Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.

BACKGROUND: Drug-resistant epilepsy is a common condition in patients with brain neoplasms. The pathogenesis of tumor-associated seizures is poorly understood. Among the possible pathogenetic mechanisms, the increase in glutamate concentration has been proposed. Glutamate transporters, glutamine synthetase and pyruvate carboxylase are involved in maintaining the physiological concentration of glutamate in the intersynaptic spaces. In our previous research on angiocentric gliomas, we demonstrated that all tumors lacked the expression of the main glutamate transporter EAAT2, while the expression of glutamine synthetase and pyruvate carboxylase was mostly preserved. METHODS: In the present study, we evaluated the immunohistochemical expression of EAAT2, glutamine synthetase and pyruvate carboxylase in a heterogeneous series of 25 long-term epilepsy-associated tumors (10 dysembryoplastic neuroepithelial tumors, 7 gangliogliomas, 3 subependymal giant cell astrocytomas, 3 rosette forming glioneuronal tumors, 1 diffuse astrocytoma MYB- or MYBL1-altered and 1 angiocentric glioma). In order to evaluate the incidence of variants in the SLC1A2 gene, encoding EAAT2, in a large number of central nervous system tumors we also queried the PedcBioPortal. RESULTS: EAAT2 protein expression was lost in 9 tumors (36 %: 3 dysembryoplastic neuroepithelial tumors, 1 ganglioglioma, 3 subependymal giant cell astrocytomas, 1 diffuse astrocytoma MYB- or MYBL1-altered and 1 angiocentric glioma). Glutamine synthetase protein expression was completely lost in 2 tumors (8 %; 1 ganglioglioma and 1 diffuse astrocytoma MYB- or MYBL1-altered). All tumors of our series but rosette forming glioneuronal tumors (in which neurocytic cells were negative) were diffusely positive for pyruvate carboxylase. Consultation of the PedcBioPortal revealed that of 2307 pediatric brain tumors of different histotype and grade, 20 (< 1%) had variants in the SLC1A2 gene. Among the SLC1A2-mutated tumors, there were no angiocentric gliomas or other LEATs CONCLUSIONS: In conclusion, unlike angiocentric gliomas where the EAAT2 loss is typical and constant, the current study shows the loss of EAAT2 expression only in a fraction of the LEATs. In these cases, we may hypothesize some possible epileptogenic role of the EAAT2 loss. The retained expression of pyruvate carboxylase may contribute to determining a pathological glutamate excess unopposed by glutamine synthetase that resulted expressed to a variable extent in the majority of the tumors. Furthermore, we can assume that the EAAT2 loss in brain tumors in general and in LEATs in particular is more conceivably epigenetic.

Laser interstitial thermal therapy (LITT) for pediatric patients affected by intracranial tumors.

Introduction: The surgical treatment of brain tumors has evolved over time, offering different strategies tailored to patients and their specific lesions. Among these strategies, Laser Interstitial Thermal Therapy (LITT) is one of the most recent advances in pediatric neurooncological surgery, and its results and evolution are still under assessment. Methods: We retrospectively analyzed data from six pediatric patients with deep-seated brain tumors treated with LITT at a single center between November 2019 and June 2022. A total of four patients underwent a stereotaxic biopsy during the same operating session. The indications and preparation for LITT, technical issues, clinical and radiological follow-up, impact on quality of life, and oncological treatment are discussed. Results: The mean patient age eight years (ranging from 2 to 11 years). The lesion was thalamic in four patients, thalamo-peduncular in one, and occipital posterior periventricular in one. In total, two patients had been previously diagnosed with low-grade glioma (LGG). Biopsies revealed LGG in two patients, ganglioglioma grade I in one, and diffuse high-grade glioma (HGG) in one. Postoperatively, two patients presented with transient motor deficits. The mean follow-up period was 17 months (ranging from 5 to 32 months). Radiological follow-up showed a progressive reduction of the tumor in patients with LGG. Conclusion: Laser interstitial thermal therapy is a promising, minimally invasive treatment for deep-seated tumors in children. The results of lesion reduction appear to be relevant in LGGs and continue over time. It can be used as an alternative treatment for tumors located at sites that are difficult to access surgically or where other standard treatment options have failed.

Is endoscope-assisted strip craniectomy the future of metopic suture craniosynostosis treatment? An 11-year experience with 62 patients.

