Cryptogenic posterior circulation stroke in children.

We aimed to evaluate the percentage of posterior circulation arterial ischaemic stroke (PCAIS) caused by craniovertebral junction (CVJ) anomalies and describe their clinical course. Children admitted to a tertiary care paediatric hospital with PCAIS between July 2017 and December 2020 were assessed retrospectively for disease aetiology. We reviewed the clinical, radiological, and surgical details of children with evidence of CVJ anomalies. Fourteen (24.1%) of 58 children admitted with arterial ischaemic stroke had posterior circulation involvement. The mean age of patients presenting with posterior circulation stroke was 6 years 6 months (range 3 months-15 years), 11 were male. Six of 14 cases with PCAIS were due to CVJ anomaly, their ages ranged from 4 months to 15 years (two age ranges were noted, 4 months-4 years and 11-15 years), four were male. Two children had atlantoaxial dislocation with basilar invagination, two had Bow Hunter syndrome with Chiari malformation type 1 (one with completed stroke), one had Chiari malformation type 1 alone, and one presented with Farber disease with proatlas segmentation anomaly in CVJ. The time lag to stroke and CVJ diagnosis ranged from 2 weeks to 24 months. A dynamic angiogram was required to evaluate biomechanical changes on scans with inconclusive findings on standard stroke imaging. CVJ anomalies are an important treatable cause of paediatric posterior circulation stroke. Cervical spine x-ray in flexion and extension should be done in all patients with posterior circulation stroke beyond the acute period. In cryptogenic aetiology, provocative angiography with guarded neck rotation should be considered to evaluate possible dynamic vertebral artery compression. WHAT THIS PAPER ADDS: Craniovertebral junction anomalies are an important cause of posterior circulation stroke in children. Evidence of flat occiput, short neck, and short stature in children with posterior circulation stroke should be assessed. Dynamic imaging helps identify dynamic vertebral artery compression.

Endoscopic third ventriculostomy through lamina terminalis: A feasible alternative to standard endoscopic third ventriculostomy.

CONTEXT: Endoscopic third ventriculostomy (ETV), wherein a stoma is created in the floor of the third ventricle, has now become the standard procedure for noncommunicating hydrocephalus across the world. However, in certain situations, this procedure may pose technical difficulties. These include a narrow prepontine space, vascularized third ventricular floor, the presence of prominent blood vessels traversing within the prepontine space, significant basal exudates, thickened and ill-defined third ventricular floor, and distorted floor anatomy. In such situations, an endoscopic lamina terminalis opening may provide a safer and more effective alternative to the standard technique. AIMS: The paper aims to discuss the different indications, technical nuances, and outcome of endoscopic third ventriculostomy through the lamina terminalis (ETV LT) utilizing the standard transventricular transforaminal route. SETTINGS AND DESIGN: A total of 240 patients underwent ETV between January 2007 and January 2014. Of these patients, 8 patients required an EVT LT and these patients formed the subset of patients for the present study. In all the 8 patients, the decision to perform fenestration of the LT during the endoscopic procedure was taken intraoperatively. We qualified a procedure to be a success when a second procedure was not required subsequently. RESULTS: Of the eight patients in whom ETV LT was done, four had aqueductal stenosis (including one case of post-primary ETV), three patients were diagnosed with post-meningitic hydrocephalus, and the remaining patient had a posterior fossa tumor. The procedure was successful in 6 of our patients who did not require a second procedure till the last follow-up. CONCLUSIONS: Endoscopic transventricular transforaminal LT fenestration with a flexible neuroendoscope is a feasible alternative to the standard ETV when technical difficulties precludes safe performance of the latter procedure.

Endoscopic Trans-Aqueductal Procedures for Juxta 4th Ventricular and Posterior Fossa Arachnoid Cyst using Flexible/Video Neuroendoscope: A Novel Approach.

