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2021| May-June | Volume 24 | Issue 3
Online since
July 17, 2021
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ORIGINAL ARTICLES
Guillian--Barre' syndrome in patients with SARS-CoV-2: A multicentric study from Maharashtra, India
Megha C Dhamne, Rajesh Benny, Rakesh Singh, Amitkumar Pande, Pankaj Agarwal, Satish Wagh, Pradyumna Oak, Akshay Lakhotia, Yogesh Godge, Vyankatesh Bolegave, Darshan Doshi, Yogesh Patidar, Anil Venkatachalam, Bhavin Pujara, Sandeep Borse, Prashant Makhija, Satish Khadilkar
May-June 2021, 24(3):339-346
DOI
:10.4103/aian.AIAN_1303_20
Background:
Guillian--Barre' Syndrome (GBS) has been shown to be associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. The aim of our study was to study the clinical profile and outcomes of GBS in COVID-19 from the Western region of India, the State of Maharashtra.
Methods:
This was a retrospective, multicenter observation study from different hospitals in Maharashtra beginning from March 2020 until November 2020.
Results:
We report 42 patients with COVID-19 GBS. Mean age was 59 years (range, 24--85 years). 31/42 (73.8%) were men. GBS was the presenting symptom in 14/42 (33%), while six of them remained asymptomatic for COVID-19 despite positive SARS-CoV-2 on nasopharyngeal swab reverse transcriptase polymerase chain reaction. The median interval between COVID-19 and GBS was 14 days (SD + 11), with minimum of 1 and maximum 40 days. Clinical presentation was like that of typical GBS. Electrophysiological studies showed a predominant demyelinating pattern in 25/42 (59.5%). Inflammatory markers were elevated in 35/42 (83.3%) and 38/42 (90.5%) had an Abnormal high-resolution CT (HRCT) chest. 14/42 (33.3%) patients required a ventilator, with nine deaths. Intravenous immunoglobulin was the mainstay of treatment for GBS. Majority had a good outcome and were walking independently or with minimal support at discharge. In subgroup analysis, the postinfectious group had a better outcome than the parainfectious group.
Conclusion:
GBS in COVID-19 occurs as both parainfectious and postinfectious GBS. Parainfectious GBS needs more rigorous monitoring and may benefit from COVID-19 specific treatment. Routine screening for SARS-CoV-2 should be implemented in patients with GBS in view of the ongoing pandemic.
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CASE REPORTS
‘More than just skin in the game’. DADA2 autoinflammatory syndrome and stroke in the young
Ashin Varghese, Joe Thomas, Boby Varkey Maramattom
May-June 2021, 24(3):410-412
DOI
:10.4103/aian.AIAN_716_20
A 21-year-old man had a long-standing history of leg ulcers and hyperpigmention over the feet. Over a span of 8 months, he had an acute ischemic stroke followed by a basal ganglia hemorrhage. He was finally diagnosed with DADA2 syndrome after genetic sequencing. The implications of this new syndrome and its links to stroke in the young are presented in this article.
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ORIGINAL ARTICLES
Negative impact of vestibular suppressant drugs on provocative positional tests of BPPV: A study from the Western Part of India
Jayanti K Gurumukhani, Dhruvkumar M Patel, Sudhir V Shah, Mukundkumar V Patel, Maitri M Patel, Anand V Patel
May-June 2021, 24(3):367-371
DOI
:10.4103/aian.AIAN_413_20
Aims:
To study the impact of vestibular suppressant drugs (VSD) on provocative positional tests (PPT) in patients with benign paroxysmal positional vertigo (BPPV).
Settings and Design:
A prospective case-control observational study.
Materials and Methods:
Patients with a history suggestive of BPPV were tested for PPT. Patients with vertiginous symptoms and with nystagmus on PPT were classified as objective BPPV (O-BPPV, control group), while those without nystagmus with no alternate diagnosis were classified as subjective BPPV (S-BPPV, case group). Details of VSD treatment were noted in all the patients. In both groups, patients were instructed to discontinue VSD and were further assigned as the VSD and non-VSD subgroups. Patients were followed for 2 months with PPT every week. PPT positive patients were treated by vestibular rehabilitation maneuvers.
Statistics:
Student t-test with two-tailed, unpaired, was used for continuous scale and Chi-square test for categorical differences between the two groups.
