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. METHODS: We selected cases belonging to the IB category of Nabors et al.'s classification who underwent surgery between 2008 and 2021 at Giannina Gaslini Hospital. Exclusion criteria were prior history of trauma, infections, or operations. Patients' clinical details, associated conditions, surgical techniques, peri- and postoperative complications, and outcomes were collected retrospectively from clinical charts. We compared our series to literature: keywords "intrasacral meningocele" were used on the search engine MEDLINE - Pubmed. RESULTS: We identified 23 cases: 5 of the 14 symptomatic patients had a complete resolution, and 5 had a substantial clinical improvement after surgery. Cyst recurrence and major postoperative complication occurred in none. Among 59 articles considered for evaluation, 50 were excluded and remaining 9 articles underwent full-text analysis. DISCUSSION AND CONCLUSION: The pathogenesis of instrasacral meningoceles is still not completely understood and the spectrum of symptoms is wide. A posterior surgical approach with sacral laminectomy is preferred, although in selected cases it is possible to perform a supplemental anterior approach (sometimes endoscopic). In our surgical series, the largest one published in the literature, a good clinical outcome was achieved in most patients with no cyst's recurrence, pointing out the importance of surgical interruption of communication between cyst and subdural space.

Transient meningism in children after non-autologous duraplasty for Chiari Malformation surgery: A case series.

BACKGROUND: Increasing the posterior fossa volume is the mainstay of treatment for Chiari type 1 Malformation (C1M) and type 1.5 (C1.5M). Different options to restore CSF flow have been described but no consensus has been reached yet. Bony decompression of posterior cranial fossa with dural opening provides good results but at the price of complications such as pseudomeningocele and aseptic meningitis. A single center retrospective analysis was conducted to find any relationships between outcome and perioperative factors. As a second goal a specific analysis was conducted on the complications and their hypothetical causes. METHODS: All the pediatric patients who underwent to posterior fossa bony decompression and dural opening for C1M or C1.5M in the period 2008-2020 were included in the study. A minimum period of three-months follow-up was considered among the inclusion criteria. RESULTS: A population of fifty-three consecutive patients was collected. Pseudomeningocele and a mild meningeal irritation resulted the most frequent complications. Considering preoperative and intraoperative factors, the type of dural graft showed a relatively strong correlation (P<.01) with pseudomeningocele appearance and the development of meningism. In the latter case, a short course of steroids was the only treatment required to control symptoms. CONCLUSIONS: Different factors could influence the outcome in Chiari Malformation surgery and eventually the development of complications. An adequate dural graft selection is of paramount importance when a dural opening for posterior fossa augmentation is planned. In case of mild meningeal irritation, a trial with short course steroids could avoid revision surgery.

Clinical and oncological outcomes in single-stage versus staged surgery for pediatric craniopharyngiomas: a multicenter retrospective study.

PURPOSE: Craniopharyngiomas (CPGs) are aggressive brain tumors responsible of severe morbidity in children. The best treatment strategies are under debate. Our study evaluates surgical, pituitary, and hypothalamic outcomes of a tailored staged-surgical approach compared to a single-stage radical approach in children with CPGs. METHODS: Multicenter retrospective study enrolling 96 children treated for CPGs in the period 2010-2022. The surgical management was selected after a multidisciplinary evaluation. Primary endpoint includes the inter-group comparison of preservation/improvement of hypothalamic-pituitary function, the extent of resection, and progression-free survival (PFS). Secondary endpoints include overall survival (OS), morbidity, and quality of life (QoL). RESULTS: Gross Total Resection (GTR) was reached in 46.1% of cases in the single-stage surgery group (82 patients, age at surgery 9 ± 4.7 years) and 33.3% after the last operation in the staged surgery group (14 patients age 7.64 ± 4.57 years at first surgery and 9.36 ± 4.7 years at the last surgery). The PFS was significantly higher in patients addressed to staged- compared to single-stage surgery (93.75% vs 70.7% at 5 years, respectively, p = 0.03). The recurrence rate was slightly higher in the single-stage surgery group. No significant differences emerged in the endocrinological, visual, hypothalamic outcome, OS, and QoL comparing the two groups. CONCLUSIONS: In pediatric CPGs' surgical radicality and timing of intervention should be tailored considering both anatomical extension and hypothalamic-pituitary function. In selected patients, a staged approach offers a safer and more effective disease control, preserving psychophysical development.

