Dural sinus malformation presenting with proptosis: report and review of a rare entity.

Dural sinus malformation (DSM) is a rare vascular malformation characterized by the dilatation of a dural venous sinus with or without an anomalous jugular bulb. Its presentation with venous-reflux-related secondary proptosis is anecdotal, with only six such cases reported so far. We report a 17-month-old boy who presented with a progressive proptosis of the right eye secondary to a DSM of the transverse sinus and torcula. Following endovascular embolization of the arterio-venous fistula, complete thrombosis of the venous lake and improvement in proptosis was noted at 6-month follow-up. Prognosis of this rare malformation is variable and dependent on specific angio-architectural features.

High flow arteriovenous malformation with transverse-sigmoid sinus stenosis and congestive venopathy mimicking DAVF.

BACKGROUND: Arteriovenous malformations commonly present with hemorrhage, seizures, headache and other symptomatology. However, AVMs presenting as venous hypertension, owing to downstream stenosis/occlusion of venous sinuses, are very rare. This presentation is much more common in patients with dural AVFs. CASE DESCRIPTION: We present a young lady with left frontal arteriovenous malformation with bilateral transverse-sigmoid sinus stenosis, presenting with features of venous hypertension, which was treated with surgical excision of AVM. This case demonstrates a rare example of AVM with co-existing venous sinus stenosis distal to the nidus. CONCLUSIONS: High flow AVMs may co-exist with venous sinus stenosis or occlusion and lead to congestive venopathy. Treatment of AVM with surgical resection can be performed safely to relieve the hyper-dynamic venous congestion.

Lifestyle and Occupational Stress: A Potential Risk Factor for Obstructive Sleep Apnea in Nonobese Male Subjects.

PURPOSE: To record the incidence of obstructive sleep apnea (OSA) in nonobese male subjects and investigate the coexistence of lifestyle stress, sleep deprivation, and upper airway inflammation. MATERIALS AND METHODS: 552 patients were assessed during a survey of banks, government and corporate offices, recruitment agencies, and schools between January 2012 and January 2016. After applying the inclusion and exclusion criteria designed for this study, the number of patients tapered down to 120 patients who underwent diagnostic tests, viz. polysomnography, chemiluminiscence immunoassay, nephelometry, and upper airway endoscopy. This revealed the presence of OSA coexistent with elevated serum cortisol, C-reactive protein (CRP), and upper airway inflammation. RESULTS: Polysomnography showed that 57 of 120 patients suffered from OSA. Objective evaluation of these patients exposed an undercurrent of lifestyle stress in 39 patients. CRP and serum cortisol were found to be significantly high (1.60 ± 0.52 and 7.20 ± 0.76 µg/dL, respectively) in 30 patients. Endoscopy revealed 18 patients with moderate, 7 with severe, and 5 with no upper airway inflammation. CONCLUSION: The results of this study demonstrated that OSA was found to be prevalent in the cohort of nonobese male patients studied. Coexistence of lifestyle stress, sleep deprivation, and upper airway inflammation was revealed.

Imaging features of rosette-forming glioneuronal tumours (RGNTs): A Series of seven cases.

OBJECTIVE: Rosette-forming glioneuronal tumours (RGNTs) are a recently described, rare, distinct nosological entity of the glioneuronal family. We describe imaging findings (CT and MRI) in seven patients with RGNTs. MATERIALS AND METHODS: This retrospective study includes seven RGNT patients (4 male, 3 female; age range: 7-42 years; mean age: 25 years) diagnosed and treated at our institute. MR studies were performed on 3 T and 1.5-T clinical MR systems. All patients were reviewed by two experienced neuroradiologists and imaging findings were tabulated. RESULTS: Five tumours were located in the posterior fossa, and two were in the pineal region. One of the tumours demonstrated multiple satellite lesions, which involved the midbrain, pons, medulla as well as the cervical cord. Tumours located in the pineal region compressed the 3rd ventricle/aqueduct and extended below the tentorium cerebelli. All the tumours demonstrated enhancement, and susceptibility was evident in six of the seven patients. CSF dissemination was present in two patients. CONCLUSION: RGNTs are usually solid-cystic tumours and frequently demonstrate peripheral/heterogeneous enhancement upon post-contrast study. Haemorrhage is a common feature which may not be evident on CT. Cerebrospinal fluid (CSF) dissemination is a feature and appropriate imaging should be performed whenever an RGNT is suspected. KEY POINTS: CT and MRI findings of seven RGNT cases were retrospectively reviewed. RGNTs are predominantly posterior fossa tumours. RGNTs are typically T1 hypointense and T2 hyperintense. Haemorrhage and peripheral/heterogeneous enhancement are common features of RGNTs. CSF dissemination is a feature of RGNTs and requires appropriate imaging.