Objective Fourth ventricular and juxta fourth ventricular arachnoid cysts (ACs) are rare clinical entities. Conventionally, ACs are managed with either micro-surgical excision or cerebrospinal fluid (CSF) diversionary procedures such as a shunt. Effective treatment modality still remains controversial. Advances in neuroendoscopy have helped in the effective management of this benign condition in a minimally invasive method. Description of a subset of patients with fourth ventricular and juxta fourth ventricular ACs and hydrocephalus who underwent transaqueductal cysto-ventriculostomy with a flexible neuroendoscope was the objective of this study. Methods This study included the data of patients with fourth ventricular and juxta fourth ventricular ACs and hydrocephalus operated between 2008 and 2019. Of 350 intraventricular neuroendoscopic procedures done during the last 11 years, 8 had obstructive hydrocephalus due to fourth ventricular and juxta ventricular arachnoid cyst. Endoscopic transaqueductal cystoventriculostomy and transaqueductal shunt placement was done in all using a flexible neuro-endoscope. Results Patients were aged 20 days to 15 months; in the neonate, the diagnosis was established during routine antenatal screening. Surgical procedure was done using a flexible neuro-endoscope. All improved symptomatically, radiologically and are on regular follow-up to date. One patient had postoperative meningitis, which gradually improved with antimicrobial therapy. None required alternative form of treatment such as shunt or craniotomy and microsurgical excision. Conclusion Endoscopic transaqueductal cysto-ventriculostomy is a safe, effective and minimal invasive modality in the hands of an experienced neurosurgeon for the management of fourth ventricular and juxta ventricular arachnoid cysts.

Primary extranodal histiocytic sarcoma of lumbar spine.

A 17-year-old male patient presented with lower back pain and weakness of lower limbs. On radiological investigation, a destructive bony lesion involving the third lumbar vertebra was seen associated with soft tissue extension and an extradural component. The lesion was surgically excised in view of the rapidly progressing symptoms. The histologic diagnosis was histiocytic sarcoma. Further investigations did not reveal any other lesion elsewhere. The case is being presented in view of the uncommon occurrence of a primary extranodal histiocytic sarcoma of the lumbar spine, which simulated a primary bone tumor.

Pituitary blastoma, expanding the spectrum of newly recognized entities. A case report.

Tumors of the pituitary gland and sellar region represent about 15% of all brain tumors, with pituitary adenoma being the commonest and pituitary carcinoma being very rare. Pituitary tumors in children are even rarer. Pituitary blastoma, a pediatric adenohypophysial tumor, is a new entity described in the 2017 WHO classification of pituitary tumors. This is a very rare tumor with only 21 cases reported so far. Hence, we are reporting this unusual case seen in a 7-month-old infant who presented with a large sellar/suprasellar mass with pressure symptoms of short duration. Typically, they present between 7-24 months of age. On histopathology, a cellular tumor was seen with primitive-looking round cells with scanty cytoplasm with few well-defined gland or rosette-like structures. The immunohistochemical stains showed diffuse strong staining for synaptophysin with a very high MIB-1 index. Other markers for common round cell tumors in this age group and hormonal markers of pituitary tumors were negative with INI-1 being intact. The initial cases described by Scheithauer presented with Cushing's disease and at least focally expressed adrenocorticotrophic hormone on immunohistochemistry. However, nonfunctioning tumors are also seen, albeit rarely. These are known to be associated with DICER 1 mutations and have a poor prognosis. Hence, morphologic recognition in the right clinical context and excluding other differential diagnoses in infants help make the correct diagnosis.

Exosomal PTEN as a Predictive Marker of Aggressive Gliomas.

