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OBJECTIVE The objective of this study was to describe the clinical and neuroradiological characteristics of a cohort of preterm infants who had undergone external ventricular drain insertion as a temporary measure to treat posthemorrhagic ventricular dilatation. In addition, the authors investigated the factors predicting permanent shunt dependency. METHODS The authors retrospectively reviewed the medical records of a cohort of preterm infants who had undergone external ventricular drain insertion at Gaslini Children’s Hospital (Genoa, Italy) between March 2012 and February 2018. They also analyzed clinical characteristics and magnetic resonance imaging data, including diffusion- and susceptibility-weighted imaging studies, which were obtained before both catheter insertion and removal. RESULTS Twenty-eight infants were included in the study. The mean gestational age was 28.2 ± 2.7 weeks, and the mean birth weight was 1209 ± 476 g. A permanent ventriculoperitoneal shunt was inserted in 15/28 (53.6%) infants because of the failure of external ventricular drainage as a temporary treatment option. Compared with the shunt-free group, the shunt-dependent group had a significantly lower gestational age (29.3 ± 2.3 vs 27.2 ± 2.7 weeks, p = 0.035) and tended toward a lower birth weight (p = 0.056). None of the clinical and neuroradiological characteristics significantly differed between the shunt-free and shunt-dependent groups at the time of catheter insertion. As expected, ventricular parameters as well as the intraventricular extension of intracerebral hemorrhage, as assessed using the intraventricular hemorrhage score, were reportedly higher in the shunt-dependent group than in the shunt-free group before catheter removal. CONCLUSIONS External ventricular drainage is a reliable first-line treatment for posthemorrhagic hydrocephalus. However, predicting its efficacy as a unique treatment remains challenging. A lower gestational age is associated with a higher risk of posthemorrhagic hydrocephalus progression, suggesting that the more undeveloped the mechanisms for the clearance of blood degradation products, the greater the risk of requiring permanent cerebrospinal fluid diversion, although sophisticated MRI investigations are currently unable to corroborate this hypothesis.

Background Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or neurenteric cyst, anterior meningocele or hamartoma. Females are more frequently affected and usually present with associated gynecologic and urinary tract problems. CS is considered an autosomal dominant trait, with reduced penetrance and variable expressivity. CS is associated with mutations in the MNX1 gene (motor neuron and pancreas homeobox-1, previously known as HLXB9) mapped to chromosome 7q36. Heterozygous loss-of-function mutations in the coding sequence of MNX1 gene have been reported in nearly all familial CS cases and in approximately 30% of CS sporadic patients. Case Here, we present the case of a woman with features of CS carrying a mosaic mutation in the coding region of MNX1 gene. This is the only reported case of a CS diagnosis in which the mutation is present in less than 50% of cells. Conclusion The lower detection rate of MNX1 mutations in sporadic cases could similarly be explained by somatic mosaicism, mutations occurring outside the coding regions, or genetic heterogeneity.

Introduction Arachnoid cysts are benign cerebrospinal fluid collection within a duplication of arachnoid membrane and, when found in the retrocerebellar site, they may be associated with tonsils herniation. This rare situation of coexisting retrocerebellar arachnoid cyst (AC) and Chiari malformation type 1 (CM-1) have been previously reported in few cases (10 patients) with syringomyelia and hydrocephalus described to be the most relevant issues. The aim of this paper is to describe 3 pediatric cases of this condition with a systematic review of the literature, underlining the importance of surgical management tailored to the pathogenic mechanism. Methods A restrospective analysis of patients treated for coexisting CM-1 and ACs at the authors' institution has been carried out. Results A case of a 10-month-old baby with coexisting AC and CM-1 with tri-ventricular hydrocephalus treated with endoscopic third ventriculostomy, a case of a 1-year-old child with a huge retrocerebellar AC and CM-1 treated with a cysto-peritoneal shunt, and a case of a 15-year-old child with retrocerebellar AC causing symptomatic CM-1 treated with C0-C2 decompression, AC fenestration and duraplasty are described. A long-term follow-up is reported. Conclusions Surgical management of coexisting ACs and CM-1 should not aim at the complete resolution of the cyst or of tonsil herniation, especially when pediatric patients are treated. Rather, the purpose of the neurosurgeon should be to understand the underlying pathogenic mechanism, and then restoring both the cerebrospinal fluid flow in the posterior fossa and the dynamic equilibrium between ventricles, cyst, and subarachnoid space.

