surgical treatment is controversial. Case Report This report describes the case of an 8-month-old female child diagnosed with transsphenoidal encephalocele. The child presented with obstruction of the upper airways and was fed via a nasogastric tube but did not present changes in the hypothalamic-pituitary-axis. The patient underwent surgery with the transsphenoidal–transpalatine route, with an excellent outcome and without fistulas or infections. Conclusions Although transsphenoidal encephalocele is a rare congenital anomaly, the transsphenoidal–transpalatine route for the correction of this type of encephalocele is a safe option and produces a favorable outcome in pediatric patients.

Morning glory syndrome associated with transsphenoidal encephalocele and panhypopituitarism

Morning glory syndrome associated with transsphenoidal encephalocele and panhypopituitarism

A rare cause of short stature: transsphenoidal encephalocele

Basal encephaloceles are rare, accounting for about 1.5% of all encephaloceles. Transsphenoidal encephaloceles represent less than 5% of basal encephaloceles. Respiratory and feeding difficulties due to mass effect in the oral or nasal cavity and episodes of recurrent meningitis are the main clinical features. Diagnosis is established in the first year of life, but without characteristic facies, the diagnosis can be delayed to adolescence or adulthood. We report the case of a 10-year-old boy who presented with short stature and eventually was diagnosed with a growth hormone deficiency because of mass effect of transsphenoidal encephalocele. Unusual presentation of an encephalocele as a short stature is described.

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.

Intrasphenoidal Meningo-encephalocele: Report of two rare cases and review of literature

Background:Transsphenoidal encephaloceles represent a rare clinical entity with wide range of symptoms in adult. Such lesions require accurate diagnosis and surgical treatment. The incidence of congenital encephalocele is very low occurring in approximately 1 in 3000-5000 live births. Even though 63 similar cases have been reported in the literature not all of them have been discussed completely. Due to the rare occurrence of these lesions, we will focus on the main clues in the diagnosis and management of such lesions, which are challenging.Case Description:We intend to present our experience with two cases of trans-sphenoidal meningoencephalocels, one located medially and the other herniating through the Sternberg's canal. The younger was 17 and the elder was 47 years old and both of them presented with cerebrospinal fluid (CSF) leakage. Both patients were treated successfully using pure endoscopic endonasal approach.Conclusion:Ideal surgical approach for such patients is still not clear due to lack of adequate experience in the literature, it is suggested that full preoperative imaging studies might lead the surgeons to undertake minimally invasive skull base approaches in similar patients.

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.

Successful Staged Correction of Transsphenoidal Encephaloceles

Transsphenoidal encephaloceles are rare cystic herniations of meninges, cerebrospinal fluid, and/or brain matter resulting from incomplete closure of the cranial base and may be associated with midfacial, central nervous system, and endocrine anomalies. Although some centers choose not to operate because of risks, the authors document their staged operative approach to avoid recurrent meningitis, progressive neurologic decline, and other symptoms. Patients with symptomatic transsphenoidal encephaloceles who underwent staged treatment with intracranial and transpalatal cyst correction, facial bipartition, and cleft palate repair were studied (n = 4). Outcome measures included perioperative complications, recurrence, interdacyron distance comparison, and speech and developmental assessments. The authors' staged correction of transsphenoidal encephaloceles as detailed in this article proved successful in all four patients, with no recurrence of meningitis, no cerebrospinal fluid leakage, alleviation of headaches, aesthetic improvement, and no encephalocele relapse. Skeletal correction by computed tomographic scan showed correction of interdacyron distance with a mean 22-mm reduction (56 percent). After the initial procedure of encephalocele correction, speech scores fell from 2.2 (borderline incompetent) to 7.9 (incompetent) but improved after the cleft palate repair and speech therapy to 1.4 (borderline competent). Follow-up developmental tests showed normal global evaluations in memory and attention skills in all but one patient (who had persistent deficiencies consistent with preoperative evaluations). A staged operative treatment for symptomatic transsphenoidal encephaloceles offers functional and morphologic correction.

SURGICAL MANAGEMENT OF CONGENITAL MEDIAN PERISELLAR TRANSSPHENOIDAL ENCEPHALOCELES WITH AN EXTRACRANIAL APPROACH

Median perisellar congenital transsphenoidal encephalocele (CTE) is a rare entity associated with multiple endocrine, visual, and respiratory deficits. The most likely causative factor for these pathological alterations is distension of neural structures (hypothalamic-pituitary system, optic pathway), resulting in protrusion of the dural sac through a sphenoid bone defect into the pharynx. The continuity with the extracranial space can be associated with an increased risk of tearing of the sac, with consequent cerebrospinal fluid leakage and subsequent increase in the risk of infection. We retrospectively reviewed the surgical treatment of CTE in our hospital using either an extracranial transoral or transnasal approach. We retrospectively reviewed our database. Between July 1994 and June 2005, CTE we identified 6 patients. Five of them were treated by a surgical intervention. The first patient was treated via a transcranial approach but had a relapse of the prolapse 11 years later. The relapse was treated with an extracranial transpalatal approach. Four patients were treated with an extracranial surgical approach: an extracranial transoral approach was performed in 2 cases, and an extracranial transnasal approach was used in the other 2 cases. Surgery was not performed in 1 patient because the parents refused to consent to the procedure. Preoperative symptoms remained stable or improved in all of the patients after the surgical procedure and worsened in the patient who did not have a surgical intervention. Two patients experienced a palatal dehiscence. No mortality was recorded in this series of patients. The surgical treatment of CTE is indicated to stop the progression or improve symptoms related to this disease entity. If approached correctly, the extracranial approach is a safe procedure with subsequent low morbidity.

