A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature.

Li-Fraumeni syndrome (LFS) is a rare high-penetrance and autosomal-dominant pathological condition caused by the germline mutation of the TP53 gene, predisposing to the development of tumors from pediatric age. We conducted a qualitative systematic review following the ENTREQ (Enhancing Transparency in Reporting the Synthesis of Qualitative Research) framework. A search was made in MEDLINE/Pubmed and MeSH Database using the terms "Li-Fraumeni" AND "pediatric high-grade glioma (HGG)", identifying six cases of HGGs in pediatric patients with LFS. We added a further case with peculiar features such as no familiar history of LFS, association of embryonal rhabdomyosarcoma and bithalamic HGG, whose immunohistochemical profile was accurately defined by Next Generation Sequencing. Knowledge synthesis and case analysis grounded the discussion about challenges in the management of this pathology in pediatric age.

The use of neo adjuvant single-agent vinblastine for tumour shrinkage in a highly vascular paediatric low-grade glioma.

Vinblastine has shown activity as second line treatment in Low Grade Glioma (LGG) in children as well as anti-angiogenic activity in vitro.A 5 year old girl presented with 6 week history of headaches. MRI demonstrated a right temporo-parietal mass with abnormal pathological vasculature including aneurysmal vessels. Biopsy showed a pilocytic astrocytoma. Due to increased risk from surgery, first line treatment with vinblastine was given.Over 10 months, progressive reduction of tumour vascularity was demonstrated. The tumour was then surgically removed after 14 months of therapy.To our knowledge, this is the first report in which vinblastine has been successfully used in LGG to obtain tumour shrinkage prior to total tumor resection in a high vascularized LGG.

Recent technological advances in pediatric brain tumor surgery.

X-rays and ventriculograms were the first imaging modalities used to localize intracranial lesions including brain tumors as far back as the 1880s. Subsequent advances in preoperative radiological localization included computed tomography (CT; 1971) and MRI (1977). Since then, other imaging modalities have been developed for clinical application although none as pivotal as CT and MRI. Intraoperative technological advances include the microscope, which has allowed precise surgery under magnification and improved lighting, and the endoscope, which has improved the treatment of hydrocephalus and allowed biopsy and complete resection of intraventricular, pituitary and pineal region tumors through a minimally invasive approach. Neuronavigation, intraoperative MRI, CT and ultrasound have increased the ability of the neurosurgeon to perform safe and maximal tumor resection. This may be facilitated by the use of fluorescing agents, which help define the tumor margin, and intraoperative neurophysiological monitoring, which helps identify and protect eloquent brain.

Endoscopic endonasal surgery for pituitary adenomas.

BACKGROUND: Pituitary surgery is a continuous evolving specialty of the neurosurgeons' armamentarium, which requires precise anatomic knowledge, technical skills, and integrated culture of the pituitary pathophysiology. Actually it cannot be considered only from a technical standpoint, but rather a procedure resulting from the close cooperation among different specialists (e.g., ophthalmologists, neuroradiologists, endocrinologists, neurosurgeons, otorhinolaryngologists, anesthesiologists, neurophysiologists, pathologists, instrument manufacturers). METHODS: The "pure" endoscopic endonsal surgery is a procedure performed through the nose, with the endoscope alone throughout the whole approach and without any transsphenoidal retractor. The procedure consists of three main aspects: exposure of the lesion, removal of the relevant pathology, and reconstruction, going through three different steps, the nasal, the sphenoid, and the sellar phases. CONCLUSIONS: The endoscopic approach offers some advantages due to the endoscope itself: a superior close-up view of the relevant anatomy and an enlarged working angle are provided with an increased panoramic vision inside the surgical area. Concerning results in terms of mass removal, relief of clinical symptoms, cure of the underlying disease, and complication rate, these are, at least, similar to those reported in the major microsurgical series, but patient compliance is by far better. Besides the advantages to the patients, the surgeons-because of the wider and closer view of the surgical target area and the increase of the scientific activity as from the peer-reviewed literature on the topic in the past 10 years, the smoothing of interdisciplinary cooperation-, and the institutions (shorter postoperative hospital stay and increase of the case load)- the adoption of endoscopy in transsphenoidal surgery has gained a strong foothold.

