Pituitary Dysfunction in Idiopathic Intracranial Hypertension: An Analysis of 80 Patients.

BACKGROUND: Empty sella is a commonly described imaging entity in patients with idiopathic intracranial hypertension (IIH). Though menstrual and hormonal disturbances have been associated with IIH, available literature lacks systematic analysis of pituitary hormonal disturbances in IIH. More so, the contribution of empty sella in causing pituitary hormonal abnormalities in patients of IIH has not been described. We carried out this study to systematically assess the pituitary hormonal abnormalities in patients with IIH and its relation to empty sella. METHODS: Eighty treatment naïve patients of IIH were recruited as per a predefined criterion. Magnetic resonance imaging (MRI) brain with detailed sella imaging and pituitary hormonal profile were done in all patients. RESULTS: Partial empty sella was seen in 55 patients (68.8%). Hormonal abnormalities were detected in 30 patients (37.5%), reduced cortisol levels in 20%, raised prolactin levels in 13.8%, low thyroid-stimulating hormone (TSH) levels in 3.8%, hypogonadism in 1.25%, and elevated levels of gonadotropins were found in 6.25% of participants. Hormonal disturbances were independent and were not associated with the presence of empty sella (p = 0.493). CONCLUSION: Hormonal abnormalities were observed in 37.5% patients with IIH. These abnormalities did not correlate with the presence or absence of empty sella. Pituitary dysfunction appears to be subclinical in IIH and responds to intracranial pressure reduction, not requiring specific hormonal therapies.

Comparison of efficacy of plasma exchange versus intravenous immunoglobulin as an add-on therapy in acute attacks of neuromyelitis optica spectrum disorder.

INTRODUCTION: Plasma exchange (PE) is considered a Category II option for the treatment of acute attacks and relapse cases of neuromyelitis optica spectrum disorder (NMOSD). However, neurologists are also considering intravenous immunoglobulins (IVIg) as an add-on therapy for this disorder. AIMS: The aim of this study is to evaluate the efficacy of PE in acute attacks of NMOSD when compared with IVIg, in terms of improvement in the Expanded disability status scale (EDSS) and activities of daily living (ADL) scale score and levels of anti-Aquaporin P4 (AQP4) antibody in seropositive patients. METHODS: We enrolled 43 NMOSD patients in two groups: Group 1 (n = 29) received steroids and PE, and Group 2 (n = 14) received steroids with IVIg. The baseline EDSS and ADL scores were recorded and compared with scores at the end of therapy, 4 weeks, and 3 months after. Also, anti-AQP4 antibody was measured at baseline and post-therapy in seropositive patients of both groups. RESULTS: We observed a significant difference in EDSS (p = 0.00) and ADL score (p = 0.00) at day 10 and 3 months in both groups. However, no significant difference in EDSS, as well as ADL score from baseline (p = 0.83; p = 0.25) to 3 months (p = 0.85; p = 0.19), was observed when delta change of score at 3 months was compared across the two groups (p = 0.39; p = 0.52). We observed improved visual acuity in both groups with mild improvement in findings of magnetic resonance imaging at 3 months. We observed a significant decline in AQP4 antibody concentration (at day 10) in group 1 seropositive patients (p = 0.013) with improved EDSS (p = 0.027) and ADL scores (p = 0.026) of these patients. CONCLUSIONS: PE should be considered as a choice of an add-on therapy in anti-AQP4 antibody-positive NMOSD patients compared with IVIg as it is more effective in reducing antibody concentrations.

Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea.

A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.

The Neuro-Ophthalmology of Tuberculosis.