Combined endoscopic-microsurgical approach for transsphenoidal (sphenopalatine) encephalocele with an intralesional pituitary gland

The treatment of the transsphenoidal sphenopalatine encephalocele in infants has not been thoroughly described in the literature. Pterional and subfrontal transbasal approaches have been reported as the advised treatment for transethmoidal encephalocele, but their feasibility for transsphenoidal encephalocele remains controversial, particularly in neonates. The potential harm to vital structures within the herniated tissue and intraoperative bleeding have been considered the major cause of poor postoperative results. The authors present the case of a full-term newborn with a cleft palate and a large transsphenoidal sphenopalatine encephalocele, which filled the nasopharyngeal space and provided MR imaging evidence of an intralesional pituitary gland. The lesion is unusual, and the extracranial intraoral endoscopic approach with an optimal outcome and sparing of the pituitary tissue has never been described in detail in an infant of this age.

Adult-onset diabetes insipidus caused by congenital midline brain abnormalities

A 30-year-old man presented with a 4-month history of polyuria and polydypsia. There was no significant past medical history and no significant family history as he was adopted Clinical examination revealed an obese gentleman with a body mass index of 45 kg/m2. His blood pressure was 130/80 mmHg and fundus examination was normal. Examination of his external genitalia revealed a small penis and testicular volume of 10 ml each. His full blood count, glucose, electrolytes, liver and bone profile were normal. Serum prolactin=463 mU/litre, insulin-like growth factor=15.7 nmol/litre (normal range (NR) =13–45 nmol/litre), free thyroid hormone level=9.8 pmol/ litre (NR=10–23 pmol/litre), testosterone=1.7 nmol/litre (NR=10–40 nmol/litre), cortisol=484 nmol/litre rising to 880 nmol/litre after Synacthen. Luteinizing hormone level was 0.1 u/litre rising to 1.7 after luteinizing hormone-releasing hormone, thyroid-stimulating hormone=0.98 mU/litre rising to 8.9 mU/litre after thyrotropin-releasing hormone stimulation. These results suggested partial anterior pituitary deficiency affecting the gonadal and thyroid axis. Urine failed to concentrate more than 100 mmol/litre during an 8-hour water deprivation test. After desmopressin, urine osmolality rose to 535 mmol/litre. Plasma arginine vasopressin levels were undetectable throughout the test indicating cranial diabetes insipidus. A magnetic resonance imaging scan of the brain (Figure 1) showed absence of the posterior portion of the corpus callosum. A transsphenoidal encephalocele was demonstrated with stretching of the hypothalamus, optic chiasm and pituitary gland through the defect.

Agenesia da artéria carótida interna: relato de caso

Relata-se, aqui, caso de uma adolescente de 14 anos de idade que apresentou episódio isolado de síncope, sem outros sintomas. No exame de ressonância magnética observou-se, nos cortes nos planos axial e coronal ponderados em T2, ausência do flow void da artéria carótida interna direita na sua porção intracavernosa. Realizou-se, então, angiorressonância magnética técnica time-of-flight, que mostrou ausência da artéria carótida interna direita, o que foi comprovado com a angiorressonância magnética de vasos cervicais e com angiotomografia computadorizada, que mostrou, nos cortes axiais, agenesia do canal carotídeo direito. Tal achado é relatado na literatura, em associação com outras anomalias, como encefaloceles transesfenoidais e aneurismas do polígono de Willis. No presente caso, não foram observadas tais associações. A paciente permaneceu assintomática.

Basal encephalocele associated with morning glory syndrome: case report

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging.

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 encephalo celes 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.

A case of bilateral morning glory disc anomaly and associated transsphenoidal encephalocele

Morning glory disc anomaly (MGDA) is a congenital ocular defect characterized by a funnel shaped excavation of the posterior fundus incorporating the optic nerve head. Not only has the condition been associated with both rhegmatogenous and non-rhegmatogenous retinal detachments, it has been associated with systemic abnormalities such as midline and paramidline facial anomalies, transsphenoidal encephalocele, and endocrine abnormalities. Coordinated care of these patients may be useful in ruling out associated systemic anomalies, especially in children where intervention can be beneficial in correcting growth pattern abnormalities related to endocrine dysfunction.