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

BACKGROUND: Neural Tube Defects (NTD) are a common class of birth defects that occur in approximately 1 in 1000 live births. Both genetic and nongenetic factors are involved in the etiology of NTD. Planar cell polarity (PCP) genes plays a critical role in neural tube closure in model organisms. Studies in humans have identified nonsynonymous mutations in PCP pathway genes, including the VANGL genes, that may play a role as risk factors for NTD. METHODS: Here, we present the results of VANGL1 and VANGL2 mutational screening in a series of 53 NTD patients and 27 couples with a previous NTD affected pregnancy. RESULTS: We identified three heterozygous missense variants in VANGL1, p.Ala187Val, p.Asp389His, and p.Arg517His, that are absent in controls and predicted to be detrimental on the protein function and, thus, we expanded the mutational spectrum of VANGL1 in NTD cases. We did not identify any new variants having an evident pathogenic effect on protein function in VANGL2. Moreover, we reviewed all the rare nonsynonymous or synonymous variants of VANGL1 and VANGL2 found in patients and controls so far published and re-evaluated them for their pathogenic role by in silico prediction tools. Association tests were performed to demonstrate the enrichment of deleterious variants in reviewed cases versus controls from Exome Variant Server (EVS). CONCLUSION: We showed a significant (p = 7.0E-5) association between VANGL1 rare genetic variants, especially missense mutations, and NTDs risk.

Glioneuronal tumors and epilepsy in children: seizure outcome related to lesionectomy.

AIM: Glioneuronal tumors (especially gangliogliomas and dysembryoplastic neuroepithelial tumors) are an increasingly recognised cause of drug-resistant epilepsy in children. The optimal surgical strategy (lesionectomy vs. extended resection of epileptogenic peritumoral areas) to obtain seizure control has not been fully established. Our aim was to analyze the post-surgical seizure outcome in children with epileptogenic glioneuronal tumors related to lesionectomy. METHODS: The clinical data were collected through a database. Video-EEG and MRI were performed in all patients pre-operatively and at the follow-up. RESULTS: Our series included 22 patients. The age range at surgery was 10 months-16 years (mean: 6.5±4.5 years). Epilepsy duration ranged 1-78 months (mean: 11.6±17.0). There were complex partial seizures in 14 cases, simple partial seizures in 6 patients and generalized epilepsy in 2. Gross-total surgical removal was achieved in 15 (68.2%) patients. At the last follow-up (mean 4.7 years), 20 (90.9%) patients were seizure-free (Engel Class I) and two (9.1%) were Engel Class III. Six out of seven (85.7%) patients with subtotal removal were Engel Class I. Statistical analysis failed to detect any difference between seizure outcome (Engel Class) and tumor type (DNT vs. GG; P=1.00) or location (temporal vs. non temporal; P=0.51), and extension of the resection (total vs. subtotal; P=1.00). CONCLUSION: Primary aim of the surgery for epileptogenic glioneuronal tumors is to remove the lesion and to obtain a complete seizure control. However, if a complete tumor resection cannot be carried out, a subtotal removal of the lesion can equally provide satisfactory results.

Spinal dysraphism: MR imaging rationale.