Background Coronavirus disease-2019 (COVID-19) pandemic had a great impact over all elective neurosurgical activity and important implications in management of neurosurgical urgencies. During the pandemic, some pediatric hospitals reported their experiences. After the emergency phase of the COVID-19 pandemic, the health care system needs to be reorganized to again manage all nonurgent activities, while ensuring safety of both patients and health care workers. Methods We developed preventive measures to limit any possibility of COVID-19 spread, according to the principles of epidemiologic prevention and suggestions from recent literature. To evaluate the efficacy of these measures, we retrospectively reviewed the neurosurgical activity at our institution from May 4 to July 15, 2020. Results One hundred nineteen patients were admitted to the neurosurgical ward, and 80 surgical procedures were performed. Furthermore, 130 outpatient clinics were scheduled. A total of 258 nasopharyngeal swabs and 249 specific interviews were performed. In our series, no cases of positivity for severe acute respiratory syndrome coronavirus-2 infection were found, and no surgical cases were postponed. Discussion We present the management of the neurosurgical activity after the emergency phase at the Neurosurgical Department of Giannina Gaslini Children's Hospital in Genoa, Italy. Conclusions The Italian health care system is undertaking a process of reorganization of resources, in an attempt to restore all nonurgent activities while ensuring safety. After the emergency phase, we are learning to live together with COVID-19 and, although epidemiologic data are encouraging, we must be prepared for an eventual second peak.

The clinical and radiological spectrum of spondylocostal dysostosis syndromes encompasses distinctive costo-vertebral anomalies. RIPPLY2 biallelic pathogenic variants were described in two distinct cervical spine malformation syndromes: Klippel–Feil syndrome and posterior cervical spine malformation. RIPPLY2 is involved in the determination of rostro-caudal polarity and somite patterning during development. To date, only four cases have been reported. The current report aims at further delineating the posterior malformation in three new patients. Three patients from two unrelated families underwent clinical and radiological examination through X-ray, 3D computed tomography and brain magnetic resonance imaging. After informed consent was obtained, family-based whole exome sequencing (WES) was performed. Complex vertebral segmentation defects in the cervico-thoracic spine were observed in all patients. WES led to the identification of the homozygous splicing variant c.240-4T>G in all subjects. This variant is predicted to result in aberrant splicing of Exon 4. The current report highlights a subtype of cervical spine malformation with major atlo-axoidal malformation compromising spinal cord integrity. This distinctive mutation-specific pattern of malformation differs from Klippel–Feil syndrome and broadens the current classification, defining a sub-type of RIPPLY2-related skeletal disorder. Of note, the phenotype of one patient overlaps with oculo-auriculo-vertebral spectrum disorder.

The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of hypotonia in early infancy through a retrospective analysis of 197 infants who underwent muscle biopsy in their first 18 months of life. Data analysis revealed that 92/197 (46.7%) of muscle biopsies were non-specific (80) or normal (12), not allowing a specific diagnosis. In 41/197 (20.8%) cases, biopsy suggested a metabolic or mitochondrial myopathy, while in 23/197 cases (11.7%), we found evidence of muscular dystrophy. In 19/197 cases (9.7%), histopathology characteristics of a congenital myopathy were reported. In 22/197 cases (11.7%), the histopathological study indicated presence of a neurogenic damage. Overall, 46 diagnoses were then achieved by oriented genetic tests. Muscle biopsy results were consistent with genetic results in 90% of cases. Diagnostic algorithms for the diagnosis of a floppy infant are largely missing. Muscle biopsy alone can lead to a diagnosis, help the clinician in the choice of a genetic test, or even modify a diagnosis made previously.

INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb anomalies (L). For the clinical diagnosis the presence of at least three CFs is required, individuals presenting with only two CFs have been categorized as VATER/VACTERL-like. The majority of VATER/VACTERL individuals displays a renal phenotype. Hitherto, variants in FGF8, FOXF1, HOXD13, LPP, TRAP1, PTEN and ZIC3 have been associated with the VATER/VACTERL association; however, large-scale re-sequencing could only confirm TRAP1 and ZIC3 as VATER/VACTERL disease genes, both associated with a renal phenotype. METHODS: In this study, we performed exome sequencing in 21 individuals and their families with a renal VATER/VACTERL or VATER/VACTERL-like phenotype to identify potentially novel genetic causes. RESULTS: Exome analysis identified biallelic and X-chromosomal hemizygous potentially pathogenic variants in six individuals (29%) in B9D1, FREM1, ZNF157, SP8, ACOT9, and TTLL11, respectively. The online tool GeneMatcher revealed another individual with a variant in ZNF157. CONCLUSION: Our study suggests six biallelic and X-chromosomal hemizygous VATER/VACTERL disease gene implicating all six genes in the expression of human renal malformations.

