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Familial amyloidotic polyneuropathy (FAP) is often misdiagnosed as other neuropathic illnesses.To highlight the diagnostic "odyssey" in three families of Indian origin with FAP.Cross-sectional, hospital-based study.Clinical, radiological, and histological features as well as causes for delayed diagnosis were analyzed in genetically confirmed patients with FAP.Descriptive.Age at evaluation ranged from 24 to 42 years and symptom duration from 1 to 10 years. Referral diagnoses included: (i) in patients 1 and 2-familial dysautonomia, Shy-Drager syndrome, and spino-cerebellar ataxia with seizures, (ii) in patient 3-chronic inflammatory demyelinating polyradiculoneuropathy, and (iii) in patient 4-porphyria. In addition, patients 1 and 2 developed leptomeningeal involvement that was mistaken for tubercular meningitis. Reasons for missed diagnosis included: clinician's lack of awareness, not paying sufficient attention to family history, presence of laboratory distractors such as elevated urinary porphyrins, lack of meticulous search for amyloid in the biopsy, and not performing specific stain for amyloid viz. Congo red. Evidence of amyloid in histological studies of nerve and skin supported by genetic variations in transthyretin gene clinched the diagnosis. The variants identified in our cohort included p.Gly73Glu, p.Val71Ala, and p.Val50Met.Lack of awareness and meticulous work-up by clinicians and pathologists contributed to delayed diagnosis of FAP. It is important to establish an accurate diagnosis as these patients may be candidates for upcoming therapies.

Dumbbell trigeminal schwannoma is the second most common type of intracranial schwannomas.Herein, we are describing and presenting a video of left trigeminal dumbbell schwannoma with a predominant posterior fossa component (modified Samii's grade C1), operated through left Retromastoid Intradural Suprameatal Approach (RISA). We demonstrate a step by step technique of a previously defined procedure for educational purpose.The patient was placed in the right lateral position, and left retromastoid craniotomy was done. Dura was opened based on transverse and sigmoid sinus to expose tumors in the suprameatal region. The tumor removed piecemeal under the microscope, and later endoscope was introduced to identify and remove the residual tumor in the superolateral part of Meckel's cave.The patient had an uneventful recovery.Trigeminal schwannoma with a predominantly posterior fossa component can be excised through retromastoid sub-occipital craniotomy. Endoscopic-assisted microsurgery should be considered in all skull base tumors. Aim for complete excision, but safe maximal resection with GKRS for residual can be considered in difficult cases.

Background: The COVID-19 pandemic has compelled countries to impose lockdowns to curb the spread. As a result of the lockdown and need for health care services to cater to acute diseases on priority, patients with chronic illnesses such as Parkinson's disease (PD) may be facing several difficulties. Aims: This study aimed to explore the effects of prolongation of lockdown on patients with PD by evaluating possible problems faced during a lockdown and worsening of symptoms if any. Materials and Methods: One hundred patients with PD and their caregivers were contacted. Results: We observed a significant increase in problems faced due to this pandemic, specifically, the inability to access health care, and difficulty procuring medication. Patients also reported worsening of motor symptoms. Conclusions: The present findings highlight the need for health care systems to consider a plan of action for chronic neurological diseases like PD, which are worsening in the absence of regular hospital visits.

Neurophysiological monitoring assesses the functional integrity of the brainstem by using monitoring and mapping techniques. We report an operated case of a pontomedullary lesion in a patient who developed central hypoventilation postoperatively. The intraoperative use of neurophysiological and cardiovascular monitoring was unable to predict/prevent this hypoventilation. We describe the inherent limitations of monitoring the respiratory system, including spontaneous respiration. Moreover, we suggest the novel application of diaphragmatic motor evoked potential for real-time monitoring of respiratory pathways during brainstem surgeries.