Extended endoscopic endonasal transclival approach to the ventrolateral brainstem and related cisternal spaces: anatomical study.

Advances in endoscopic endonasal skull base surgery have led to the development of new routes to areas beyond the midline skull base. Recently, feasible surgical corridors to the lateral skull base have been described. The aim of this study was to describe the anatomical exposure of the ventrolateral brainstem and posterior fossa through an extended endoscopic endonasal transclival transpetrosal and transcondylar approach. Six human heads were used for the dissection process. The arterial and venous systems were injected with red- and blue-colored latex, respectively. A pre- and postoperative computed tomography (CT) scan was carried out on every head. The endoscopic endonasal transclival approach was extended through an anterior petrosectomy and a medial condylectomy. A three-dimensional model of the approach was reconstructed, using a dedicated software, from the overlapping of the pre- and post-dissection CT imaging of the specimen. An extended endoscopic transclival approach allows to gain access through an extradural anterior petrosectomy and medial condylectomy to the anterolateral surface of the brainstem and the posterior fossa. Two main intradural anatomical corridors can be described: first, between the V cranial nerve in the prepontine cistern and the VII-VIII cranial nerves in the cerebellopontine and cerebellomedullary cistern; second, between the VII-VIII cranial nerves and the IX cranial nerve, in the premedullary cistern. Extending the transclival endoscopic approach by performing an extradural anterior petrosectomy and a medial condylectomy provides a safe and wide exposure of the anterolateral brainstem with feasible surgical corridors around the main neurovascular structures.

Extended endoscopic endonasal approaches for cerebral aneurysms: anatomical, virtual reality and morphometric study.

INTRODUCTION: The purpose of the present contribution is to perform a detailed anatomic and virtual reality three-dimensional stereoscopic study in order to test the effectiveness of the extended endoscopic endonasal approaches for selected anterior and posterior circulation aneurysms. METHODS: The study was divided in two main steps: (1) simulation step, using a dedicated Virtual Reality System (Dextroscope, Volume Interactions); (2) dissection step, in which the feasibility to reach specific vascular territory via the nose was verified in the anatomical laboratory. RESULTS: Good visualization and proximal and distal vascular control of the main midline anterior and posterior circulation territory were achieved during the simulation step as well as in the dissection step (anterior communicating complex, internal carotid, ophthalmic, superior hypophyseal, posterior cerebral and posterior communicating, basilar, superior cerebellar, anterior inferior cerebellar, vertebral, and posterior inferior cerebellar arteries). CONCLUSION: The present contribution is intended as strictly anatomic study in which we highlighted some specific anterior and posterior circulation aneurysms that can be reached via the nose. For clinical applications of these approaches, some relevant complications, mainly related to the endonasal route, such as proximal and distal vascular control, major arterial bleeding, postoperative cerebrospinal fluid leak, and olfactory disturbances must be considered.

Presentation, pathology, and treatment outcome of brain tumors in 172 consecutive children at CURE Children's Hospital of Uganda. The predominance of the visible diagnosis and the uncertainties of epidemiology in sub-Saharan Africa.

OBJECT: This study reviews the first operative series of pediatric brain tumors from Uganda, the largest series from Sub-Saharan Africa, and explores the challenges to progress in pediatric neuro-oncology in the region. METHODS: This is a retrospective operative series of brain tumors in 172 children at Cure Children's Hospital of Uganda over 10 years. Demographics, clinical presentation, lesion location, histopathology, operative management, and outcome were investigated. Survival was assessed using Kaplan-Meier method. Log-rank test and p value with Bonferroni correction were used to determine significance of survival differences. RESULTS: There were 103 males (59.9 %) and 69 females (40.1 %; mean age at diagnosis 6.5 years with 29 % < 2 years). The most common histologic types were pilocytic astrocytoma (23.2 %), ependymoma (16.3 %), craniopharyngioma (9.9 %), choroid plexus papilloma (9.3 %), and medulloblastoma (8.1 %). Supratentorial tumors (62.2 %) were more common. Symptomatic hydrocephalus predominated at presentation (66.9 %). In 71 (41.3 %), the presentation was macrocephaly or a visible mass. Estimated 5-year survival was 60 %. CONCLUSIONS: The majority of pediatric brain tumors in the region likely go unrecognized. Most that do come to attention have a "visible diagnosis." Unlike operative series from developed countries, information about the incidence, prevalence, and overall burden of disease for different tumor types cannot be deduced from the various operative series reported from limited resource countries because of the selection bias that is unique to this context. Delayed presentation and poor access to adjuvant therapies were important contributors to the high mortality. The epidemiology of pediatric brain tumors in sub-Saharan Africa is obscure.