OBJECTIVE: Endoscopic mini-invasive treatment for sporadic trigonocephaly is becoming a widely accepted surgical treatment. In most centers this treatment is performed in association with postoperative helmeting. The aim of the present study was to review and report the authors' 11-year experience of endoscope-assisted metopic suturectomy for treatment of 62 trigonocephaly patients without helmet use. METHODS: For this retrospective study, clinical data of 62 consecutive pediatric patients (age 3-8 months) were obtained from the data bank of the "Anna Meyer" Children Hospital. These patients had been diagnosed with trigonocephaly (type II and III) and undergone surgery performed with a mini-invasive endoscopic technique during the period from January 2011 to January 2022. No helmet was used postoperatively in these patients, and they were evaluated through craniometric measurements, pre-/postoperative photographs, and parents' impressions, as well as thorough clinical examinations during follow-up appointments. RESULTS: The mean patient follow-up period was 6 ± 1.3 years. The female/male ratio was 1:2; 52% of the patients presented with type II trigonocephaly and the remaining patients with type III. The mean age at surgery was 153 ± 44 days (5 ± 1.5 months, range 3-8 months). In 92% of the patients the surgical outcome was defined as good to excellent. However, 4 patients presented with an unsatisfactory outcome, including 1 patient with a CSF collection requiring surgical repair 2 months after the first surgery and 1 patient who developed infection of the surgical wound and needed a second surgery. In the latter patient the outcome was evaluated as satisfactory, and no sequelae regarding the infection were encountered during follow-up. CONCLUSIONS: According to the authors' experience, endoscopic metopic suturectomy alone, without the use of a helmet, is a valid surgical option for trigonocephaly treatment, and its application can be considered in patients of older age groups (up to 8 months). Thus, in the right patient selection context, this technique represents the treatment of choice.

Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life.

Our purpose was to investigate the incidence of gliomas and neuronal-glial tumors, their outcome, and H3.3K27M, BRAFV600E, and IDH status in children within 1 year of age affected by CNS tumor. We collected 28 consecutive gliomas and mixed tumors. Immunohistochemistry and/or molecular analyses were performed on formalin-fixed/paraffin-embedded specimens. 24 (86%) tumors were supratentorial. 15 (54%) tumors were astrocytomas (5 glioblastomas, 1 anaplastic astrocytoma, 1 pilocytic astrocytoma, 3 pilomixoid astrocytomas, 2 subependymal giant cell astrocytomas, 3 astrocytomas not otherwise specified (NOS)), 4 (14%) were anaplastic ependymomas, and 9 (32%) were mixed tumors (5 gangliogliomas, 2 gangliocytomas, 2 desmoplastic infantile gangliogliomas (DIGs)). Alive patients were: 4 (67%) affected by high-grade astrocytoma (mean follow-up 64 months), 4 (67%) affected by low-grade astrocytoma (mean follow-up 83 months), 2 (67%) affected by astrocytoma NOS (mean follow-up 60 months), 1 (25%) affected by anaplastic ependymoma (follow-up 12 months), and 9 (100%) affected by mixed tumors (mean follow-up 74 months). H3.3K27M and IDH were not-mutated in any tumor (100%). BRAFV600E mutation was documented in 6 (21%) tumors (4 gangliogliomas, 1 gangliocytoma, and 1 astrocytoma NOS resulted as anaplastic pleomorphic xanthoastrocytoma 8 years later). Gliomas and mixed tumors diagnosed within 1 year of age are morphologically heterogeneous. Moreover, analogously to those affecting older children, they are IDH1-2 and H3.3K27M (when located outside midline) not-mutated while BRAFV600E mutation is typical of gangliogliomas/gangliocytomas and pleomorphic xanthoastrocytomas. High-grade astrocytomas have a more favorable prognosis compared with the same lesions occurring later in life while ependymomas have a poorer outcome.

The management of pediatric severe traumatic brain injury: Italian Guidelines.