Background: Liquid biopsies have emerged as convenient alternative diagnostic methods to invasive biopsies, by evaluating disease-specific biomarkers and monitoring the disease risk noninvasively. Phosphatase and tensin homolog deleted in chromosome 10 (PTEN) is a potent tumor suppressor, and its deletion/mutations are common in gliomas. Objective: Evaluate the feasibility of non-invasive detection of PTEN and its downstream genes in serum exosomes of glioma patients. Materials and methods: PTEN, Yes-associated-protein 1 (YAP1), and lysyl oxidase (LOX) transcript expression were monitored through polymerase chain reaction (PCR) in serum exosomes and their paired tumor tissues. The impact of PTEN and its axis genes expression on the overall survival (OS) was monitored. Results: Out of the 106 glioma serum samples evaluated, PTEN was retained/lost in 65.4%/34.6% of the tumor samples while it was retained/lost in 67.1%/32.9% of their paired exosomal fractions. PTEN expression in both tissue and paired exosomal fractions was observed in 48.11% of the samples. Sanger sequencing detected three mutations (Chr10: 89720791(A>G), Chr10:89720749(C>T), and Chr10:89720850(A>G). Both PTEN-responsive downstream genes (YAP1) and LOX axis were upregulated in the PTEN-deficient samples. PTEN loss was associated with poor survival in the glioma patients (hazard ratio (HR) 0.68, confidence interval (CI): 0.35-1.31, P = 0.28). The OS of the exosomal PTEN cohort coincided with the tumor-tissue PTEN devoid group (HR 1.08, CI: 0.49-2.36, P = 0.85). While, old age yielded the worst prognosis; gender, location, and grade were not prognostic of OS in the multivariate analysis. Conclusions: PTEN and its responsive genes YAP1 and LOX can be detected in serum exosomes and can serve as essential tools for the non-invasive evaluation/identification of aggressive gliomas.

Management of Complex Hydrocephalus.

BACKGROUND: Management of complex/multiloculated/septated hydrocephalus is challenging. Neuroendoscopy has been well-established when compared to multiple shunt placements in management of multiloculated hydrocephalus (MH). The main aim of neuroendoscopy is to convert multiple locules into a single locule and drain it by either third ventriculostomy or ventriculoperitoneal shunt. OBJECTIVE: The objective is to reduce the number of surgical procedures and improve the quality of life. Neuroendoscopy avoids multiple shunt placement and need for revision of shunt. METHODS: Literature review regarding natural history, pathogenesis, classification and management of complex/uni/multiloculated hydrocephalus was extensively done and our minimal experience with these cases has been taken into consideration. CONCLUSION: Neuroendoscopy when combined with frameless neuronavigation is reliable, accurate, and extremely useful in maintaining orientation and localizing the appropriate fenestration site in MH where anatomical landmarks are grossly distorted.

Indian Society of Pediatric Neurosurgery Consensus Guidelines on Preventing and Managing Shunt Infection: Version 2020-21.

BACKGROUND: Shunt infection is the most significant morbidity associated with shunt surgery. Based on the existing literature for the prevention and management of shunt infection, region and resource-specific recommendations are needed. METHODS: In February 2020, a Guidelines Development Group (GDG) was created by the Indian Society of Paediatric Neurosurgery (IndSPN) to formulate guidelines on shunt infections, which would be relevant to our country and LMIC in general. An initial email survey identified existing practices among the membership of the IndSPN, and eight broad issues pertaining to shunt infection were identified. Next, members of the GDG performed a systematic review of the literature on the prevention and management of shunt infection. Then, through a series of virtual meetings of the GDG over 1 year, evidence from the literature was presented to all the members and consensus was built on different aspects of shunt infection. Finally, the guidelines document was drafted and circulated among the GDG for final approval. Grading of Recommendations Assessment, Development and Evaluation (GRADE) system was used to grade the evidence and strength of recommendation. RESULTS: The guidelines are divided into eight sections. Level I and Level II evidence was available for only five recommendations and led to a moderate level of recommendations. Most of the available evidence was at Level III and below, and hence the level of recommendation was low or very low. A consensus method was used to provide recommendations for several issues. CONCLUSIONS: Although most of the recommendations for the prevention and management of shunt infections are based on a low level of evidence, we believe that this document will provide a useful reference to neurosurgeons not only in India but also in other low and middle income countries. These guidelines need to be updated as and when new evidence emerges.