Predictors of aneurysmal rebleed before definitive surgical or endovascular management.

BACKGROUND: Aneurysmal rebleed is the most dreaded complication following subarachnoid hemorrhage. Being a cause of devastating outcome, the stratification of risk factors can be used to prioritize patients, especially at high volume centers. METHOD: A total of 99 patients with aneurysmal rebleed were analyzed in this study both prospectively and retrospectively from August 2010 to July 2014. In the control group, 100 patients were selected randomly from the patient registry. A total of 25 variables from the demographic, historical, clinical and radiological data were compared and analyzed by univariate and multivariate logistic regression analysis. RESULTS: Significant independent predictors of aneurysm rebleed were the presence of known hypertension (p = 0.023), diastolic blood pressure of >90 mmHg on admission (p = 0.008); presence of loss of consciousness (p = 0.013) or seizures (p = 0.002) at first ictus; history of warning headaches (p = 0.005); higher Fisher grade (p < 0.001); presence of multiple aneurysms (p = 0.021); irregular aneurysm surface (0.002). CONCLUSIONS: Identification of high risk factors can help in stratifying patients in the high risk group. The risk stratification strategy with early intervention can prevent rebleeds. This in turn may translate into better outcomes of patients with intracranial aneurysms.

Cerebral aneurysm treatment in India: Results of a national survey regarding practice patterns in India.

BACKGROUND: The management of intracranial aneurysms (IAs) varies widely depending upon a number of factors. OBJECTIVE: To understand the variations in practice patterns in the treatment of IAs in India. METHODS: The survey consisted of 23 questions. Two group emails were sent to members of the Neurological Society of India and the Neurological Surgeons Society of India. Uni- and multivariate analysis was performed where appropriate. RESULTS: The response rate was 10.13% (150/1480). Fifty percent of the respondents used steroids in subarachnoid hemorrhage and 64% initiated triple-H therapy prophylactically. There was no significant difference in the use of steroids, antifibrinolytics, mannitol, or hypertonic saline and the choice of therapeutic intervention (clipping or endovascular therapy [EVT]) for anterior circulation aneurysms between physicians working at teaching and nonteaching hospitals. However, physicians in teaching and government hospitals were less likely to choose EVT for middle cerebral artery aneurysms as the first line of treatment (odds ratio [OR] 0.6 and 0.1, respectively). Physicians working at private hospitals were more likely to have EVT facilities than those working in government-owned hospitals. On multivariate analysis, physicians working in teaching hospitals preferred surgical clipping to EVT for posterior circulation aneurysms (OR = 0.7) and physicians at teaching hospitals performed >50 cases/year. CONCLUSION: Our study demonstrates the prevailing practice patterns in the management of IAs in India. Surgical clipping is the preferred treatment of choice for anterior circulation aneurysms and EVT for aneurysms along the posterior circulation. Corticosteroids and prophylactic "triple-H" therapy are still used by a large proportion of physicians.

Highest cited papers published in Neurology India: An analysis for the years 1993-2014.

CONTEXT: The highest cited papers published in a journal provide a snapshot of the clinical practice and research in that specialty and/or region. AIMS: The aim of this study was to determine the highest cited papers published in Neurology India and analyze their attributes. SETTING AND DESIGN: This study was a citation analysis of all papers published in Neurology India since online archiving commenced in 1993. METHODS: All papers published in Neurology India between the years 1993-2014 were listed. The number of times each paper had been cited up till the time of performing this study was determined by performing a Google Scholar search. Published papers were then ranked on the basis of total times cited since publication and the annual citation rate. Statistical Techniques: Simple counts and percentages were used to report most results. The mean citations received by papers in various categories were compared using the Student's t-test or a one-way analysis of variance, as appropriate. All analyses were carried out on SAS University Edition (SAS/STAT®, SAS Institute Inc, NC, USA) and graphs were generated on MS Excel 2016. RESULTS: The top papers on the total citations and annual citation rate rank lists pertained to basic neuroscience research. The highest cited paper overall had received 139 citations. About a quarter of the papers published had never been cited at all. The major themes represented were vascular diseases and infections. CONCLUSIONS: The highest cited papers reflect the diseases that are of major concern in India. Certain domains such as trauma, allied neurosciences, and basic neuroscience research were underrepresented.