Tuberculosis (TB) is a global health concern and central nervous system (CNS) TB leads to high mortality and morbidity. CNS TB can manifest as tubercular meningitis, tuberculoma, myelitis, and arachnoiditis. Neuro-ophthalmological involvement by TB can lead to permanent blindness, ocular nerve palsies and gaze restriction. Visual impairment is a dreaded complication of tubercular meningitis (TBM), which can result from visual pathway involvement at different levels with varying pathogenesis. Efferent pathway involvement includes cranial nerve palsies and disorders of gaze. The purpose of this review is to outline the various neuro-ophthalmological manifestations of TB along with a description of their unique pathogenesis and management. Optochiasmatic arachnoiditis and tuberculomas are the most common causes of vision loss followed by chronic papilloedema. Abducens nerve palsy is the most commonly seen ocular nerve palsy in TBM. Gaze palsies with deficits in saccades and pursuits can occur due to brainstem tuberculomas. Corticosteroids are the cornerstone in the management of paradoxical reactions, but other immunomodulators such as thalidomide and infliximab are being explored. Toxic optic neuropathy caused by ethambutol necessitates careful monitoring and immediate drug discontinuation. Cerebrospinal fluid diversion through ventriculo-peritoneal shunting may be required in patients with hydrocephalus in stage I and II of TBM to prevent visual impairment. Early diagnosis and prompt management are crucial to prevent permanent disability. Prevention strategies, public health initiatives, regular follow-up and timely intervention are essential in reducing the burden of CNS TB and its neuro-ophthalmological complications.

Serum Calcitonin Gene-Related Peptide Is Elevated in Patients With Migraine and Ophthalmoplegia.

BACKGROUND: There is ongoing debate about whether the oculomotor (III), trochlear (IV), or abducens (VI) nerve paresis in patients with migraine is directly attributable to migraine (ophthalmoplegic migraine [OM]) or is due to an inflammatory neuropathy (recurrent painful ophthalmoplegic neuropathy [RPON]). As migraine is associated with elevated serum calcitonin gene-related peptide (CGRP) levels, we studied serum CGRP levels among patients with OM/RPON to determine whether they are elevated during and between attacks. This is the first study assessing CGRP levels in the serum of patients with OM/RPON. METHODS: The aim of this case-control study was to assess serum CGRP levels in patients with ophthalmoplegia and a headache consistent with migraine according to ICHD-3 criteria. Serum CGRP levels were measured during the ictal and interictal phases in 15 patients with OM/RPON and compared with age-matched and sex-matched controls without migraine (12 patients). RESULTS: The median serum CGRP levels were significantly elevated ( P = 0.021) during the ictal phase (37.2 [36.4, 43.6] ng/L) compared with controls (32.5 [30.1, 37.3] ng/L). Serum CGRP levels during the attack correlated with the total duration of ophthalmoplegia. A CGRP level of 35.5 ng/L in the ictal phase of the attack had a sensitivity of 86.7% and specificity of 75.0% in diagnosing a patient with OM/RPON. CONCLUSIONS: Elevated serum CGRP levels during the ictal phase of OM/RPON favor migraine as the underlying cause of episodic headache with ophthalmoplegia.

Feasibility and Efficacy of Telephone Based Follow-up in Patients with Headache - A Longitudinal Cohort Study.

BACKGROUND: Chronic headache greatly affects the quality of life and also constitutes a significant burden on the health system. OBJECTIVE: The objective of this study was to evaluate the feasibility of telephone-based follow-up in a cohort of headache patients in India. MATERIALS AND METHODS: This was a longitudinal cohort study of patients with episodic headache with one physical visit in the neurology outpatient services in the last year. Two neurologists conducted the telephone follow up (TFU) of included patients 12 weeks apart. We evaluated the following: (1) objective characterization of headache, (2) coexistent depression and anxiety, (3) patient satisfaction, (4) treatment adherence, and (5) changes in medications. RESULTS: A total of 214 out of 274 eligible patients were included in the cohort. The mean age was 31.74 ± 7.77 years (18-45), and 164 (77%) were females. Migraine without aura was the most common diagnosis in 159 (74%). The mean disease duration was 78.01 ± 70.15 months (8-360). Concurrent depression and anxiety were noted in 87 (40.6%) and 45 (21%) of the patients, respectively. There was a significant improvement in the headache frequency (23.82 vs. 1.06, P < 0.001), severity (7.21 vs. 2.62, P = 0.032), and Headache Impact 6-item score (58.12 vs. 38.01, P = 0.014) at baseline and second follow-up. The satisfaction level to TFU in the first and second interviews was 94.4% and 97.2%, respectively. CONCLUSION: Telephone-based follow-up is a feasible alternative for repeat outpatient consultation of headache patients.

