A Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature.

Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB's molecular hallmark is the somatic mutation p.

A rare case of split notochord syndrome with neurenteric cyst: clinical challenges, surgical approach, and literature review.

Split notochord syndrome (SNS) is a rare congenital anomaly characterized by incomplete midline notochordal integration during gastrulation, leading to segmental clefts of the spine. This case report describes a female patient with symptomatic cervico-dorsal SNS associated with a neurenteric cyst (NEC), intrathoracic gut duplication, and secondary hydrocephalus. Multistep surgical interventions were performed, including hydrocephalus management, excision of the cyst and gut duplication, and detethering with sectioning of the filum.

Surgical Management of Chiari Malformation Type I in the Pediatric Population: A Single-Center Experience.

: Chiari malformation type 1 (CM-1) involves the cerebellar tonsils' descent below the foramen magnum. In Chiari malformation type 1.5 (CM-1.

Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis.

Objective: Cerebral cavernous malformations (CCMs) are cerebral vascular lesions that occasionally occur with seizures. We present a retrospective case series from IRCCS Gaslini Children's Hospital, a systematic review, and meta-analysis of the literature with the goal of elucidating the post-surgery seizure outcome in children with CCMs.

Methods: a retrospective review of children with cavernous malformation related epilepsy who underwent surgery at Gaslini Children's Hospital from 2005 to 2022 was conducted.

The "state of the art" of intraoperative neurophysiological monitoring: An Italian neurosurgical survey.

Introduction: Intraoperative Neurophysiological Monitoring (IOM) is widely used in neurosurgery but specific guidelines are lacking. Therefore, we can assume differences in IOM application between Neurosurgical centers.

Research Question: The section of Functional Neurosurgery of the Italian Society of Neurosurgery realized a survey aiming to obtain general data on the current practice of IOM in Italy.

Surgical limits, pitfalls, and potential solutions in kyphectomy in myelomeningocele: three cases and systematic review of the literature.

Objectives: To describe surgical treatment of 3 cases of severe and progressive thoracolumbar kyphosis in myelomeningocele and provide a systematic review of the available literature on the topic.

Methods: Medical records and pre- and post-operative imaging of 3 patients with thoracolumbar kyphosis and myelomeningocele were reviewed. A database search was performed for all manuscripts published on kyphectomy and/or surgical treatment of kyphosis in myelomeningocele.

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.

Purpose: Pathogenic variants of FIG4 generate enlarged lysosomes and neurological and developmental disorders. To identify additional genes regulating lysosomal volume, we carried out a genome-wide activation screen to detect suppression of enlarged lysosomes in FIG4 cells.

Methods: The CRISPR-a gene activation screen utilized sgRNAs from the promoters of protein-coding genes.

Rathke's cyst with xanthogranulomatous change or chronic cystic craniopharingioma? A rare case.

A 9-year-old girl presented to our neurosurgery clinic complaining of visual disturbances for a week. Magnetic resonance imaging showed an extensive sellar lesion with suprasellar involvement and compression of the optic chiasm. Based on these findings, a cystic craniopharyngioma, a pituitary macroadenoma and - less likely - a Rathke's cleft cyst were considered as differential diagnoses.

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays.

Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature.

Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients.

A case report of hemorrhagic presentation of diffuse neonatal hemangiomatosis (DNH) associated to obstructive hydrocephalus: Medical and neurosurgical considerations.

Background: Diffuse neonatal hemangiomatosis (DNH) is a rare disorder typically recognized at birth or during the neonatal period. DNH involves three or more organ systems, including the central nervous system (CNS). In these cases, serious complications such as hemorrhages and obstructive hydrocephalus can develop.

Calcification of the pump pouch in patients receiving ITB therapy: A rare complication affecting refill procedure - Analysis of two cases.

Background: Intrathecal baclofen therapy (ITB) is an effective treatment for reducing spasticity but can be associated with various complications, including infection and implant malfunction.

Methods: This retrospective cohort study analyzed refill reports, complications, and functional outcomes in 40 consecutive patients with intractable spasticity or dystonia undergoing ITB.

Results: Among the 40 patients, 8 experienced complications, including two cases of calcification of the baclofen pump pouch and surrounding tissue, a rare complication not extensively described in the literature.

Posthemorrhagic hydrocephalus management in patients with necrotizing enterocolitis: a monocentric experience.

Purpose: Posthemorrhagic hydrocephalus (PHH) and necrotizing enterocolitis (NEC) are two comorbidities associated with prematurity. The management of patients with both conditions is complex and it is necessary to intercept them to avoid meningitis and multilocular hydrocephalus.

Methods: In a single-center retrospective study, we analyzed 19 patients with NEC and PHH admitted from 2012 to 2022.

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center.

Background: Vein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes.

Objective: To describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes.

Intrasacral meningoceles: Clinical presentation, surgical management, and postoperative outcome: The Giannina Gaslini Hospital's experience.

Introduction: Intrasacral meningoceles are cysts associated with herniating arachnoid with no nerve root within due to an area of weakness of the dura mater. They are thought to be congenital, but they are usually not symptomatic until adulthood. Surgical treatment is generally indicated in the presence of symptoms.