Results:
295 consecutive BPPV patients were enrolled in the study, 55 in the S-BPPV group and 240 in the O-BPPV group. Significantly higher proportion of patients in the S-BPPV group were on VSD at presentation, 80.00% vs. 53.75% (OR 2.52; 95% CI: 1.30–4.86),
P
= 0.006. In an unadjusted analysis of the S-BPPV group following discontinuation of VSD, PPT became positive in 79.54% of patients as compared to 18.19% in the non-VSD group (OR 35.0; 95% CI: 6.2–197.3),
P
< 0.001.
Conclusion:
A higher proportion of S-BPPV patients were receiving VSD in comparison to O-BPPV at the initial visit. The PPT converted positive four times higher after ceasing the VSD in S-BPPV patients.
Study Design:
Prospective case-control observational study.
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Spectrum of anti-NMDA receptor antibody encephalitis: Clinical profile, management and outcomes
Amlan Kusum Datta, Alak Pandit, Samar Biswas, Atanu Biswas, Biman Kanti Roy, Goutam Gangopaddhyay
May-June 2021, 24(3):383-389
DOI
:10.4103/aian.AIAN_817_20
Background:
Anti-N-methyl D-aspartate receptor (anti NMDAR) antibody encephalitis is an immune-mediated entity characterised by a constellation of neuro-psychiatric symptoms.
Objective:
To describe clinical profile and treatment outcomes of patients with anti NMDAR antibody encephalitis.
Settings and Design:
Subjects were selected by screening for all patients satisfying Graus
et al.
's criteria for probable anti NMDAR antibody encephalitis, admitted in neurology department of a tertiary care centre in Eastern India.
Materials and Methods:
A prospective, longitudinal study was conducted by identifying 25 patients with anti NMDAR antibodies in CSF and or serum, between September 2018 to February 2020.
Statistical Analysis:
Chi square test was used to compare variables.
Results:
Out of 98 patients screened, 25 subjects (14 females: 11 male) were positive for anti NMDAR autoantibodies, with a mean age of 17 years. 13 subjects belonged to paediatric age group. Most common presenting feature was memory/learning deficit (88%) followed by behavioural abnormalities (84%) and seizures (68%). 11 patients (44%) patients needed escalation to second line therapy, rituximab. Seven (28%) and twelve (48%) patients underwent complete (mRS 0-1) and partial recovery (mRS 2-3) respectively, while 4 (16%) became disabled (mRS 4-5). Mortality was 8%. Paediatric population had a better outcome in terms of disability (p = 0.043).
Conclusion:
Anti NMDAR-Ab encephalitis is the most common cause of antibody positive autoimmune encephalitis worldwide. There are important clinical markers and investigational profiles which carry prognostic significance.
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Spectrum and evolution of EEG changes in Anti-NMDAR encephalitis
Lakshminarayanapuram Gopal Viswanathan, Shreedhara A Siddappa, Madhu Nagappa, Anita Mahadevan, Shishir Duble, Parayil S Bindu, Arun B Taly, Sanjib Sinha
May-June 2021, 24(3):396-400
DOI
:10.4103/aian.AIAN_882_20
Background:
NMDA receptor encephalitis (NMDARE) is the most prevalent autoimmune encephalitis and it encompasses a spectrum of clinical features. It is most commonly associated with alteration in consciousness, seizures, neuro-psychiatric symptoms, and movement disorders. Electroencephalography (EEG) plays a vital role and can give clues to diagnosis in a subset of patients.
Methods:
We retrospectively characterized the clinical and EEG findings in our NMDARE patients (n = 48). A total of 131 EEGs were analyzed.
Results:
We observed that patients with seizures had a younger age of onset (p < 0.001). The most common EEG pattern that was noted was diffuse slowing (n = 20) followed by generalized rhythmic delta activity (n = 9), focal spikes and slowing (n = 8 each). Delta brush pattern was seen in only 3 EEGs. Focal ictal rhythms were seen in 3 EEGs. There was no significant difference in outcomes such as seizure recurrence, modified Rankin score (mRS) at follow up/discharge or relapse between groups of patients who had EEG abnormalities in the first EEG and with those who did not.
Conclusions:
NMDARE has varied EEG findings, most of them being non-specific. When combined with clinical presentation, EEG is a useful tool in the diagnosis and management of NMDARE.