INTRODUCTION: The aim of the work was to update the "Guidelines for the Management of Severe Traumatic Brain Injury" published in 2012, to reflect the new available evidence, and develop the Italian national guideline for the management of severe pediatric head injuries to reduce variation in practice and ensure optimal care to patients. EVIDENCE ACQUISITION: MEDLINE and EMBASE were searched from January 2009 to October 2017. Inclusion criteria were English language, pediatric populations (0-18 years) or mixed populations (pediatric/adult) with available age subgroup analyses. The guideline development process was started by the Promoting Group that composed a multidisciplinary panel of experts, with the representatives of the Scientific Societies, the independent expert specialists and a representative of the Patient Associations. The panel selected the clinical questions, discussed the evidence and formulated the text of the recommendations. The documentarists of the University of Florence oversaw the bibliographic research strategy. A group of literature reviewers evaluated the selected literature and compiled the table of evidence for each clinical question. EVIDENCE SYNTHESIS: The search strategies identified 4254 articles. We selected 3227 abstract (first screening) and, finally included 67 articles (second screening) to update the guideline. This Italian update includes 25 evidence-based recommendations and 5 research recommendations. CONCLUSIONS: In recent years, progress has been made on the understanding of severe pediatric brain injury, as well as on that concerning all major traumatic pathology. This has led to a progressive improvement in the clinical outcome, although the quantity and quality of evidence remains particularly low.

Use of High-Dose Chemotherapy in Front-Line Therapy of Infants Aged Less Than 12 Months Treated for Aggressive Brain Tumors.

Introduction: Malignant brain tumors in infants less than 12 months of age are extremely rare, and they have poor prognosis. We evaluated genetic characteristics and response rates of infants with congenital brain tumors subjected to high-dose chemotherapy and autologous stem cell transplant after gross total tumor resection. Materials and Methods: In total, 10 infants, aged less than 12 months, were enrolled in this study. The median age was 56 days (range: 1-279 days). Pathological examination demonstrated the following: four anaplastic astrocytomas, two glioblastomas, two central nervous system (CNS) embryonal tumors, not otherwise specified (NOS), and two atypical teratoid/rhabdoid tumors. Results: All patients were exposed to induction chemotherapy regimen, two high-dose chemotherapy courses, and autologous stem cell transplant after maximal surgery. At 1-3-5 years, the global overall survival (OS) was 90, 70, and 70% and the progression-free survival (PFS) was 80-60 and 60%. In all the patients, the copy number variants (CNVs) profile was analyzed using the SNP/CGH array approach. To investigate the clinical relevance of germline SMARCB1 mutation in AT/RT patients, we performed sequence analysis of the coding regions. The two patients with AT/RT were found to have germline SMARCB1 mutations. No BRAF mutations were found, and only NTRK gene fusion was present in one patient. We also have examined the association with OS and PFS and different histological subtypes of infant CNS proving that high-grade astrocytoma has better overall survival than other tumor types (p: 0.007 and p: 0.0590). Conclusion: High-dose chemotherapy regimen represents a valid therapeutic approach for congenital brain tumors with a high rate of response. The molecular analysis has to be analyzed in all infants' brain tumor types. High-grade gliomas are characterized by a better prognosis than other histologies of infant CNS.

Respiratory and volumetric changes of the upper airways in craniofacial synostosis patients.

To assess postoperative changes of the upper airway in a pediatric syndromic cranial-synostosis (SCS) population who underwent Le Fort III (LFIII) or frontofacial advancement by distraction osteogenesis (DO). Charts' review of 25 SCS infants presented at our tertiary-care children's hospital between January 2005 and December 2016 was performed. Preoperative (T0) and postoperative (T1) three-dimensional computed tomography (3D-CT) and polysomnography (PSG) were recorded. Differences between T0 and T1 airway volumes and changes in PSG data were analyzed. 18 patients were included. The mean T0 and T1 volumes were calculated as 15.963 mm3 ± 7.181 SD and 24.550 mm3 ± 12.946 SD, respectively. Airway areas increased significantly (p < 0.05) in the total study-group by a median value of 8.004 mm3, together with a global 72.22% improvement in respiratory parameters. A statistically significant gain of the upper airway after LF III and DO in SCS patients has been demonstrated. Given the absence of a direct relationship between post-operative upper airway volume increase and OSAS degree improvement, further insights should consider performing T0 and T1 sleep endoscopy analysis to complete the diagnostic workup and to better assess the level of residual or recurrent upper airway obstruction in patients who experience unsuccessful surgical treatment.

Anastomotic patterns of the facial parotid plexus (PP): A human cadaver study.