Indication for endoscopic third ventriculostomy.

BACKGROUND: Endoscopic third ventriculostomy (ETV) is increasingly prevalent among pediatric neurosurgeons as the initial treatment for hydrocephalus. The combination of ETV and choroid plexus cauterization (ETV/CPC) has improved the success rate among infants with hydrocephalus for whom ETV alone is much less successful. In parts of the developing world where there are economic and human resource constraints, this mode of treatment may be more appropriate than the routine use of shunts, which are prone to failures that require urgent surgical treatment. Here we review indications for the use of ETV or ETV/CPC as the primary treatment for hydrocephalus. CONCLUSION: Primary treatment of hydrocephalus by ETV can avoid shunt-dependence and its complications for many patients. Optimal results depend upon proper patient selection and the use of combined ETV/CPC when treating infants.

Management of hydrocephalus around the world.

OBJECTIVE: The objective of this study is to review the management of hydrocephalus and, in particular, how different economic and social conditions affect its treatment around the world. METHODS: The main techniques for the surgical treatment and the management of hydrocephalus have been retraced through a brief historical overview up to the present day. RESULTS: During the last century, continuous technological progress has favored the diffusion of expensive and sophisticated shunt systems. On the other hand, the advent of minimally invasive endoscopic techniques, such as endoscopic third ventriculostomy, seems to represent a valid route for attempting a natural cerebrospinal fluid diversion, thus avoiding complications related to shunt failure. CONCLUSIONS: The management of hydrocephalus around the world is still widely debated. However, definition of proper indications and adequate training in neuroendoscopic techniques seem to represent the preeminent trend for new generations of neurosurgeons.

Purely endoscopic repair of traumatic cerebrospinal fluid rhinorrhea from the anterior skull base: case report.

A 38-year-old woman presented with a case of post-traumatic ethmoidal cerebrospinal fluid (CSF) leak that was repaired using a purely endoscopic endonasal approach. Six weeks after a mild domestic maxillofacial trauma, she started complaining of clear, watery discharge from the left nostril and headache. Neuroimaging investigations disclosed a linear fracture of the left anterior ethmoidal roof without evidence of large bony breaches or any brain tissue damage. After conservative medical treatment with carbonic anhydrase inhibitors failed, she was referred to our hospital for surgical repair of the osteodural defect. An endoscopic endonasal transethmoidal approach was successfully performed, and an overlay technique was used to reconstruct the defect. The patient was discharged without clinical evidence of CSF rhinorrhea and no leaks were apparent at the 3-month follow-up clinical and radiological examinations. Post-traumatic CSF rhinorrhea occurs in cases of dural tears associated with small bone breaks, most frequently involving the anterior skull base. Recovery is often spontaneous following only bed rest, or with medical treatments such as inhibitors of carbonic anhydrase diuretics, steroids, or eventually stool softeners to help reduce CSF pressure. Surgical repair is required when first-line conservative treatment proves ineffective. The present case shows that the endoscopic endonasal technique for the management of CSF leaks provides a less invasive surgical route to achieve valid dural repair.

Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children.