Cerebellar tonsil herniation comprises a spectrum of disorders sharing a common neuroimaging finding consisting of downward displacement of the cerebellar tonsils through the foramen magnum and into the upper cervical spinal canal. This not uncommon condition may result from a large host of congenital or acquired causes, and confusion regarding its classification and pathogenesis still exists. Terminology also remains heterogeneous, including inconsistencies in the usage of the "Chiari 1" monicker. In this paper, the hypothesized mechanisms of development of tonsillar herniation are reviewed and strategies of management are discussed, with particular attention to surgical options adapted to the underlying etiology. A focus will be placed on acquired causes of tonsillar herniation.

Background Nontraumatic atlantoaxial subluxation, also known as Grisel syndrome, is a rare disease that usually affects children. The typical presentation is torticollis in patients with a history of surgical operations or airway infections. Methods We describe 5 patients with Grisel syndrome, referring to medical care for a torticollis, a few weeks after an airway infection, with no trauma associated. Radiologic confirmation of the diagnosis, with computed tomography and magnetic resonance imaging studies, was carried out. Results The patients were treated with external immobilization for 3 months, followed by surgical fixation in the case of recurrence after collar removal or inveterate subluxation. We performed a review of the literature to define the best management of this disease. Conclusions Management of Grisel syndrome depends on the degree of subluxation basing on the Fielding and Hawkins classification. The initial nonsurgical management consists of close reduction and immobilization. Surgical fixation is indicated in cases of conservative treatment failure.

Magnetic resonance-guided laser interstitial thermal therapy (MR-gLiTT) is a novel minimally invasive treatment approach for drug-resistant focal epilepsy and brain tumors. Using thermal ablation induced by a laser diode implanted intracranially in a stereotactic manner, the technique is highly effective and safe, reducing the risk associated with more traditional open surgical approaches that could lead to increased neurological morbidity. Indications for MR-gLiTT in pediatric epilepsy surgery include hypothalamic hamartoma, tuberous sclerosis complex, cavernoma-related epilepsy, SEEG-guided seizure onset zone ablation, corpus callosotomy, periventricular nodular heterotopia, mesial temporal lobe epilepsy, and insular epilepsy. We review the available literature on the topic and present our series of patients with drug-resistant epilepsy treated by MR-gLiTT. Our experience, represented by six cases of hypothalamic hamartomas, one case of tuberous sclerosis, and one case of dysembryoplastic neuroepithelial tumor, helps to confirm that MR-gLiTT is a highly safe and effective procedure for several epilepsy conditions in children.

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including 235 pediatric patients. Genetic testing was performed through cDNA-based sequencing, Next Generation Sequencing (NGS), and Multiplex Ligation-dependent Probe Amplification (MLPA). Uni- and multivariate statistical analysis was used to investigate genotype–phenotype correlations. Among patients fulfilling ≥ 2 NIH criteria, causative single nucleotide variants (SNVs) and copy number variations (CNVs) were detected in 267/365 (73.2%) and 20/365 (5.5%) cases. Missense variants negatively correlated with neurofibromas (p = 0.005). Skeletal abnormalities were associated with whole gene deletions (p = 0.05) and frameshift variants (p = 0.006). The c.3721C&gt, T, p.(R1241*) variant positively correlated with structural brain alterations (p = 0.031), whereas Lisch nodules (p = 0.05) and endocrinological disorders (p = 0.043) were associated with the c.6855C&gt, A, p.(Y2285*) variant. We identified novel NF1 genotype–phenotype correlations and provided an overview of known associations, supporting their potential relevance in the implementation of patient management.