Persistent Craniopharyngeal Canal: A Rare Cause for Recurrent Meningitis in Pediatric Population.

We present the case of a 5-year-old girl who had six episodes of meningitis. She also had panhypopituitarism and was found to have a persistent craniopharyngeal canal (CPC) as the cause of her recurrent meningitis. Role of neuroradiology and a high index of suspicion by the clinical team are highlighted here. Persistent CPC is a rare cause of recurrent meningitis. We discuss the approach to the child with recurrent meningitis.

Clinical Profile, Yield of Cartridge-based Nucleic Acid Amplification Test (GeneXpert), and Outcome in Children with Tubercular Meningitis.

BACKGROUND: GeneXpert MTB/RIF is a test for early, rapid diagnosis of tubercular meningitis (TBM). AIM: The aim of this article was to study the clinical profile, radiological features, yield of GeneXpert, neurosurgical interventions, and outcome of TBM in children. SETTINGS AND DESIGN: This was a retrospective and prospective observational study. MATERIALS AND METHODS: Diagnosis was based on the uniform research definition criteria and was staged according to the British Medical Research Council. Mantoux test, analysis of cerebrospinal fluid (CSF), CSF GeneXpert, and radiological investigations were performed. RESULTS: Of 36 patients, 50% were aged 1-5 years. Fever (100%), headache (82%), altered sensorium (80%), and vomiting (66%) were common features. Twelve (33%) had contact with active case of tuberculosis; 32 received Bacille Calmette Guarin vaccination. Neurological features included severe deterioration in sensorium (Glasgow Coma Scale < 8) (38%), mild and moderate deficit in sensorium (31%), hemiparesis (41%), and involvement of sixth (25%) and seventh (22%) cranial nerves. Cerebral vision impairment (25%), papilledema (25%), and dystonia (22%) were other findings. CSF GeneXpert was positive in 37% (12/33) patients. Hydrocephalus and basal exudates (75%) were noted on neuro-imaging. Surgical intervention was performed in children with hydrocephalus (13/27). Omayya reservoir was placed in seven children, of which five needed conversion to ventriculoperitoneal (VP) shunt; direct VP shunt was carried out in six (6/13). Good outcome was noted in 78% at discharge. Stage III TBM (P = 0.0001), cerebral infarcts (P = 0.0006), and motor deficits (P = 0.03) were associated with poor outcome. Sequelae included learning difficulties with poor scholastic performance (31.5%). CONCLUSION: GeneXpert has high diagnostic specificity, but negative results do not rule out TBM. CSF GeneXpert provided quick results. Placement of Ommaya reservoir in TBM stage II and III with hydrocephalus was not successful. Hydrocephalus was managed conservatively with success (53%).

Neuroendoscopy for Intracranial Arachnoid Cysts in Infants: Therapeutic Considerations.

Background The use of the endoscope for various cranial procedures is gradually expanding. Intracranial cystic lesions in the brain are one of the most attractive targets for this minimally invasive procedure, thus avoiding conventional craniotomy. These cystic lesions in the brain, namely arachnoid cysts, are congenital. Surgical treatment depends on clinical presentation, location, and age. Patients A total of 13 patients < 1 year of age with intracranial cysts were operated on between 2005 and 2013. Six presented with hydrocephalus, four presented with seizure, one with abnormal head movement, and two had large asymptomatic cysts. Four children had infratentorial arachnoid cysts; of these, three required a transaqueductal procedure. All the patients underwent endoscopic cystoventriculostomy and/or cystocisternostomy and third ventriculostomy in selected cases with a biopsy from the cyst wall. Results Clinically and radiologically all children showed significant improvement with an average follow-up ranging from 8 months to 6 years. There were no intraoperative complications. Three children developed subdural hygroma that subsided with conservative treatment, and one child with pseudomeningocele required a cystoperitoneal shunt at a later date. Conclusion A symptomatic intracranial arachnoid cyst or a large asymptomatic cyst are indications for neurosurgical intervention, and endoscopy is a good treatment option with the advantage of minimal invasiveness and fewer complications. Endoscopic surgery has to be tailored according to the location and presentation.