Endothelial nitric oxide synthase gene (eNOS) polymorphism is an association with cerebral aneurysm formation, rupture, and vasospasm and plays a role in the a functional outcome.The aim of the study was to evaluate the role of eNOS gene polymorphism and further assess the predictors of outcome in the aneurysmal subarachnoid hemorrhage (aSAH). A prospective case-control study was conducted from 2009 to 2012 among those who presented with aSAH. A serum sample was collected from aSAH patients along with age and sex-matched healthy controls. The frequency of polymorphism of eNOS gene and other factors (demographic and aneurysmal) were correlated with functional outcome at six month of follow-up.100 patients with aSAH and 100 healthy controls were enrolled in the cohort. The mean age of the patient group was 51.61 years and control group was 45.81 years with a male:female ratio of 1:1.38 and 1:1.08 for patients and controls, respectively. Among all eNOS polymorphisms, 4BB (65%) 24-VNTR, TT (71%) of T-786C, and GG (71%) of G947T were the most common and frequency was similar in the control group. The occurrences of hypertension, smoking, diabetes were 32%, 37%, and 7% respectively in the patient group. Maximum patients were in WFNS grade 1 (53%) followed by 23% grade 2 and only 10% in grade 4. Fisher grade 3 (57%) was the most common followed by Fisher grade 4 (28%). Most aneurysms (97%) were in anterior circulation. 83% of the aneurysms were clipped and 10% underwent coiling. Size-wise most of the aneurysms were in the middle group (6-9 mm) followed by bigger group (10 mm) (37%); only 6% aneurysms were in the small aneurysm (6 mm) group. 33% of the patients had evidence of vasospasm. TT of G894T polymorphism (60%) had the highest incidence of vasospasm. Univariate analysis showed smoking (OR: 3.19, CI: 1.19-8.84, P = 0.01), 4AA (OR: 12.15, CI: 1.13-624.9, P = 0.03) variety of 24-VNTR polymorphism, CC (OR: 15.39, CI: 1.60-762.8, P = 0.01) variety of T786C polymorphism, Fisher grade 4 (OR: 3.43, CI: 1.24-9.68, P = 0.01), WFNS grade (poor vs. good) (OR: 3.42, CI: 1.17-10.12, P = 0.02), vasospasm (OR: 3.84, CI: 1.42-10.75, P = 0.006), intraoperative rupture (OR: 4.77, CI: 1.55-15.27, P = 0.004) were significantly related with unfavorable outcome at 6 months follow-up. In regression analysis, smoking (CI: 0.06-0.69, P = 0.01), Fisher grade 4 (CI: 0.09-1.00, P = 0.05), and intraoperative rupture (CI: 0.05-0.89, P = 0.03) were correlated with an unfavorable outcome at 6 months follow-up.The eNOS gene polymorphism, smoking, clinical grade (WFNS), Fisher grade, intraoperative rupture, and vasospasm play a role in functional outcome after the treatment of cerebral aneurysms.

Background: Reflected image processing is a unique brain function and its abnormalities result in problems of localizing, recognizing the images, and utilizing this information in everyday life. Objectives: The aim of this study was to characterize clinical and neuropsychological profiles and to identify the probable neural substrate for this phenomenon in major cognitive disorder. Materials and Methods: We conducted a prospective study from February 2015 to May 2017 in patients with Major Cognitive Disorder (MCD, DSM-5 criteria). All patients were tested for problems in reflected image processing using the detailed protocol after ethical approval of the institute and consent. They also underwent a detailed neuropsychological evaluation, biochemical tests and neuroimaging (structural, diffusion, and resting-state functional MRI) as per established protocol. Results: Of the 18 patients, 11 had mirror agnosia (MA), 5 had mirror image agnosia (MIA) and 2 had both. MRI of MA patients showed parietal atrophy and whereas diffuse pattern of atrophy was seen with MIA. In the MA group, the left superior longitudinal fasciculus showed significantly greater fractional anisotropy and the left angular gyrus showed increased functional connectivity with left anterior cingulate, left dorsolateral prefrontal and bilateral posterior cingulate regions. Conclusion: Mirror image processing defects were not related to the type of MCD, severity or pattern of neuropsychological dysfunction. There are structural and functional alterations in localized regions as well as both hemispheres. Therefore, it is more likely to be a network disorder, irrespective of the MCD type or severity.

