SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome

We report the case of a 16-year-old girl presenting with spinal clear-cell multiple meningiomas (CCMs). In view of this presentation, we sequenced a bioinformatic panel of genes associated with susceptibility to meningioma, identifying a germline heterozygous variant in SMARCE1. Somatic DNA investigations in the CCM demonstrated the deletion of the wild-type allele (loss of heterozygosity, LOH), supporting the causative role of this variant. Family segregation study detected the SMARCE1 variant in the asymptomatic father and in the asymptomatic sister who, nevertheless, presents 2 spinal lesions. Germline heterozygous loss-of-function (LoF) variants in SMARCE1, encoding a protein of the chromatin-remodeling complex SWI/SNF, have been described in few fa-milial cases of susceptibility to meningioma, in particular the CCM subtype. Our case confirms the role of NGS in investigating predisposing genes for meningiomas (multiple or recurrent), with specific regard to SMARCE1 in case of pediatric CCM. In addition to the age of onset, the presence of familial clustering or the coexistence of multiple synchronous meningiomas also supports the role of a genetic predisposition that deserves a molecular assessment. Additionally, given the incomplete penetrance, it is of great importance to follow a specific screening or follow-up program for symptomatic and asymptomatic carriers of pathogenic variants in SMARCE1

History of Chiari type I malformation

Chiari type I malformation (CIM) was first described in the late 19th Century. However, it still raises a great interest among the scientific Community because of the increasing number of diagnosed cases, the still unclear pathogenesis and natural history and the different options in the surgical management. The present review aims at analyzing the centenary history of CIM, starting from the first description done by Hans Chiari to the more recent classification, in order to introduce such a complex disease and to show the way followed for its assessment over the time

Hydrocephalus and Chiari type I malformation

INTODUCTION: Hydrocephalus has been related to Chiari type I malformation (CIM) for a long time. The pathogenesis of this association is complex and still debated. DISCUSSION: A supratentorial hypertensive hydrocephalus may cause CIM, exerting pressure from above. Another pathogenetic hypothesis is based on the clinical and radiological data from patients affected by complex craniosynostosis, in which this association is more commonly observed as the consequence of a "cephalo-cranial disproportion" ultimately leading to a secondary hydrocephalus. In some cases, the concomitant presence of a stenosis of the jugular foramina would determine a condition of upward venous hypertension, resulting in the development of CIM and an associated hydrocephalus due to cerebellar parenchyma turgor. CONCLUSIONS: The radiological association of ventricular enlargement and hindbrain herniation would be the result of heterogeneous pathogenetic mechanisms which would then require specific therapeutic approaches. In this context, the endoscopic third ventricle-cisternostomy is gaining an increasing interest because of its more physiologic correction of the altered CSF dynamics and its minor interference on the developmental processes responsible for the association of hydrocephalus and CIM

Section of the filum terminale: is it worthwhile in Chiari type I malformation?

A section of the filum terminale (SFT) is used for the surgical treatment of isolated tethered cord or that resulting from neurulation disorders. More recently, it has been proposed for the management of the occult tethered cord syndrome (OTCS), though it is still under debate. Even more controversial appears to be the use of SFT in patients with Chiari type I malformation (CIM), which is based on the possible presence of OTCS. This review shows that: (1) there are issues both in favor and against the occurrence of OTCS, (2) there is no significant correlation between CIM and tethered cord, the old "caudal traction theory" being not supported by clinical or experimental evidences. On these grounds, a relationship between CIM and OTCS is hard to be demonstrated, (3) a subgroup of patients with CIM suffering from OTCS may exist and benefit from SFT

Postoperative Epileptic Seizures in Children: Is the Brain Incision a Risk Factor?