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

BACKGROUND: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. OBJECTIVES: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported. METHODS: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review. RESULTS: PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. Early bladder overactivity was present in 71.9% of cases. Cognitive impairment affected 76.1% of cases and psychiatric features 87.1%, the latter being an isolated presenting feature in 20.1%. Parkinsonism was levodopa responsive but complicated by early, often severe dyskinesias. Five patients benefited from deep brain stimulation. Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident in only 28.1%. Presynaptic dopaminergic terminal imaging was abnormal in all where performed. Fifty-four PLA2G6 mutations have hitherto been associated with parkinsonism, including four new variants reported in this article. These are mainly nontruncating, which may explain the phenotypic heterogeneity of childhood- and late-onset PLA2G6-associated neurodegeneration. In five deceased patients, median disease duration was 13.0 years. Brain pathology in three cases showed mixed Lewy and tau pathology. CONCLUSIONS: Biallelic PLA2G6 mutations cause early-onset parkinsonism associated with dystonia, pyramidal and cerebellar signs, myoclonus, and cognitive impairment. Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonance imaging features, whereas brain iron deposition is not. Early, severe dyskinesias are a tell-tale sign. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Satisfaction and effectiveness of tele-medicine in follow-up of people with epilepsy in a resource-poor setting during COVID-19.

BACKGROUND: Effectiveness of different tele-medicine strategies varies in different medical conditions. Use of basic tele-medicine strategy like mobile health (m-health) can be an effective option in different medical conditions in a resource-poor setting. AIMS: To study effectiveness and satisfaction of tele-medicine among persons with epilepsy (PWE) in a developing nation during COVID-19 pandemic. METHODS: Persons with epilepsy aged 18 years or more who have attended epilepsy clinic at least once physically and were asked for regular follow-up were included. A cross-sectional telephonic survey was conducted to assess effectiveness of tele-medicine over past 1 year. Satisfaction was assessed by tele-medicine satisfaction questionnaire. RESULT: 31.9% of PWE have used tele-medicine facility in last 1 year and 58.2% were unaware of the availability of such a facility. Among those who utilized tele-medicine, 95.3% were able to explain their concerns satisfactorily during tele-consultation and change in prescription was done in 42.8%. None experienced any new adverse event. Overall, more than 95% were satisfied with tele-consultation and more than 80% wanted to use it again. CONCLUSION: Even basic tele-medicine strategies can be a very effective and satisfactory mode of follow-up for PWE in resource-poor settings. Steps should be undertaken to make people aware of the availability of such a facility.

Seronegative panencephalitis complicated by viral encephalomyelitis in a case of Good's syndrome - a neuropathological report.

BACKGROUND: The role of thymus in the immune cascade of the body is still under active clinical scrutiny. Meanwhile, there is an unravelling of myriad presentations of thymoma with effects on various organ systems. These effects arise both due to autoimmunity or a paraneoplastic process secondary to thymoma. However, an occasional patient can be a conundrum and may give no clue regarding the pathogenesis and etiology of its clinical profile. MATERIAL AND METHODS: We present an enigmatic case of a 30-year-old male presenting with superficial fungal infections followed by multiaxial neurological involvement against a background of thymoma. Extensive workup for bacterial, viral, autoimmune and paraneoplastic etiologies were negative. Thymectomy confirmed thymoma (Type AB) but failed to ameliorate the progression of symptoms. He developed recurrent episodes of severe sepsis which remitted with sensitive antibiotics only to reappear again. Immunological profile showed complete absence of peripheral circulating B-cells with reversal of CD4/CD8 ratio, findings compatible with Good's syndrome. Radiological findings showed only progressive brain atrophy without any hyperintensity. He was also treated with intravenous immunoglobulins but failed to respond with the same. RESULTS: Autopsy revealed features of panencephalitis (neuronophagia, neuronal loss, perivascular lymphocytic cuffing and microglial nodules) with virus particles detected ultrastructurally. Although the distinction between seronegative autoimmune encephalitis versus a viral encephalomyelitis often blurs histologically, we speculated viral encephalomyelitis to have happened toward the latter part of his long illness. To our knowledge, this is a case of Good's syndrome presenting with seronegative autoimmune panencephalitis superimposed with a viral infection.

Temporal lobe epilepsy with amygdala enlargement: A systematic review.