Plain computed tomography (CT) of the brain is an important first-line investigation of choice in an acute neurologic setup. Unless clinically suspected concealed areas like the confluence of venous sinuses often go unnoticed. Diagnosing anemia, thrombosis, or polycythemia correlating the CT attenuation values might prove to be fruitful in early patient management where the mode of varied clinical presentations causes a clinical dilemma.1) To determine the objective correlation between CT attenuation of the cerebral venous sinus and hemoglobin (Hb) as well as hematocrit (HCT) value and 2) to detect anemia from measuring venous sinus attenuation.An exploratory study design of 200 patients, who had plain CT of the head and Hb and HCT levels obtained within 24 h of the scan.Two-tailed unpaired t-test was used to test the difference between two independent samples. Correlation and regression analyses were used to assess the correlation between two quantitative variables.A significant correlation was observed between the Hb-Hounsfield unit (HU) and HCT-HU. The simple linear regression model revealed that HU (P value0.001) was significantly correlated with Hb and the regression model was, Hb = 2.1 + 0.2 × HU. Similarly, HU (P value0.001) was significantly correlated with HCT and regression model was HCT = 6.2 + 0.7 × HU.Objective attenuation values of dural sinuses on plain CT can be positively correlated with Hb and HCT values. Considering the cutoff of 35.5 HU, we were able to show the specificity of 100% for the detection of anemia.

Basilar artery dissections are rare events which present with subarachnoid hemorrhage (SAH), brain ischemia, and usually have a fatal outcome. Few case reports of mycotic dissections are published in literature. We report a case of a young male who underwent surgical treatment for post-traumatic CSF rhinorrhea. He presented 3 years later with signs of bacterial meningitis. During medical management with antibiotic therapy, he developed basilar artery aneurysm in a span of 2 days, had subarachnoid hemorrhage and deteriorated. CSF culture grew alpha hemolytic streptococci. Despite medical management, he developed brain stem infarcts and succumbed. This report highlights a rare fatal complication of mycotic dissecting aneurysm of the basilar artery following meningitis, which developed acutely in hospital, while on treatment. Antibiotic therapy had not altered the course of disease. It is advisable to investigate for presence of ruptured mycotic aneurysms or dissection in cases of bacterial meningitis leading to SAH.

Background: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare disorder; there is limited experience regarding its clinical course and therapeutic response. Aims and Objectives: To describe the clinical profile, investigations, and therapeutic outcome in pediatric OMAS. Patients and Methods: Fourteen children (age: 27.1 ± 7 months; male: female = 1:2.3) suffering from OMAS seen over a period of 10 years (2006–2015) were included in the study. Their clinicodemographic profile, investigations, therapeutic outcome at follow-up, and relapses were reviewed. Results: Ten children reported antecedent events (respiratory infection: 7; gastrointestinal infection: 1; vaccination: 2). The most common referral diagnosis was acute cerebellitis (n = 8). Hypotonia (n = 9), abnormal behavior (n = 10), and neuroregression (n = 6) were also the frequent manifestations. Brain magnetic resonance imaging, cerebrospinal fluid, and urinary vanillylmandelic acid were normal in all the patients. Seven patients had an underlying tumor (abdomen: 4; thorax: 2; neck: 1) detected by ultrasound (n = 2/14), computed tomography (CT) (n = 6/12), and fluorodeoxyglucose - positron emission tomography (n = 2/2). CT scan identified the tumor in 2 patients where metaiodobenzylguanidine scintigraphy was negative. All patients received steroids for 22.3 ± 20 months (3 months to 5 years). Eight required prolonged immunomodulation (>12 months). Complete remission after follow-up of 31.3 ± 19 months (7 months to 5 years) was noted in 5 patients, whereas the rest had persisting behavioral and cognitive abnormalities. Relapses were noted in 6 patients related to intercurrent infections (n = 5) and discontinuation of steroids (n = 1). The patients presented with isolated symptoms of the full-blown syndrome during their relapses. Conclusion: OMAS in children runs an indolent course requiring careful monitoring and long-term immunomodulation. An abnormal behavior is common and the outcome is variable.