Details of the human facial parotid plexus (PP) are not readily accessible during ordinary anatomical teaching because of insufficient time and difficulties encountered in the preparation. For parotid and facial nerve surgery however, precise knowledge of PP is of crucial importance. The aim of this study was therefore to provide more details of PP in anatomic specimens. Following anatomical dissection, its location, syntopy and morphology were analyzed in 158 cervico-facial halves of 95 cadavers. The facial nerve (FN) divides into a larger temporo-facial and a smaller cervico-facial trunk. Both trunks branch, form PP, and thus form connections along six distinctive anastomotic types. These anastomoses may explain why accidental or essential severance of a supposed terminal facial branch fails to result in the expected muscle weakness. However, whereas earlier anatomical and clinical studies report connections between both trunks in 67-90% of the cases, our data indicate the presence of anastomoses only in 44%. One reason for this difference may be found in our microscope-assisted dissection in infratemporal regions from which the parotid gland has been removed. Thereby we tracked both FN-trunks in both directions - distally and proximally - and determined the exact origin of all terminal FN branches. This lower rate of occurrence of connections between both trunks reduces the chances of luckily preserved muscle innervation and enhances the risk of facial palsy after transection of a terminal branch. Accordingly, precise anatomical knowledge on PP should be renewed and transection of facial nerve branches avoided.

Interdural cavernous sinus dermoid cyst in a child: case report.

Interdural dermoid cysts (DCs) of the cavernous sinus (CS), located between the outer (dural) and inner layer (membranous) of the CS lateral wall, are rare lesions in children. The authors report on a 5-year-old boy with third cranial nerve palsy and exophthalmos who underwent gross-total removal of an interdural DC of the right CS via a frontotemporal approach. The patient had a good outcome and no recurrence at the 12-month follow-up. To the best of the authors' knowledge this is the second pediatric case of interdural DC described in the literature.

Deep Brain Stimulation of the Anterior Limb of the Internal Capsule May Be Efficacious for Explosive Aggressive Behaviour.

BACKGROUND: Intermittent explosive disease (IED) is a psychiatric disorder characterized by intermittent attacks of rage and violence frequently resistant to pharmacological therapy. Deep brain stimulation (DBS) of the posteromedial hypothalamus has been applied with fair results and clinical improvement with some surgical morbidity due to neurovegetative side effects. The anterior limb of the internal capsule/ventral capsule/ventral striatum (VC/VS) has never been used alone as a target for this disease. OBJECTIVES: The aim of this study is to evaluate the efficacy of bilateral DBS of the VC/VS for the treatment of IED. METHODS: We performed bilateral DBS of the VC/VS in a 21-year-old patient with IED. This young man had a traumatic birth complicated by hypoxia, and he showed a mild mental impairment. Different pharmacological treatments were carried out with no results before DBS was proposed to the patient's relatives after multidisciplinary approval. RESULTS: After 22 months of high-frequency monopolar bilateral DBS of the VC/VS, the patient showed a significant improvement. Postoperative 18F-FDG PET-CT studies ruled out a reduction of the hypermetabolic areas located in the limbic system previously detected in pre-operative investigations. CONCLUSIONS: Bilateral DBS of the VC/VS may be considered for the treatment of IED without the risk of neurovegetative side effects.

Amenorrhea after Endoscopic Third Ventriculostomy for a Failed Shunt in Spina Bifida: Case Report and Review of the Literature.

BACKGROUND: Secondary endoscopic third ventriculostomy (ETV) for the management of shunt failure may be efficacious, though it may be followed by more frequent complications (including endocrinological impairment, e.g., amenorrhea) compared to primary ETV. These complications are usually underreported in the literature. AIM: We report a case of secondary amenorrhea after ETV for the management of shunt failure in a young woman with hydrocephalus associated with myelomeningocele. METHODS: A 25-year-old woman affected by hydrocephalus and myelomeningocele was admitted for secondary ETV for the management of shunt failure. The endoscopic procedure was preferred over shunt revision based on good results of secondary ETV, especially in patients with hydrocephalus associated with Chiari II malformation and spina bifida. RESULTS: Despite the surgery being uneventful, the patient had early (postoperative seizure) and late (secondary amenorrhea) complications. In the early postoperative period, she received external ventricular drainage followed by VP shunt reimplantation 2 weeks later. There was no neurological morbidity, but 1 month after the ETV she reported secondary amenorrhea and weight gain. Laboratory investigations ruled out hyperprolactinemia, which had been treated with cabergoline administration with no efficacy since the patient was still without regular periods 1 year later. CONCLUSION: ETV may be followed by endocrinological complications like amenorrhea that are rarely reported.

Complex craniofacial advancement in paediatric patients: Piezoelectric and traditional technique evaluation.