Background Post varicella angiopathy (PVA) is an underdiagnosed but potentially severe disease in both pediatric and adult settings. No guidelines are available for the medical and neurosurgical management of this condition. We report the first pediatric case with headache and PVA who was treated with surgical revascularization before the onset of ischemic events. Methods This case report was conducted via retrospective chart review. A literature review was also completed, in order to identify previously described PVA undergone to revascularization. Results We report on a 9-year-old boy presenting with a long history of headache and PVA involving the distal left middle cerebral artery. The arterial lesion rapidly worsened over a 10 months’ period with formation of focal moyamoya-like collaterals, despite an adequate intravenous antiviral treatment. The pattern of headaches significantly changed with a clear left-side lateralization and a “re-build-up” phenomenon on EEG. The patient was treated with left superficial temporal artery - middle cerebral artery (STA-MCA) bypass and encephalo-duro-arterio-myo-pericranial-synangiosis. This combined treatment resulted in an immediate and persistent improvement of brain perfusion, accompanied by prompt resolution of neurological symptoms. Two cases who presented with Suzuki stage III (unilateral or bilateral) moyamoya PVA and recurrent strokes or transient ischemic attacks despite adequate pharmacological prophylaxis have been surgically treated using both indirect and direct revascularization technique. The outcome was good in both cases. Conclusion Surgical revascularization may have a role in the treatment of PVA and may prevent stroke. Given the lack of standardized treatment algorithms, individualized regimens should be formulated on a case-specific basis.

Background Various strategies have been proposed for the treatment of gelastic seizures due to hypothalamic hamartomas (HH), advancing from surgical removal techniques toward functional disconnection strategies. One of the most recent procedure is the Magnetic Resonance guided Laser Interstitial Thermal Therapy (MRg-LITT), which has progressively proved to be a safe and effective technique for hamartomas ablation. In this paper, the authors' preliminary experience with the first two patients treated with this technique in Italy is presented, in order to underline the feasibility of a pure non robotized frameless technique (FS MRg-LITT) while confirming the procedure effectiveness on seizure control. Methods Patients undergoing FS MRg-LITT for the treatment of HH related gelastic seizures since January 2020 were included. A two steps procedure was performed by using the neuronavigation system to define the entry point, the trajectories and to assess the accuracy. Visualase Laser Ablation System was then used for the MR guided ablation of the HH. A multidisciplinary (neurosurgeons, epileptologist, neuroradiologist) institutional board evaluated the patients both in the perioperative period and during follow up. Results A total number of 2 pediatric patients were described. The mean operative time resulted to be 6 hours while the mean accuracy was 0.4 mm. No peri-operative complications were reported. The mean length of stay was 4 days. Lastly, at 1-year follow up both patients resulted to be seizure free and endocrinological functions were preserved. Conclusions FS MRg-LITT for the treatment of HH-related epilepsy could represent an effective technique, being able to guarantee adequate level of accuracy and potentially extending the accessibility of MRg-LITT by lowering its costs and simplifying the overall procedure.

Morning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Here, we describe the case of a 11-year-old boy with morning glory disc anomaly, transsphenoidal cephalocele, and moyamoya vasculopathy, who underwent bilateral indirect revascularization with encephalo-duro-myo-arterio-pericranio-synangiosis at the age of 2 years, and endoscopic repair of the transsphenoidal cephalocele at the age of 6 years. A rare missense variant (c.1081T>C,p.Tyr361His) was found in OFD1, a gene responsible for a X-linked ciliopathy, the oral-facial-digital syndrome type 1 (OFD1; OMIM 311200). This case expands the complex phenotype of OFD1 syndrome and suggests a possible involvement of OFD1 gene and Shh pathway in the pathogenesis of these anomalies.

Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in children and adolescents. Survivors of severe TBI are more prone to functional deficits, resulting in poorer school performance, poor health-related quality of life (HRQoL), and increased risk of mental health problems. Critical gaps in knowledge of pathophysiological differences between children and adults concerning TBI outcomes, the paucity of pediatric trials and prognostic models and the uncertain extrapolation of adult data to pediatrics pose significant challenges and demand global efforts. Here, we explore the clinical and research unmet needs focusing on severe pediatric TBI to identify best practices in pathways of care and optimize both inpatient and outpatient management of children following TBI.

We describe a rare case of functioning gonadotropins-producing pediatric adenoma immunostaining positively for FSH and focally for TSH causing central precocious puberty associated to central hypothyroidism in a 6 year-old girl.Clinical evaluation revealed precocious puberty, as confirmed by hormonal determination with elevated FSH and estradiol, while central hypothyroidism was biochemically diagnosed by a low fT4 and normal TSH. Head MRI showed the presence of a hyperintense pituitary lesion. The patient successfully underwent transsphenoidal endoscopic resection of the pituitary macroadenoma.Pathologic evaluation of the tissue resected at surgery confirmed the diagnosis of pituitary adenoma with positive immunohistochemistry for FSH and focally for TSH in a mixed pattern. Ten months after surgery, there were no neurological signs and symptoms. Postoperative head MRI showed no abnormalities and no evidence of tumor regrowth.Early and accurate diagnosis, multidisciplinary approach and close follow up are crucial factors for the favorable outcome.