While oxidative stress (OS) may be one of the crucial factors determining the initiation and progression of Parkinson's disease (PD), its correlation with gray matter (GM) atrophy is not known.To determine the GM volume (GMV) changes using voxel-based morphometry (VBM) and correlation with OS marker serum malondialdehyde (MDA) in PD.Seventy-two patients with PD were clinically evaluated and underwent magnetic resonance imaging (MRI) on a 3T MRI scanner using a 32-channel head coil. Lipid peroxidation product MDA levels were measured by spectrophotometry. MDA levels and regional GM differences using VBM were compared with 72 healthy controls.The mean age of the patients was 51.3 ± 10.6 years and that of controls was 50.8 ± 10.4 years. The mean age of onset of symptoms in PD was 45.2 ± 11.3 years. In PD, serum MDA level was significantly higher than that in controls (0.592 ± 0.89 μmol/l vs. 0.427 ± 0.055 μmol/l; P0.0001). Compared to controls, patients had greater regional GM atrophy in all the brain lobes (P0.001, uncorrected). A significant positive correlation was found between GMV and MDA in the caudate nucleus (CN) and posterior cingulate gyrus (PC) in the patient group (P0.001, uncorrected).We observed GM atrophy in all major brain lobes of patients when compared to controls. Only in the patient group, a significant positive correlation was observed in CN and PC with MDA. These findings suggest that, even though the whole brain is affected in PD, some of the non-substantia nigra regions of the brain, such as CN, may have some differential compensatory mechanism, which are preserved from oxidative damage.

Objective: Endothelial nitric oxide synthase gene (eNOS) polymorphism is an association with cerebral aneurysm formation, rupture, and vasospasm and plays a role in the a functional outcome. Patients and Methods: The aim of the study was to evaluate the role of eNOS gene polymorphism and further assess the predictors of outcome in the aneurysmal subarachnoid hemorrhage (aSAH). A prospective case-control study was conducted from 2009 to 2012 among those who presented with aSAH. A serum sample was collected from aSAH patients along with age and sex-matched healthy controls. The frequency of polymorphism of eNOS gene and other factors (demographic and aneurysmal) were correlated with functional outcome at six month of follow-up. Results: 100 patients with aSAH and 100 healthy controls were enrolled in the cohort. The mean age of the patient group was 51.61 years and control group was 45.81 years with a male:female ratio of 1:1.38 and 1:1.08 for patients and controls, respectively. Among all eNOS polymorphisms, 4BB (65%) 24-VNTR, TT (71%) of T-786C, and GG (71%) of G947T were the most common and frequency was similar in the control group. The occurrences of hypertension, smoking, diabetes were 32%, 37%, and 7% respectively in the patient group. Maximum patients were in WFNS grade 1 (53%) followed by 23% grade 2 and only 10% in grade 4. Fisher grade 3 (57%) was the most common followed by Fisher grade 4 (28%). Most aneurysms (97%) were in anterior circulation. 83% of the aneurysms were clipped and 10% underwent coiling. Size-wise most of the aneurysms were in the middle group (6–9 mm) followed by bigger group (>10 mm) (37%); only 6% aneurysms were in the small aneurysm ( Conclusion: The eNOS gene polymorphism, smoking, clinical grade (WFNS), Fisher grade, intraoperative rupture, and vasospasm play a role in functional outcome after the treatment of cerebral aneurysms.