BACKGROUND: Postoperative seizures (PSs) after neurosurgical operations are common but little is known about the role of surgical brain incision on their genesis. This topic has not been addressed so far. OBJECTIVE: To verify if the corticotomy affects the risk of PSs and postoperative epilepsy (PE) in children. METHODS: One hundred forty-three consecutive pediatric cases operated on for supratentorial lesions at the same institution in the last 15 yr have been retrospectively reviewed by dividing them into group A, 68 children who required brain corticotomy mainly for hemispheric tumors, and group B, 75 children treated through extracortical approaches mainly for suprasellar and optic tumors. Patients with possible "epileptic" biases, like preoperative seizures, were excluded. RESULTS: No significant differences have been found between group A and B as far as incidence of PSs (11.7% vs 14.5%) and PE (4.5% vs 6.5%), timing, and type of seizures are concerned after a mean 6.8 yr follow-up. The size of corticotomy in group A (3 cm2) had no impact on epileptogenesis as well as the other variables considered in both groups (age, sex, extent of lesion resection). CONCLUSION: This study shows that the surgical cortical "trauma" would not represent a risk factor for PSs and PE. According to the present analysis and the literature, other causes seem to be involved (namely, electrolytic imbalance and brain gliosis). This information is important for preoperative surgical planning and postoperative management. A validation by both adult series and prospective studies is needed

Endoscopic Management of Pediatric Complex Hydrocephalus

Objective: To define the role of neuroendoscopy as an adjuvant technique for the management of pediatric complex hydrocephalus. Methods: We performed a retrospective analysis of a series of pediatric patients who had undergone surgery for complex hydrocephalus from January 2002 to March 2017 at 2 pediatric neurosurgery units in Rome, Italy and Mansoura, Egypt. The endoscopic procedures performed included cyst or membrane fenestration, septum pellucidotomy, foraminoplasty, and aqueductoplasty with or without a stent. In selected cases, endoscopic third ventriculostomy was performed as a combined procedure. The mean follow-up period was 5 years. Results: A total of 68 patients (26 females, 42 males), with a mean age of 2 years (range, 0\u201318), underwent 109 endoscopic procedures. Of the 68 patients, 39 (57%) were affected by multiloculated hydrocephalus, 17 by isolated lateral ventricle (24.6%), 3 by an excluded lateral ventricle horn (4.3%), 7 by an isolated fourth ventricle (10.1%), and 1 each by an isolated third ventricle and a cavum septi pellucidi cyst. The overall postoperative complications rate was 28% (shunt infection, 16.1%; shunt malfunction, 8.8%; subdural collection, 2.9%). At the latest clinical follow-up visit, 65% of the children had only 1 shunt, 25% (n = 17) had a double ventricular catheter, and 10% (n = 7) were shunt free. Conclusions: We have confirmed that neuroendoscopy has a main role in the long-term management of complex hydrocephalus, significantly contributing to the reduction of the number of shunts and the shunt revision rate. Neuronavigation should be performed in all cases in which the ideal trajectory should be established

Decompressive craniectomy and hydrocephalus: proposal of a therapeutic flow-chart

The decompressive craniectomy (DC), procedure that may be necessary to save lives of patients suffering from intracranial hypertension, is not complication-free. The two main complications are hydrocephalus and the sinking skin flap syndrome (SSFS). The radiological findings and the clinical evaluation may be not enough to decide when and/or how to treat hydrocephalus in a decompressed patient. SSFS and hydrocephalus may be not unrelated. In fact, a patient affected by hydrocephalus, after the ventriculoperitoneal shunt, can develop SSFS; on the other hand, SSFS per se can cause hydrocephalus.Treating hydrocephalus in decompressed patients can be challenging. Radiological findings and clinical evaluation may not be enough to define the most appropriate therapeutic strategy. CSF dynamics and metabolic evaluations can represent important diagnostic tools for assessing the need of a CSF shunt in patients with a poor baseline neurologic status. Based on our experience, we propose a flow-chart for treating decompressed patients affected by ventriculomegaly

Problems of reconstructive cranioplasty after traumatic brain injury in children

Cranial repair after traumatic brain injury in children is still burdened by unsolved problems and controversial issues, mainly due to the high rate of resorption of autologous bone as well as the absence of valid alternative material to replace the autologous bone. Indeed, inert biomaterials are associated to satisfactory results in the short period but bear the continuous risk of complications related to the lack of osteointegration capacity. Biomimetic materials claiming osteoconductive properties that could balance their mechanical limits seem to allow good cranial bone reconstruction. However, these results should be confirmed in the long term and in larger series. Further complicating factors that may affect cranial reconstruction after head injury should be identified in the possible associated alterations of CSF dynamics and in difficulties to manage the traumatic skin lesion and the surgical wound, which also might impact on the cranioplasty outcome. All the abovementioned considerations should be taken into account when dealing with the cranial reconstruction after decompressive craniectomy in children