Moyamoya vasculopathy is a rare chronic cerebrovascular disorder characterized by the stenosis of the terminal branches of the internal carotid arteries and the proximal tracts of anterior and middle cerebral arteries. Although surgical revascularization does not significantly change the underlying pathogenic mechanisms, it plays a pivotal role in the management of affected individuals, allowing to decrease the risk of ischemic and hemorrhagic complications. Surgical approaches may be direct (extracranial-intracranial bypass), indirect, or a combination of the two. Several indirect techniques classifiable according to the tissue (muscle, periosteum, galea, dura mater, and extracranial tissues) or vessel (artery) used as a source of blood supply are currently available. In this study, we reviewed the pertinent literature and analyzed the advantages, disadvantages, and pitfalls of the most relevant indirect revascularization techniques. We discussed the technical aspects and the therapeutical implications of each procedure, providing a current state-of-the-art overview on the limits and pitfalls of indirect revascularization in the treatment of moyamoya vasculopathy.

Introduction: Moyamoya disease is a steno-occlusive cerebrovascular disease of unknown etiology involving the terminal portion of the internal carotid artery and the proximal portions of the anterior and middle cerebral arteries with associated collateral vascular network. When the vascular pattern is associated with a particular condition (e.g., Type 1 neurofibromatosis, Down syndrome), it is defined as moyamoya syndrome (MMS) (or quasi-moyamoya). Among different indirect bypass techniques used to prevent ischemic injury by increasing collateral blood flow to hypoperfused areas of the cortex, multiple burr holes technique is an easy and diffuse indirect revascularization approach in the treatment of moyamoya. Discussion: While the effectiveness in patients with moyamoya disease was demonstrated, its role in MMS remains uncertain. In this study, we describe surgical and diagnostic implications in three pediatric cases of moyamoya sydrome unsuccessfully treated with multiple cranial burr hole technique. A critical review of the literature about the use of the surgical indirect revascularization techniques in pediatric patients was also reported.

PURPOSE: The aim of this study was to compare arterial spin labeling (ASL) and dynamic susceptibility contrast (DSC) MRI perfusion with respect to diagnostic performance in tumor grading in pediatric patients with low- and high-grade astrocytic tumors (AT). METHODS: We retrospectively analyzed 37 children with histologically proven treatment naive low- and high-grade AT who underwent concomitant pre-operative ASL and DSC MRI perfusion. Studies were performed on a 1.5 T scanner, and a pulsed technique was used for ASL. DSC data were post-processed with a leakage correction software. Normalization of tumor perfusion parameters was performed with contralateral normal appearing gray matter. Normalized cerebral blood volume (nCBV) values in the most perfused area of each neoplasm were compared with normalized DSC-derived cerebral blood flow (nDSC-CBF) and ASL-derived cerebral blood flow (nASL-CBF) data, and correlated with WHO tumor grade. Statistics included Pearson's chi-square and Mann-Whitney U tests, Spearman's rank correlation, and receiver operating characteristic (ROC) analysis. RESULTS: A significant correlation was demonstrated between DSC and ASL data (p

Arachnoid cysts may present with symptoms deriving from cyst rupture, usually causing intracystic hemorrhage and subdural hematoma or hygroma. Rupture is usually caused by minor trauma, spontaneous rupture is an exceptional event, and 57 cases have been described in literature. We here present and discuss the largest series of spontaneously ruptured middle fossa arachnoid cysts in order to investigate clinical presentation and best treatment available. We report a retrospective series of 17 pediatric patients surgically treated for middle fossa arachnoid cyst with signs of cyst rupture without a history of trauma in the previous 90 days. We describe clinical presentation, treatment, and outcome at follow-up discussing our results with a literature review including all reported cases of spontaneous rupture of middle fossa arachnoid cysts. In our experience patients most frequently presented with subdural hygroma, in literature, a chronic hematoma was most frequently reported. Headache is the most reported symptom at presentation. Neurological deficits and consciousness alterations are rare. Surgical treatment may resolve brain compression only or reduce rupture recurrence risk. Conservative treatment has also been proposed. Different treatments are reported and discussed focusing on indications, contraindications, risks, and expected benefits. We propose, when safely possible, microsurgical cyst fenestration in skull base cisterns as the treatment of choice for these patients as long as it addresses both immediate decompression and risk of rupture recurrence. We report good outcomes and low incidence of complications from our series with a mean postoperative follow-up of 30 months.