Surgery for drug resistant epilepsy (DRE) with focal cortical dysplasia (FCD) often requires multiple non-invasive as well as invasive pre-surgical evaluations and innovative surgical strategies. There is limited data regarding surgical management of people with FCD as the underlying substrate for DRE among the low and middle-income countries (LAMIC) including India.The presurgical evaluation, surgical strategy and outcome of 52 people who underwent resective surgery for DRE with FCD between January 2008 and December 2016 were analyzed. The 2011 classification proposed by Blumcke et al., was used for histo-pathological categorization. The Engel classification was used for defining the seizure outcome. The surgical outcome was correlated with the preoperative clinical presentation, video encephalogram (VEEG) recording, magnetic resonance imaging (MRI), invasive monitoring, surgical findings as well as histopathology and the quality of life in epilepsy (QOLIE)- 89 scores.Fifty-two patients underwent resective surgery for FCD (mean age at onset of seizure: 7.94 ± 6.23 years; duration of seizures prior to surgery: 12.95 ± 9.56 years; and, age at surgery: 20.88 ± 12.51 years). The following regional distribution was found; temporal-24 (language-13), frontal-15 (motor cortex- 5), parietal-5 (sensory cortex-4), occipital-1 and multilobar-7. Forty-seven percent of the cases had FCD in the right hemisphere and 53% had FCD in the left hemisphere. Invasive monitoring was performed for identification of the epileptogenic zone (EZ) as well as eloquent cortex in 7 cases and an intra-operative electro-corticography (ECoG) was used in 32 cases. Histopathology revealed the following distribution; FCD IA-4, IB- 1, IC-5, IIA-8, IIB-18, IIIA-13, IIIB -1, IIIC-1 and IIID-1. After a median follow up of 3.7 years after surgery, 84% of patients had Engel's Ia outcome. QOLIE-89 scores improved from 38.33 ± 4.7 (31.14-49.03) before surgery to 75.21 ± 8.44 (56.49-90.49) after surgery (P0.001). The younger age of the patient (20 years) at surgery (P = 0.013), a lower pre-operative score (9) on seizure severity scale (P = 0.012), focal discharges without propagation on ictal VEEG (P0.001), absence of acute post-operative seizures (P0.001) and Type II FCD (P = 0.045) were the significant predictors for a favorable seizure outcome.Surgical management of people with DRE and FCD is possible in countries with limited resources. Meticulous pre-surgical evaluation to localize the epileptogenic zone and complete resection of the focus and lesion can lead to the cure or control of epilepsy; and, improvement in the quality of life was observed along with seizure-free outcome.

Objective: In this prospective study conducted over 2 years, 300 nonconsecutive cases of autosomal recessive limb girdle muscular dystrophies (AR-LGMD) were characterized, based on phenotypic features, biochemical findings, electrophysiological studies, muscle immunohistochemistry (IHC), and western blot (WB) analysis. Methods: Muscle biopsy was performed in 280 index cases. 226 biopsies were subjected for IHC, and, 176 of these for WB analysis. Results: A total of 246 patients were finally analyzed. This figure included 20 affected siblings. LGMD2B was the most common form and comprised of 33.3% (n = 82) of the entire cohort. This was followed by alpha-dystroglycanopathies with 61 (24.79%) patients (LGMD2I in 15, 2K in 10 and combined deficiency of both in the remaining). LGMD 2C-F was present in 35 (14.23%) cases and LGMD2A in 22 (10.2%) cases, and were identified by routine WB, densitometry method and autocatalytic assay. LGMD2G was present in 8 patients (3.25%), and LGMD2H and 2J in 2 cases each, respectively. Conclusions: For the first time, we have identified patients with LGMD2G, 2H, 2I, and 2K by the WB technique. These may be the common forms of autosomal recessive (AR)-LGMD's among Indian patients and need identification for prognostication and appropriate counseling. Although not a nationwide study, our data is sufficient to provide information about the relative proportions of various LGMD2 subtypes in India. Diagnosing LGMD2 based on classical clinical features, IHC and WB is fairly sensitive and specific; however, further genetic studies are required to confirm the diagnosis.