Moyamoya disease: Experience with direct and indirect revascularization in 70 patients from a nonendemic region.

INTRODUCTION: Moyamoya disease (MMD) is a chronic cerebrovascular disease characterized by stenosis/occlusion of bilateral terminal internal carotid arteries with the development of collaterals at base of the brain. We describe our experience of treating 70 patients (133 involved hemispheres, 108 hemispheres operated) surgically. PATIENTS AND METHODS: Surgically treated patients with MMD from 2006 to 2014 were reviewed retrospectively. There were 70 patients (54 pediatric, 36 females, range 2-46 years). Seven had a unilateral disease. One hundred and eight of 133 hemispheres underwent surgery; 58 underwent combined revascularization (superficial temporal artery - middle cerebral artery bypass and encephalo-duro-arterio-myo-synangiosis [EDAMS]); and, 50 underwent an indirect revascularization (EDAMS). 17/23 adult brain hemispheres and 41/85 pediatric hemispheres underwent combined revascularization. RESULTS: The median follow-up was 15.9 months (range 3-62 months). The mean modified Rankin scale score at presentation and follow-up were 2.27 ± 1.034 and 1.80 ± 1.269, respectively. There was an overall significant improvement in the clinical status in the operated patients (P < 0.001) at follow-up. The clinical improvement (admission to follow-up) was better in pediatric patients compared to the adults (P < 0.001 vs. 0.769). The combined revascularization gave better clinical improvement than the indirect one (P = 0.024 vs. 0.0312). There were three postoperative strokes and one death. The morbidity rate was 2.8%, and the mortality rate, 1.4%. Other patients were symptom-free at the latest follow-up. Angiographic outcome did not statistically correlate with age, anastomosis type, or Suzuki grade, though there was trend toward better angiographic outcomes in patients who underwent a combined revascularization. CONCLUSION: Both the combined and indirect revascularization procedures are effective in treating MMD. Pediatric patients had a better clinical improvement after surgery than the adult patients . Patients undergoing combined revascularization had a better clinical status compared to those who only underwent indirect revascularization. Combined revascularization surgery should be the surgical strategy in all age groups as it is feasible in a significant proportion of pediatric patients too.

Microsurgical treatment of distal anterior cerebral artery aneurysms: A 25 year institutional experience.

INTRODUCTION: We present a retrospective study of distal anterior cerebral artery (DACA) aneurysms operated at our institute. MATERIAL AND METHODS: From 1988 to 2013, a total of 132 DACA aneurysms were managed surgically. The retrospective data of these patients was collected and analysed. RESULTS: They comprised 6.2% of all 2137 aneurysms operated during the same period. The mean age at presentation was 48.3 years (range: 24-77 years) and the male: female ratio was 1:2. The notable symptom in 114 (86.4%) patients was headache, in 94 (71.2%) was loss of consciousness, in 25 (18.9%) was seizures, and in 17 (12.9%) was limb weakness. There were 99 (75%) patients in World Federation of Neurosurgical Societies (WFNS) grade <3 at admission. On plain computed tomography (CT) scan, intracerebral hemorrhage was seen in 49 (37.1%) and intraventricular hemorrhage in 23 (17.4%) patients. The most common site of aneurysm was the pericallosal (A3 segment) artery noted in 65 (49.2%) patients. Multiple aneurysms were observed in 16 (12.1%) cases. The mean timing of surgery from the first ictus was 17.8 days. The delay was due to a late referral, poor general condition, recurrent bleeding, and worse WFNS grade at presentation. Aneurysms were operated through the following approaches: parasaggital craniotomy in 61 (46.2%), bifrontal craniotomy in 64 (48.5%), and frontotemporal craniotomy in 7 (5.3%). Aneurysms could be successfully clipped in 93.2% of the cases. Postoperative mortality was 8 (6%). The follow-up data was available for 83 (62.9%) patients. The mean duration of follow-up was 15.1 months (1-70 months), with more than 41 (31%) patients having a follow-up of more than 6 months. A favorable outcome (good recovery or moderate disability) was seen in 71 (85.5%) cases. CONCLUSIONS: A meticulous attention to the surgical technique provides gratifying results in DACA aneurysms even in patients who present initially in a compromised clinical status.