To evaluate the contribution of 18F-dihydroxyphenylalanine (DOPA) PET in association with conventional MRI in predicting treatment response and survival outcome of pediatric patients with diffuse intrinsic pontine gliomas (DIPGs). Methods: We retrospectively analyzed 19 children with newly diagnosed DIPGs who underwent 18F-DOPA PET/CT and conventional MRI within one week of each other at admission and subsequent MRI follow-up. Following co-registration and fusion of PET and MRI, 18F-DOPA uptake avidity and extent (PET tumor volume and uniformity) at admission, along with MRI indices including presence of ring contrast-enhancement, tumor volume at admission and at maximum response following first-line treatment, were evaluated and correlated with overall survival (OS). The association between 18F-DOPA uptake tumor volume at admission and MRI tumor volume following treatment was evaluated. Statistics included Wilcoxon signed-rank and Mann-Whitney U tests, Kaplan-Meier OS curve and Cox analysis. Results: DIPGs with a 18F-DOPA uptake Tumor/Striatum (T/S) ratio >1 presented an OS ≤ 12 months and lower degree of tumor volume reduction following treatment (p = 0.001). On multivariate analysis, T/S (p = 0.001), ring enhancement (p = 0.01) and the degree of MRI tumor volume reduction (p = 0.01) independently correlated with OS. In all patients, areas of increased 18F-DOPA uptake overlapped with regions demonstrating more prominent residual components/lack of response following treatment. Conclusions: 18F-DOPA PET provides useful information for evaluating the metabolism of DIPGs. T/S ratio is an independent predictor of outcome. 18F-DOPA uptake extent delineates tumoral regions with a more aggressive biological behaviour, less sensitive to first line treatment.

Background Over the last decades, significant advancements have been achieved in the treatment of pediatric brain tumors as a result of radiation therapy (RT). With the increasing diffusion of this treatment, iatrogenic damage to cerebrovascular tissues contouring the radiation target volume has become the subject of debate, especially radiation-induced moyamoya syndrome (RIMS). Methods A systematic literature search was performed on the association between moyamoya vasculopathy and cranial irradiation in children. Large case series of patients with moyamoya were analyzed and clinicoradiologic data were collected reviewing pediatric patients treated with RT for primary brain tumors at our institution. Results The risk of developing RIMS is higher in younger children, in patients with optic pathway glioma, and in those receiving higher radiation doses. Headache is the most common presenting symptom and cerebral infarction is frequent. The preferred surgical techniques were pial synangiosis and encephaloduroarteriosynangiosis. In our case series, surgical revascularization led to neovascularization, with clinical improvement or stability in all patients. Medical therapy did not significantly affect the clinical course. Conclusions Pediatric patients receiving involved field RT for the treatment of brain tumors have an increased risk of developing RIMS. Prompt diagnosis and early surgical revascularization play a pivotal role in decreasing the clinical impact of this complication. The use of new techniques, such as the intensity-modulated RT, and the increasing dose saving for the organs at risk, are essential to prevent iatrogenic vasculopathy. The combination of appropriate medical therapy and surgery will improve patient management and clinical outcome.

Describe presentation and management of Chiari type 1 malformation. We report our surgical case series proposing a decision making scheme for helping surgeons decide which surgical procedure to perform and when. We retrospectively examined a series of surgically treated patients with Chiari type 1 malformation. Treatment of associated anomalies, surgical complications, and need for reintervention for insufficient decompression at first surgery are discussed. A total of 172 patients have been surgically treated for Chiari type 1 malformation at the Neurosurgery Unit of IRCCS Giannina Gaslini Children Hospital of Genoa, Italy, in a period between 2006 and 2017. The first treatment addressing Chiari type 1 malformation was bone and ligamentous decompression alone in 104 patients (65%), associated with dural delamination in 3 patients (1.9%) and associated with duraplasty with autologous graft in 53 patients (33.1%). Postoperative complications occurred in 5 patients (2.9%). Reintervention for insufficient decompression at follow-up was needed in 6 patients (3.5%). Surgical decompression of the posterior cranial fossa (PCF) is indicated in symptomatic patients while asymptomatic patients must be followed in a wait and see fashion. Different types of surgical decompression of different invasiveness have been proposed from only bone and ligamentous decompression to coagulation of cerebellar tonsils. Intraoperative ultrasonography is a useful tool to define when a decompression is sufficient. We did not find correlation between the need for reintervention for insufficient decompression and different invasiveness of the techniques. We believe that this finding suggests that our proposed scheme leads to the best tailored treatment for the single patient.