PURPOSE: The piezoelectric device allows bone cutting without damaging the surrounding soft tissues. The purpose of this study was to assess the role of this surgical instrument in paediatric craniofacial surgery in terms of safety and surgical outcomes. METHODS: Thirteen consecutive paediatric patients underwent craniofacial Le Fort osteotomies type III and IV. The saw was used on the right side in seven patients and on the left side in six patients; the piezoelectric instrument was used on the right side in six patients and on the left side in seven patients. Intraoperative blood loss, surgical procedure length, incision precision, postoperative haematoma and swelling, and nerve impairment were evaluated to compare the outcomes of both procedures. RESULTS: A longer surgical procedure was observed in 28% of the patients when using the piezoelectric device (p = 0.032), with an intraoperative blood loss reduction of 18% (p = 0.156). Greater precision in bone cutting was reported, together with a reduction in the requirement to protect and incise adjacent soft tissues during piezoelectric osteotomies. There was a lower incidence of postoperative haematoma and swelling following piezo-osteotomy, and a significant reduction in postoperative nerve impairment (p = 0.002). CONCLUSIONS: The ultrasonic surgical device guaranteed a clean bone cut, preserving the integrity of the adjacent soft tissues beneath the bone. Although the time required for a piezoelectric osteotomy was longer, the total operation time remained approximately the same. In conclusion, the device's lack of power appears to be a minor problem compared with the advantages, and an ultrasonic device could be considered a valuable instrument for paediatric craniofacial advancement.

Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients.

PURPOSE: Hemispherectomy and disconnective hemispherotomy are the most effective epilepsy surgical procedures for the treatment of epilepsy due to hemispheric pathologies such as Sturge-Weber syndrome, diffuse hemispheric cortical dysplasia, and posttraumatic and postischemic focal lesions. Disconnective hemispherotomy is nowadays preferred to reduce surgical morbidity in term of early and late complications (i.e., cerebral superficial hemosiderosis). Despite the number of existing technical variants conceived to further reduce the amount of brain tissue to be removed, postoperative hydrocephalus still persists and may account for an average incidence of 15-41% according to different series and reviews. A new variant of disconnective vertical hemispherotomy we termed vertical extraventricular parasagittal hemispherotomy is described aiming to further reduce the amount of removed brain tissue and so the risk of postoperative hydrocephalus in favor of a pure hemispheric disconnection. METHODS: Three patients affected by drug-resistant epilepsy due to different hemispheric pathologies (posttraumatic epilepsy, Sturge-Weber syndrome, diffuse hemispheric cortical dysplasia) were considered to be candidates for vertical extraventricular parasagittal hemispherotomy disconnective based on presurgical evaluation protocol. The oldest patient was 15 years old, the two youngest were both 2 years old. RESULTS: None of the patients experienced early and late surgical complications. After a mean follow-up of 36 months (range 12-60 months), two patients were seizure free, one relapsed seizures 18 months later. Postoperative hydrocephalus never occurred. CONCLUSION: Vertical extraventricular parasagittal hemispherotomy may be an efficacious and less invasive technique as it consists in a pure disconnection of the hemisphere with less amount of brain tissue removed and a theoretical reduced risk of postoperative hydrocephalus.

Spinal tumors in children: long-term retrospective evaluation of a series of 134 cases treated in a single unit of pediatric neurosurgery.

BACKGROUND CONTEXT: Spinal tumors in childhood are rare and heterogeneous, and their treatment is very demanding. It is necessary to both manage the disease and preserve the spinal stability so that the spine can grow normally. As a consequence, results in terms of both mortality and morbidity are often suboptimal. PURPOSE: The results of a single pediatric neurosurgery institution are reported to highlight the peculiarities and pitfalls of the management of this disease. Tumors are analyzed from the point of view of their localization, histology, and outcome in terms of mortality and morbidity, with a special focus on postoperative spinal deformity. STUDY DESIGN: The study design was retrospective. PATIENT SAMPLE: Between 1995 and 2011, 134 children (75 males and 59 females) were admitted for spinal tumors, accounting for 7.7% of all the patients admitted for central nervous system malignancies. The mean age was 8.5 years (14 days-26 years), and the mean follow-up was 28 months (3 months-13 years). OUTCOME MEASURES: Clinical and radiological outcomes were evaluated to assess mortality, morbidity, and surgical outcomes. A special interest was directed toward morbidity related to spinal deformity and neurologic deficits. METHODS: Patients were divided into four groups: intramedullary (46 patients), intradural extramedullary (25 patients), extradural (53 patients), and paravertebral tumors (10 patients). Data were obtained retrospectively from medical records and radiological archives. RESULTS: Low-grade glioma was the most common histology (14.1%). One hundred seventeen patients were surgically treated, with a total of 138 surgical procedures. A posterior approach was chosen in 111 cases, with osteoplastic laminotomy in 80. Radiotherapy was administered to 22 patients and chemotherapy to 26. At the last follow-up, 16 patients (11.9%) had died. A good control of the tumor with clinical improvement was reported in 100 patients (74.6%). Five patients developed a spinal instability (3.7%). CONCLUSIONS: The goals of surgery should be histology, spine and nerve root decompression, and preservation of spinal stability. In our experience, osteoplastic laminotomy was a good surgical approach to perform the resection of the tumor with a low risk of secondary spinal instability.