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

BACKGROUND: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene. CASE PRESENTATION: We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway. CONCLUSIONS: This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.

Lack of IDH1 mutation in astroblastomas suggests putative origin from ependymoglial cells?

Astroblastomas are extremely rare neuroepithelial tumors of uncertain histogenesis, affecting children and young adults, and constitute a new addition to the WHO 2000 classification of CNS tumors. We report the largest series of nine cases diagnosed in a single institute over the last 13 years and review published literature. Mean age at presentation was 12.8 years (range: 22 months to 27years). Seven out of nine cases were supratentorial (frontal/frontoparietal - three, parieto-occipital - three, parafalcine - one), one was intraventricular and another was optochaismatic/suprasellar. Five cases were high grade (anaplastic) astroblastomas with Ki-67 labeling index of 8-10%. Immunohistochemical and ultrastructural evidence suggesting origin from cells intermediate between ependymocytes and astrocytes is presented. The histogenetic origin of these tumors remains speculative. But the lack of Isocitrate dehydrogenase 1 (IDH1) mutation as detected by immunohistochemistry in this study, which is similar to ependymomas supports putative origin from ependymoglial cells. Out of the nine cases, recurrence was noted in one case, 12 months after gross total resection with progression to high grade in the recurrent tumor. There is no recommended treatment protocol due to the rarity of this entity and prognostic factors are yet to be established.

Intraventricular Astroblastoma in an Infant: A Case Report and Review of the Literature.

Astroblastomas are rare intracranial tumours of uncertain origin and are commonly present in the supratentorial compartment. Astroblastomas often affect children and young adults. Their occurrence in an intraventricular location, in an infant, is extremely uncommon. We describe a 1-year-old boy who presented with features of raised intracranial pressure. An MRI scan revealed an intralateral ventricular tumour. Complete excision was performed. Its histopathological examination revealed features consistent with astroblastoma. A follow-up MRI scan after 9 months did not show any residual tumour, and the patient was followed up without any adjuvant therapy. The radiological and histopathological characteristics of this tumour are described in our report.

Rare pathologies in the posterior third ventricular region in children: case series and review.

Tumors of the pineal region in children often belong to 2 categories, namely germ cell tumors and pineal parenchymal tumors. Very rare pathologies have previously been reported in this region. Most of these tumors may be similar radiologically, while their management differs. The present series reports 2 children with pineal region tumors, each one being a rare pathological entity by itself, namely an embryonal tumor with abundant neuropil and true rosettes (ETANTR) and a rosette-forming glioneuronal tumor (RGNT). Very few such cases in each pathology have been reported in the literature for the pediatric age group up to now. Our series consists of 2 children, both presenting with a raised intracranial pressure of short duration. Imaging revealed lesions in the pineal region with similar radiological features. Both ETANTR and RGNT demonstrated mild enhancement. The 2 patients underwent surgical decompression either by Poppen's approach (n = 1) or a supracerebellar infratentorial approach (n = 1). The patient with ETANTR was advised radiotherapy, while the child with RGNT was advised a regular follow-up. This series presents some rare pathologies which can occur in the posterior third ventricular region with similar radiological features. Management differs based on the histology of the case.

Treatment of unruptured intracranial aneurysms-Current perspective.

Unruptured intracranial aneurysms (UIAs) present a unique challenge due to the lack of a clear understanding of their natural history and outcome. As the treatment of UIAs is aimed at preventing the possibility of rupture, the immediate risk of treatment must be weighed against the risk of rupture in the future. As such, no specific guidelines exist for a large proportion of UIAs, and treatment is currently individualized. It is also of paramount importance that the physicians be aware of the recent advances in the therapy of UIAs. The present article focuses on the recent advances in the understanding of UIAs.

A to Z in neurointerventional surgery: A primer for residents.

Neurointerventional surgery has evolved rapidly over the last two-and-a-half decades. It is now the treatment of choice for many neurovascular conditions, and its techniques and indications are rapidly expanding. It is the need of the hour that residents in training programs should familiarize themselves with the basic concepts of neurointerventional surgery. There are no set guidelines regarding neuroendovascular training of residents in India. The current article provides an insight into the basic concepts of neurointerventional surgery for residents in training.