INTRODUCTION CNS germinoma, being marker-negative, are diagnosed by surgical biopsy. Here we evaluate the perioperative status and postoperative complications of patients with pineal germinoma who underwent a primary biopsy or resection, treated according to SIOP CNS GCT 96. METHODS 235 patients with histologically confirmed germinoma were registered, of which 113 were pineal: 55 were biopsied and 58 underwent primary resection. Initial symptoms, tumour size, complications and neurological status were assessed. 111 patients were evaluable. RESULTS Pure germinoma was present in 101 patients; 10 had additional teratoma components. The main clinical symptoms at diagnosis were headache (n=98), hydrocephalus (n=93), double vision (n=62), Parinaud syndrome (n=57) and papilloedema (n=44). Tumour size was documented in 81 patients (50%, 26 subtotal resection CONCLUSION Although surgical techniques have improved within recent decades, these results support the practice of biopsy over resection for histological confirmation of germinoma arising at the pineal site. Supported in part by German Cancer Aid.

Background Bilateral lambdoid and posterior sagittal synostosis is a rarely encountered multisutural craniosynostosis accounting for 0.3%−0.7% of all craniosynostoses. It has been named “Mercedes−Benz Syndrome” (MBS) because of the bone ridges that resemble the Mercedes−Benz logo. The typical head shape is usually described as anterior turricephaly combined with mild brachycephaly. We describe a case of pure MBS without involvement of other sutures. Since we believe that MBS is a different pathology when other sutures are involved, we will discuss our case with a review of the literature, including all reported cases of bilateral lambdoid and posterior sagittal synostosis with no other sutures involved but sagittal and bilateral lambdoid. Case Description A 3-month-old female baby came to our attention because of a turrycephalic appearance of the head. Findings of the neurologic examination were unremarkable. Computed tomography scan showed premature fusion of posterior third of sagittal suture and bilateral lambdoid suture. Magnetic resonance imaging did not show relevant intracranial abnormalities. She underwent sagittal decompression extended posteriorly below the lambdoid suture combined with biparietal decompression to obtain expansion of both parieto-frontal bones and posterior fossa. Post-operative course was uneventful. Follow-up at 3 months showed a good aesthetic result, and results of the neurologic examination were unremarkable. Conclusions Pure MBS is a rare condition that unlike other multisutural complex craniosynostosis is rarely associated with genetic syndromes, has a low rate of associated intracranial anomalies, and has less need for more skull-remodeling surgery. The choice of the most suitable surgical procedure must be tailored on the patient, considering preoperative head appearance and eventually associated anomalies.

The aim of this study was to investigate MRI-derived diffusion weighted imaging (DWI), 1H-MR spectroscopy (1H-MRS) and arterial spin labeling (ASL) perfusion imaging in comparison with 18F-dihydroxyphenylalanine (DOPA) PET with respect to diagnostic evaluation of pediatric diffuse midline gliomas (DMG) H3K27M-mutant and wild-type. We retrospectively analyzed 22 pediatric patients with DMG histologically proved and molecularly classified as H3K27M-mutant (12 subjects) and wild-type (10 subjects) who underwent DWI, 1H-MRS, and ASL performed within 2 weeks of 18F-DOPA PET. DWI-derived relative minimum apparent diffusion coefficient (rADC min), 1H-MRS data [choline/N-acetylaspartate (Cho/NAA), choline/creatine (Cho/Cr), and presence of lactate] and relative ASL-derived cerebral blood flow max (rCBF max) were compared with 18F-DOPA uptake Tumor/Normal tissue (T/N) and Tumor/Striatum (T/S) ratios, and correlated with histological and molecular features of DMG. Statistics included Pearson’s chi-square and Mann-Whitney U tests, Spearman’s rank correlation and receiver operating characteristic (ROC) analysis. The highest degrees of correlation among different techniques were found between T/S, rADC min and Cho/NAA ratio (p