Angiocentric glioma: clinical, morphological, immunohistochemical and molecular features in three pediatric cases.

Angiocentric glioma is a rare slow growing tumor. It is associated to seizures and is mainly diagnosed in children and young adults. We describe the clinical, histo-pathological and molecular (IDH1, IDH2 and BRAFV600E mutational status) features in 3 children, 2 girls (2- and 11-years old) and 1 boy (10-years old). The tumors were located at the left temporo-parietalinsular, left parieto-occipital and left subcortical paramedian region respectively. All 3 patients were operated. Two patients are well at 2 and 16 months of follow-up while the third still suffers from seizures at 7 years of follow-up. Histologically, all tumors were composed of spindle-shaped cells showing a prominent tendency to align around the blood vessels and to grow in the subpia space creating palisade-like structures. In one case the tumoral cells were embedded in a mucoid matrix and some microcalcifications were observed. In all the cases the neoplastic cells diffusely immunostained for GFAP and S-100. Punctate dot-like intracytoplasmic staining for EMA was also observed. All tumors resulted in wild type for the mutations investigated. Owing to the rarity of angiocentric glioma, we believe that each new case should be recorded to produce a better clinical, pathological and molecular characterization of this lesion.

Endoscopic treatment of middle fossa arachnoid cysts: a series of 40 patients treated endoscopically in two centres.

PURPOSE: Middle fossa arachnoid cysts (MFAC) are a relatively common, benign pathology that pose a therapeutic challenge for both symptomatic and asymptomatic patients. The optimal surgical strategy and indication to treat are still debated by neurosurgeons. We reviewed our experience and results in a group of patients treated with endoscopic fenestration with the aim to assess indications to treat and clinical and neuroradiological results. METHODS: The data on 40 patients operated with endoscopic fenestration for MFAC in two centres, "Anna Meyer" Children's Hospital, Florence, Italy, and Royal Liverpool Children's Hospital "Alder Hey", Liverpool, UK, between 2001 and 2007 were retrospectively reviewed with prospective follow-up. We analysed clinical and neuroradiological presentation, indications to treat, surgical technique, complications, and clinical and neuroradiological follow-up. RESULTS: There were 30 males and ten females: mean age, 7.8 years; mean follow-up, 21 months. The neuronavigation system was used in 12 patients in the English cohort. Thirty-seven patients (92.5%) had a satisfactory clinical outcome. The cyst was reduced in size or completely disappeared in 29 patients (72.5%). There was no death or significant morbidity associated with the procedure. Four patients required further surgical treatment. Four patients experienced a post-traumatic intracystic bleeding after surgery. CONCLUSION: Compared to microsurgical fenestration and cyst shunting, our experience with endoscopic fenestration was as effective and safe but less invasive. Each case must be assessed with its individual characteristics to define the optimal surgical strategy. Successful treatment may not reduce the risk of post-traumatic head injury haemorrhage.

Surgical management of congenital median perisellar transsphenoidal encephaloceles with an extracranial approach: a series of 6 cases.

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Spina bifida occulta and monozygotic twins.

Central nervous system maldevelopment can have different presentations in twins. We report on a case of different presentations of spina bifida occulta in monozygotic twins. The first twin presented at birth with a lipomyelomeningocele; a tethered cord was diagnosed in the second twin at 2 years of age. Neural tube defects (NTDs) are a group of common congenital malformations of the brain and spine generated during neurulation. The genetic basis of this process is still not well known. Whenever an NTD is diagnosed in one of a pair of twins, the other twin should also be evaluated for NTDs.