Spinal cord development occurs through the three consecutive periods of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal cord malformations derive from defects in these early embryonic stages, and are collectively called spinal dysraphisms. Spinal dysraphisms may be categorized clinically into open and closed, based on whether the abnormal nervous tissue is exposed to the environment or covered by skin. Open spinal dysraphisms include myelomeningocele and other rare abnormalities such as myelocele, hemimyelomeningocele, and hemimyelocele, and are always associated with a Chiari II malformation. Closed spinal dysraphisms are further divided into two subsets based on whether a subcutaneous mass is present in the low back. Closed spinal dysraphisms with mass comprise lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category involves abnormal notochordal development, either in the form of failed midline integration (ranging from complete dorsal enteric fistula to neurenteric cysts and diastematomyelia) or of segmental agenesis (caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging is the imaging modality of choice for evaluation of this complex group of disorders.

Intraventricular supratentorial tumors in children.

Overall, intraventricular supratentorial tumors are rare in childhood. Classification can be based on the separation of lesions originating in intraventricular structures, such as choroid plexuses, from glial neoplasms of the ventricular wall which tend to infiltrate the ventricular cavities. Aim of the present study is to review the most common neoplasms of this region in childhood. Choroid plexus tumors (papillomas and carcinomas) and subependymal giant cell astrocytomas are dealt with, while for the other neoplasms which are rarer or more typic of other age ranges, specific reports should be consulted. Choroid plexus papillomas affect infants and are the most frequent oncological type among congenital tumors. The malignant variant (grade III-IV) is represented by the less frequent the neoplasms. The malignant variant (grade III-IV) is represented by the less frequent choroid plexus carcinoma which is markedly invasive with respect to adjacent nervous structures and has a high tendency to form metastases even at onset. Anaplastic papillomas are intermediate forms whose correct histopathology is still debated. Most frequent glial tumors are subependymal giant-cell astrocytomas. They are benign tumors (grade I) typically albeit not constantly associated to tuberous sclerosis. In this case the differentiation from subependymal nodules plays a major role. Contrast enhanced CT is fundamental in this assessment. Anaplastic variants, though rare, are well-known.

Chiari complex in children--neuroradiological diagnosis, neurosurgical treatment and proposal of a new classification (312 cases).

Chiari malformations are a group of anomalies particularly involving the hindbrain and cervical spinal cord. Since these malformations present many common features, we called them "Chiari Complex". After reviewing our 312 patients affected by different types of Chiari malformations we propose the following classification: Chiari I (30 cases): 1) This malformation may be divided in two sub-types: a) classic and b) myelencephalic forms. 2) Only three children were admitted with specific clinical symptoms and they had an occipito-cervical surgical decompression. Chiari II (276 cases): 1) Most of our patients (70%) presented with progressive hydrocephalus and they needed a CSF shunt to be inserted. 2) Seven sub-types of 4th ventricle morphology and size were identified. 3) Only 11 patients underwent a cervical decompression; in 182 children CSF shunting resulted in a good clinical outcome. Chiari III (2 cases): Chiari II signs must be associated with an occipito-cervical cephalocele. In both cases there were other severe associated CNS malformations. Chiari IV (4 cases): We propose this name for patients with myelomeningocele (MMC) and severe cerebellar hypoplasia.

On the predictive value of radiological signs for the presence of dural lacerations related to fractures of the lower thoracic or lumbar spine.

The predictive value of radiological signs for the presence of lacerations of the thoracolumbar dura in spine-injured patients could represent an important adjunct to the rationale for the optimal management, owing to the possible onset of early or delayed complications of these lesions. Occurrence of signs assumed to be related to dural tears, such as separation of the pedicles, fractures of the laminae, and encroachment of the spinal canal, was analyzed in a consecutive series of 25 patients submitted to surgical reduction and stabilization of the fractured lower thoracic or lumbar spine in a 24-month period. No statistically significant correlation was found between dural lacerations and any of the examined signs. Leaks of cerebrospinal fluid through traumatic breachs of the meninges were found in 16 of the 25 cases. The high rate of occurrence of dural lesions associated with fractures of the lower thoracic or lumbar spine adds a further argument to the aggressive approach to these injuries.