Objective Given the lack of significant responses to many queries regarding behavior, treatment options, and possible prevention of iatrogenic intraspinal inclusion tumors (IITs), we think that further clinical, radiologic, and follow-up data are mandatory to better characterize this entity. We retrospectively reviewed a series of 14 consecutive patients with IIT occurring after myelomeningocele repair. The long follow-up is a mainstay of this series and may help a better understanding of the history of this slow-growing disease. To date, this is the largest series of IITs after myelomeningocele repair reported in the literature. Methods A retrospective chart review was performed to identify all cases of surgically repaired myelomeningocele at the Department of Neurosurgery of G. Gaslini Children’s Hospital in Genoa, from January 1993 to January 2018. Among them, data regarding patients in whom an IIT developed were recovered. The medical records of these patients and their clinical history, neurologic examination, and diagnostic workup were reviewed. Results From January 1993 to January 2018, 160 cases of myelomeningocele were surgically treated. Among them, 14 cases of IIT developed. The mean time between myelomeningocele repair and IIT diagnosis was 94.7 months. The mean follow-up time was 60.1 months. Conclusions It is well established that IITs may be discovered in patients who have previously undergone myelomeningocele repair. In our series, with a long follow-up time, we describe the possible range of behavior of such lesions and the utility of surgical treatment of primary therapy. Our series confirms that residual IITs showed marked stability during our long follow-up.

We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized.

Background Dermoid and epidermoid cysts are among the most frequent lesions of the scalp in the pediatric population. Optimal management of a suspected dermoid or epidermoid cyst in children is debated: Some authors advocate conservative management on the basis of the benign histology of these entities, while others prefer surgical excision. Objective Our objective is to demonstrate that excision of dermoid and epidermoid cysts is a safe procedure and that early surgery is effective in preventing potential complications related to cyst growth. Methods We retrospectively collected data on patients who underwent surgery for excision of proven dermoid or epidermoid cysts between January 2006 and October 2017. Results In 234 patients, 237 cysts were excised. Mean age at presentation was 26.99 ± 32.7 months; 48.7% of patients were operated on between 1 and 3 years of age, and 32.9% were younger than 1 year of age. Cysts were more frequently located in the frontal bone than in occipital and supraorbital regions. In 36.28% of cases there was no significant cranial impingement, while 21.94% of the cysts eroded through a partial thickness of the cranium, 12.23% were in the full thickness of the skull, and 0.84% had epidural extension. We identified 22 intradiploic cysts. Statistical analysis demonstrated significant association between frontal and pterional localization and bone erosion. Neither major complications nor cyst recurrence were observed. Conclusions Excision of dermoid and epidermoid cysts is a safe procedure for neurosurgeons dealing with this disease, even in young patients. Early resection is recommended due to the potential adverse effects that may occur if these cysts are left untreated.

Objective The aim of this article is to introduce a new skin and fascia opening for intrathecal baclofen pump implantation in the abdomen, with the purpose of reducing complications related to wound breakdown. Methods We introduce a novel way of cutaneous and fascial opening that leads two opposed “L shaped” incisions. Results This method entails numerous advantages. The first advantage is avoiding the direct alignment of overlapped sutures, which creates a locus minoris resistentiae that can weaken and break under the push of the pump. Another advantage consists of an increased obstruction against deep extension of infective processes from cutaneous origin. The wide opening of the subfascial pocket permits the implantation of any type of pump available, and it reduces complexities in reopening the pouch for pump replacement. It also permits the fastening of all anchoring systems usually present in pumps. Another advantage is the improved possibility of careful muscle cauterization thanks to the wide fascia opening, with reduced risk of postsurgical hematoma. Our results showed a reduction of wound complications with this method. Conclusions This method could contribute to reducing the rate of wound complications and patient discomfort.

Background Iatrogenic pseudoaneurysm of the superficial temporal artery after surgery for craniosynostosis is a complication that has never been described in the pertinent literature. Although reported for other types of surgeries, no case has been described in the pediatric population. Case Description We report on a case of pseudoaneurysm of the superficial temporal artery that occurred 9 days after corrective surgery for scaphocephaly. We also describe the management of this complication. Conclusion Pseudoaneurysm is an exceptional complication in surgery for craniosynostosis, but it should be considered in case of swelling in the temporal region.