Anesthetic factors and outcome in children undergoing indirect revascularization procedure for moyamoya disease: An Indian perspective.

BACKGROUND: Moya Moya disease (MMD) is one of the most common cerebro-vascular diseases in children resulting in stroke. Surgical revascularization aims at improving the perfusion to the 'at-risk' ischemic brain. Several factors including peri-operative anesthetic related ones, affect the outcome in these children. This study was performed with the aim to explore the role of anesthetic techniques, pharmacological agents and perioperative management strategies on the neurological outcome following an indirect revascularization procedure for the treatment of MMD. MATERIALS AND METHODS: This was a retrospective chart review of pediatric indirect revascularization procedures for MMD during a three year period at a tertiary neurosciences hospital in southern India. Demographic details, disease characteristics and variables related to anesthetic management were obtained from the patient's charts and analyzed. The main outcome measure was occurrence of postoperative new neurological complications; and, the secondary outcome was length of hospital stay after surgery. RESULTS: Twenty-two children underwent thirty indirect revascularization procedures, of which four patients had new postoperative neurological complications. One child died due to bilateral cerebral infarcts following bilateral surgery as a single stage under the same anesthesia. Female gender and a higher opioid dose were associated with occurrence of postoperative neurological deficits. Younger age, prolonged anesthetic duration and occurrence of postoperative neurological deficits were associated with prolonged postoperative hospital stay. However, none of these factors were predictive of either an adverse neurological outcome or a prolonged hospital stay. CONCLUSION: In this study, anesthetic techniques or medications did not influence the occurrence of postoperative neurological deficits or prolonged hospital stay after an indirect revascularization procedure in children with MMD.

Operative nuances of excision of colloid cysts in septum pellucidum: a report of three cases.

Colloid cysts are common cysts are often located in the anterior third ventricle and septum pellucidum location is extremely rare. Cysts in septum pellucidum can be missed at surgery because of their unusual location. We describe three patients with colloid cysts in the septum pellucidum, with two in the cavum septum pellucidum. Various surgical implications of this unusual location are enumerated.

An Eye Opener for a Blinding Disease-Orbital Infarction Syndrome.

Orbital infarction syndrome (OIS) is a disease of rare occurrence owing to the rich orbital vascular anastomotic network. We describe a case of a middle-aged female who presented with an acute left middle cerebral artery (MCA) territory infarct with left terminal internal carotid artery and MCA occlusion, underwent emergency mechanical thrombectomy, and developed painful loss of vision shortly after diagnosed as OIS based on clinical and radiological findings. The rarity and severity of OIS, especially in the setting of mechanical thrombectomy, warrant radiologists to be aware of this entity to ensure preventive measures or aid in prompt diagnosis to institute timely treatment.

Transarterial treatment of direct carotico-cavernous fistulas with coils and Onyx.

INTRODUCTION: The purpose of this study was to evaluate the role of combination of liquid embolic agent ethylene vinyl alcohol copolymer (Onyx) and detachable coils in the treatment of direct carotico-cavernous fistulas (CCFs). METHODS: We prospectively collected clinical and radiological data of all patients who underwent embolization of direct CCFs at our institution over a period of 21 months. The clinical parameters, angioarchitecture, presence of cortical venous reflux, volume of Onyx used, number of coils used, extent of embolization and complications were recorded. RESULTS: A total of 21 consecutive patients (18 men and 3 women, 14 to 48 years) with direct CCF underwent embolization with a combination of coils and Onyx. Embolization was done through the arterial route in all cases. Complete obliteration of the fistula was achieved in 19 of 21 cases. Cast embolization in middle cerebral artery occurred in one patient; however, the cast was completely retrieved with Solitaire device, and the patient did not have any neurological deficit. All completely treated patients reported relief of symptoms at varying intervals. At 6-month follow-up, none of the patients with complete occlusion of the fistula showed any recurrence. CONCLUSION: The adjuvant use of Onyx with detachable coils in direct CCF through the arterial route is a safe and effective method for embolization with immediate and complete occlusion of the fistula. To the best of our knowledge, this is the first case series of demonstration of arterial use of Onyx with coils in the treatment of direct CCFs.