Temporal lobe epilepsy (TLE) with enlargement of the amygdala (AE) is a distinct clinical entity with contrasting clinical features from TLE with hippocampal sclerosis (HS). The objectives of this systematic analysis were to study the clinical characteristics and treatment outcome of people with TLE with AE. Pubmed, Embase, Cochrane, Web of Science, Scopus, and Medline were searched using the keywords amygdala enlargement, temporal lobe epilepsy, epilepsy, and seizure in November 2020. We found 18 studies that satisfied the inclusion criteria. A total of 361 patients were included in this analysis. The mean age of onset was 36.2 years, and febrile seizure was uncommon compared to TLE with HS subjects. The type of aura and automatism was similar to TLE with HS, though less prevalent. Electroencephalography (EEG) was usually concordant with the side of AE. Anti-seizure medications (ASM), surgical, and immunotherapy were used in different studies. 86 patients underwent surgery with Engel I outcome in 69.7%. Histopathology of the resected samples was predominantly dysplasia and gliosis. A group of patients that responded well to immunotherapy with subsequent reduction of amygdala volume (AMV) purported an autoimmune etiology of AE. Heterogeneity was the main drawback that prevented comparability among the studies. The methods of measurement of AMV also differed widely in the included studies, and standardization of its method is still lacking. This analysis suggests TLE with AE as a distinctive group of patients either due to a developmental anomaly or autoimmune etiology.

Knowledge, attitude, and barriers for epilepsy surgery: A survey among resident doctors in a tertiary care center in India.

BACKGROUND: Knowledge and attitude of doctors toward epilepsy surgery are essential for management and timely referral of people with Drug refractory epilepsy (DRE). This study aimed at analyzing knowledge, attitude, and barriers for epilepsy surgery among medical residents. METHODS: A survey consisting of 16 statements in a Likert-like scale and one open-ended question was conducted among residents joining different postgraduate courses after MBBS (GR) and super-specialty courses after MD (PG) within 2 months of joining the institute. PGs with a postgraduate degree in internal medicine, pediatrics, or psychiatry were included. Demographic data were analyzed using descriptive statistics. Difference in response to the survey statements was analyzed using independent t test. RESULTS: 115 participated in the survey of which 97 were GRs. Participants belonged to 22 different states and 3 were foreign nationals. 45% of participants did not know the definition of DRE. There was a difference of opinion among GRs and PGs regarding surgery as a treatment option for epilepsy and feasibility of epilepsy surgery in children (p < .05). PGs were more confident in treating PWE and preferred to refer people with DRE to a higher center early (p < .05). Lack of knowledge was the commonest barrier for epilepsy surgery. CONCLUSION: A substantial number of participants lacked the basic knowledge of DRE and epilepsy surgery. Lack of knowledge was perceived to be the commonest barrier for epilepsy surgery. Dissemination of basic knowledge and development of protocols for identification and referral of people with DRE are the need of the hour.

Myoedema with pseudohypertrophic hypothyroid myopathy (Hoffman's syndrome).

Myoedema is an under-recognised neurological sign that can help the bedside diagnosis of metabolic or endocrine myopathies. Myoedema together with pseudo-hypertrophy make a likely diagnosis of hypothyroid myopathy, and its identification may avoid unnecessary investigations.

Causes and Outcomes of Patients Presenting with Diplopia: A Hospital-based Study.

Diplopia or double vision has various aetiologies and often presents to the ophthalmologist. The purpose of our study was to study in detail the aetiology, progression, and outcome in patients of diplopia presenting to the ophthalmology department of a tertiary care centre. In a prospective observational study, all patients presenting to the emergency services and the outpatient department of a tertiary care centre over a period of 1 year were recruited. One hundred and sixty patients who presented with diplopia with a mean age of 40 (range 7-76) years were included. There were 112 (70%) males and 48 (30%) females. The most common cause for binocular diplopia was vasculopathy in 43 (28.66%) followed by trauma in 37 (24.66%). In those less than 20 years decompensating heterophorias were most common and had the best prognosis. Traumatic causes were common in the age group 20-40 years and vascular in the >40 years age group. For all other aetiologies, elderly patients had more resolution than young patients (p = .04). Larger deviation at presentation, younger age group, and a history of trauma were associated with late recovery (p = .03. p = .04 and p = .04, respectively).