Suprasellar arachnoid cyst presenting with bobble-head doll syndrome: Report of three cases.

Suprasellar arachnoid cysts can have varied presentations with signs and symptoms of obstructive hydrocephalus, visual impairment, endocrinal dysfunction, gait ataxia and rarely bobble-head doll movement. The bobble-head doll movement is a rare movement disorder characterized by antero-posterior bobbling of the head and neck on the trunk every 2-3 seconds. We present three cases with bobble-head doll syndrome associated with a large suprasellar arachnoid cyst and obstructive hydrocephalus, which were treated with endoscopic cystoventriculocisternostomy and marsupialization of the cyst.

Degenerated intervertebral disc prolapse and its association of collagen I alpha 1 Spl gene polymorphism: A preliminary case control study of Indian population.

BACKGROUND: Degenerated disc disease (DDD) is a common disorder responsible for increased morbidity in a productive age group. Its etiology is multifactorial and genetic factors have been predominantly implicated. Disc prolapse results due to tear in the annulus, which is a fibrous structure composed largely of type I collagen. Functional polymorphism at the Sp1 site of the collagen I alpha 1 (COL1A1) gene has shown a positive association with DDD in Dutch and Greek populations. The purpose of this study was to assess COL1A1 Sp1 gene polymorphism in the Indian population. MATERIALS AND METHODS: Fifty clinically and radiologically proven patients with disc prolapse requiring surgery were included as cases and 50 healthy, age-matched volunteers served as controls. After isolating DNA from their blood sample, genotyping for COL1A1 polymorphism (rs1800012) was performed and identified as GG, GT, and TT. RESULTS: The mean age and body mass index in cases and controls were similar. 76% of the patients were males. The most common site of disc degeneration was L4-L5 (36%), followed by L5-S1 (34%). Homozygous-GG, heterozygous GT, and homozygous TT genotypes were seen in 38 (76%), 10 (20%) and 2 (4%) cases respectively, controls had similar percentage of genotypes as well. The alleles in cases and the control group showed no significant difference (P = 0.6744) and followed the Hardy-Weinberg Equilibrium in the study population. CONCLUSION: The COL1A1 (rs1800012) is in Hardy-Weinberg equilibrium in the present subset of Indian population. But taken as a single factor, it was not found to be associated with DDD in this preliminary study. Disc degeneration is multifactorial and also anticipated to be a result of multiple genes involvement and gene-gene interaction.

Recurrent extradural hemangiopericytoma of thoracic spine: a case report.

Hemangiopericytoma (HPC) is a rare tumor that arises from pericapillary cells or pericytes of Zimmerman. In the central nervous system, it accounts for less than 1% of tumors, and spinal involvement is very rare. Meningeal hemangiopericytomas show morphological similarities with meningiomas particularly with angiomatous meningioma, where one needs to take the help of immunohistochemistry (IHC) to delineate HPC from meningioma. Here, we report a case of recurrent extradural HPC in a 16 year-old girl, who 5 years back had a pathological diagnosis of angiomatous meningioma, for D5-D6 lesion. On evaluation, magnetic resonance imaging (MRI) showed a large extradural tumor with a significant cord compression involving D5-D6 body, pedicle and ribs. Excision of the lesion and spinal stabilization was performed. The histopathological examination and immunohistochemistry performed on tumor sections revealed features favoring HPC. To conclude, detailed IHC is helpful in avoiding misdiagnosis and in further management of the patient.