OBJECT: This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent. The authors explored survival, the efficacy of primary endoscopic management of associated hydrocephalus, and ethnic differences in EC location. METHODS: One hundred ten consecutive children presented to CURE Children's Hospital of Uganda for treatment of EC over a 9-year period. Clinical data, including patient demographic information, birth date, lesion type (sincipital, parietal, or occipital), operative data, and subsequent course had been entered prospectively into a clinical database. Home visits to update the status of those lost to follow-up were done when possible. With appropriate institutional approvals, the database was reviewed for this retrospective study. Two-tailed probability values calculated using the Fisher exact test were used to assess the significance of differences among groups, with p < 0.05 being considered significant. The Kaplan-Meier method was used for analysis of survival and treatment success probabilities. RESULTS: There were 53 (48%) occipital, 33 (30%) sincipital, and 24 (22%) parietal lesions. Occipital lesions were significantly more common among children of Bantu origin (p = 0.02). Nilotes demonstrated a roughly equal distribution among sincipital, parietal, and occipital locations. The female/male ratio was 1.2, with no difference between EC types (range 1.0-1.4, p = 0.6-0.8). Of 110 patients, 108 (98%) underwent surgical repair at a median age of 1 month (mean 15.7 months), whereas 2 had treatment for hydrocephalus only. Wound revision was required in 13% of cases. Surgery-related mortality was 3%. One-year and 5-year survival rates were 87% (95% CI 0.79-0.93) and 61% (95% CI 0.51-0.70), respectively. Hydrocephalus required treatment in 32%, and was equally common among the 3 EC types. Thirteen patients were treated with combined endoscopic third ventriculostomy/choroid plexus cauterization (ETV/CPC) and 2 with ETV alone, whereas 18 patients received primary shunt placement. Predicted treatment success at 1 year was 79% for ETV or ETV/CPC (95% CI 0.50-0.94) and 47% for shunt placement (95% CI 0.24-0.71). CONCLUSIONS: Analysis of this first EC series from this region suggests that sincipital lesions are 3 times more common in East than in West Africa. Occipital lesions predominate in patients of Bantu origin, but not among those of Nilotic descent. Hydrocephalus incidence was equally common among different EC types, and endoscopic treatment was more successful (79%) than shunting (47%) at 1 year. The 5-year mortality rate was similar to that for infants with myelomeningocele in Uganda, and more than twice that for their unaffected peers.

Extended endoscopic endonasal approach for selected pituitary adenomas: early experience.

OBJECT: Whereas most pituitary adenomas are removable via the transsphenoidal approach, certain cases, such as dumbbell-shaped or suprasellar adenomas and recurrent and/or fibrous tumors, remain difficult to treat. The authors present their experience with the extended endoscopic endonasal approach to the suprasellar area in managing this subset of tumors, which are classically treated through a transcranial route. METHODS: From June 1997 to December 2008, 615 patients underwent endoscopic endonasal transsphenoidal surgery for pituitary adenomas in the Department of Neurosurgery of the Università degli Studi di Napoli Federico II. Of this group, 20 patients with pituitary adenomas needed an extended endoscopic endonasal transtuberculum/transplanum approach for tumor removal. Two surgical corridors were used during the transsphenoidal approach: 1) the conventional endosellar extraarachnoidal corridor and 2) a suprasellar transarachnoidal corridor. RESULTS: The extent of resection was gross total in 12 (60%) of the 20 patients, near total in 4 (20%), subtotal in 3 (15%), and partial in 1 (5%). Postoperative CSF leakage occurred in 1 patient. One patient experienced worsening of temporal hemianopsia. CONCLUSIONS: The authors' initial results with the extended endoscopic approach to the suprasellar area for selected pituitary adenomas are promising and may justify a widening of the current classical indications for transsphenoidal surgery.

Chronic inflammation causing spinal cord compression in human immunodeficiency virus infection.

BACKGROUND: The incidence of central nervous system involvement has increased in the setting of acquired immune deficiency syndrome (AIDS). Although rarely reported, spinal cord compression, in the setting of AIDS, has been associated with primary lymphoma or opportunistic infections. CASE REPORT: The authors describe the case of a young man who was admitted to our institution with rapid and progressive paraplegia. Imaging studies revealed an extramedullary lesion compressing the spinal cord spanning 3 thoracic levels. Surgical treatment was performed, and the compressing process completely excised. Histologic examination of the lesion showed a chronic inflammatory tissue with many necrotic areas without signs of infection or lymphoma. The patient progressively regained normal strength in his legs and was discharged home. CONCLUSIONS: In patients with HIV, chronic inflammation can lead to a lesion that compresses the spinal cord and should be considered in the differential diagnosis. Knowledge of this entity gains importance with the increasing incidence of HIV because timely excision can restore neurologic deficits. This condition may be considered a new clinical entity, the true incidence of which will be established using the diagnostic protocols provided and further case reports.