Screening for paroxysmal nocturnal hemoglobinuria (PNH) in patients presenting with cerebral sinovenous thrombosis (CSVT): Results of a FLAER based flowcytometry study in Indian patients.

Patients with paroxysmal nocturnal hemoglobinuria (PNH) may present with thrombosis at unusual sites, of which cerebral sinovenous thrombosis (CSVT) is one and screening for PNH is recommended in this condition. Though many patients diagnosed with PNH develop CSVT, it is unclear how many patients with PNH would present for the first time with thrombosis. We analysed the results of screening for PNH by flowcytometry in our patients with CSVT. The laboratory data of patients referred for thrombophilia and PNH testing in CSVT was examined to assess the frequency of PNH at presentation in these patients. FLAER and CD24 on granulocytes and FLAER and CD14 on monocytes respectively were used to screen the leucocytes for PNH by flowcytometry. The data for Protein C, S and Antithrombin deficiency, antiphospholipid antibodies and the Factor V Leiden mutation was examined and circumstantial risk factors were also assessed. Of the 180 cases of CSVT screened by flowcytometry for PNH, not a single case tested positive. Positivity for anti-phospholipid antibodies was the most common thrombophilic risk factor (5%). Pregnancy was the most common circumstantial risk factor. Our data on FLAER based flowcytometry in the North Indian population with CSVT suggests that PNH is not a common risk factor in our patients with thrombosis at this unusual site.

Atypical neurological manifestations of dengue fever: a case series and mini review.

BACKGROUND: In this mini review, we discuss some of the atypical neurological manifestations of dengue virus and attempt to bring them to attention to highlight the neurotropic property of the dengue virus. METHODS: Cases were chosen from retrospective hospital and outpatient records of all patients seropositive for dengue who attended the neurology referral. Seven patients have been chosen as illustrative examples of dengue-associated neurological involvement. We discuss the various central and peripheral nervous system involvement of patients and discuss the relevant findings in them. CONCLUSION: Through this case series, we wish to highlight that the dengue virus can affect the nervous system at various targets, using multiple mechanisms of pathogenesis to generate a plethora of presentations. Hence, it is vital to be aware of its presentations to be able to diagnose dengue and treat it accordingly.

Non-Arteritic Anterior Ischaemic Optic Neuropathy - Myths and Misconceptions: Experience from a Tertiary Care Centre in North India.

We prospectively evaluated 22 consecutive patients (24 eyes) suffering from non-arteritic anterior ischaemic optic neuropathy (NAION) at a tertiary care centre in Northern India. The mean age was 51.7 years. Visual loss on awakening was noticed only in three (12.5%) eyes. Six (27.3%) patients had headache while three (9.7%) patients had retro-orbital pain at the onset of visual loss. Peripapillary haemorrhages were seen in two (8.3%) eyes. At follow up, only one eye showed improvement in visual acuity. The results of our study suggest that NAION may not always present with the classic clinical picture. Accordingly, a high index of suspicion remains the key to correct diagnosis.

Special scenarios in the management of central nervous system aspergillosis: a case series and review of literature.

Aspergillus is a rare but important opportunistic pathogen to invade the central nervous system (CNS). It is a significant pathogen of not only immunocompromised but also immunocompetent patients. Its manifestations are pleiotropic, reflecting multiple mechanisms of pathogenesis and host interactions. Despite significant advances in diagnostic methods and therapeutic options, the mortality remains high. Several advances have been made in medications and surgical management, yet, current treatment practices lack uniformity. Patient woes are further heightened by the high costs of treatment and prolonged duration of therapy. In view of the challenging aspects of this disease, we present a short review of four challenging cases touching on the varied aspects of management of CNS aspergillosis covering pathogenesis, diagnostic pitfalls, surgical and medical options and evidence-based guidelines for the management of the same.

PGIMER, Chandigarh: A temple of holistic Neurology.

History helps us to become better students, judge wisely, understand change, and most importantly, it tells us who we are. It helps us to understand what happened, why it happened and what its ramifications are. Winston Churchill once said: "Study history, study history. In history lie all the secrets of statecraft." Here, we take this opportunity to pay our gratitude to our esteemed teachers who worked relentlessly for uplifting of the department of Neurology, PGIMER, Chandigarh; and, narrate chronicles of all those people who made this department reach the heights where it stands today.