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AIAN REVIEW
Predisposing factors and management of hemodynamic depression following carotid artery stenting
Pachipala Sudheer, Ayush Agarwal, Venugopalan Y Vishnu, MV Padma Srivastava
May-June 2021, 24(3):315-318
DOI
:10.4103/aian.AIAN_1299_20
Carotid artery stenting (CAS) involves dilatation of carotid bulb which can trigger a series of neuronal responses resulting in hemodynamic depression that might influence the outcome of the procedure. This is a frequent but underdiagnosed complication of CAS. Although it is mild, transient and self-limiting in majority of cases, it can result in significant morbidity and mortality if persistent. Neurologists should be aware of the predisposing factors and management of this common complication. In patients who present with stroke following carotid stenting, neurologists should be aware of hypoperfusion secondary to hemodynamic depression as a cause of stroke apart from the stent thrombosis and occlusion.
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Primary writing tremor: Current concepts
Abhigyan Datta, Nitya Batra, Sanjay Pandey
May-June 2021, 24(3):319-326
DOI
:10.4103/aian.AIAN_1264_20
Primary Writing Tremor (PWT) is a type of task specific tremor which happens only while writing (Type A PWT) or assuming a writing position of the hand (Type B PWT). There is a considerable overlap of clinical features between PWT and writer's cramp which creates difficulty in diagnosing this condition in the clinic. PWT usually affects the dominant hand and is typically 5-7hz in frequency, worsened by anxiety, temporarily relieved by alcohol and associated with reduced writing speeds. There are a variety of hypotheses about the phenomenology of PWT (regarding whether it is a variant of essential tremor, focal dystonia or an independent entity). Unlike writer's cramp, PWT shows normal reciprocal inhibition of H reflex, does not exhibit excessive EMG activity in proximal muscles, and on fMRI shows underactivation of cingulum and overactivation of primary motor and supplementary areas. There are no randomised controlled trials currently for the treatment of PWT. Treatment modalities available are: medical treatment, botulinum toxin, surgical management (including DBS) as well as adaptive strategies and occupational therapy.
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Myoclonus- A review
Mitesh Chandarana, Udit Saraf, KP Divya, Syam Krishnan, Asha Kishore
May-June 2021, 24(3):327-338
DOI
:10.4103/aian.AIAN_1180_20
Myoclonus is a hyperkinetic movement disorder characterized by a sudden, brief, involuntary jerk. Positive myoclonus is caused by abrupt muscle contractions, while negative myoclonus by sudden cessation of ongoing muscular contractions. Myoclonus can be classified in various ways according to body distribution, relation to activity, neurophysiology, and etiology. The neurophysiological classification of myoclonus by means of electrophysiological tests is helpful in guiding the best therapeutic strategy. Given the diverse etiologies of myoclonus, a thorough history and detailed physical examination are key to the evaluation of myoclonus. These along with basic laboratory testing and neurophysiological studies help in narrowing down the clinical possibilities. Though symptomatic treatment is required in the majority of cases, treatment of the underlying etiology should be the primary aim whenever possible. Symptomatic treatment is often not satisfactory, and a combination of different drugs is often required to control the myoclonus. This review addresses the etiology, classification, clinical approach, and management of myoclonus.
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CASE REPORTS
Lying-Down Nystagmus (LDN) – When a lateralizing sign of secondary importance attains ascendancy in the diagnosis of Horizontal Semicircular Canal Benign Paroxysmal Positional Vertigo (HSC-BPPV)
Ajay K Vats
May-June 2021, 24(3):401-404
DOI
:10.4103/aian.AIAN_322_20
Background:
The diagnosis of horizontal semicircular canal benign paroxysmal positional vertigo (HSC-BPPV) mainly depends on the elicitation of asymmetric horizontal positional nystagmus on rolling head to either side, during the diagnostic supine roll test (SRT). The asymmetry in the strength of the elicited horizontal positional nystagmus during SRT is explained by the Ewald's second law and is crucial for lateralizing the affected ear. Rarely the elicited horizontal positional nystagmus on the head roll to either side during the SRT is of symmetric strength. In such situations, the signs with secondary lateralizing value are useful in management by the repositioning maneuvers that require the affected side to be precisely known.
Aim:
The submitted article is a case report.
Results and Discussion:
A 38-year-old male with two days history of vertigo on rolling to either of the lateral recumbent position was seen in the second week of March 2019. His SRT elicited a lying-down nystagmus (LDN) to the right, while the head roll to either side elicited a geotropic horizontal positional nystagmus of symmetric strength. The symmetrical strength of elicited positional nystagmus on SRT to either side led to ascendance of LDN from a lateralizing sign of secondary importance to one that reliably lateralized the involved horizontal semicircular canal. At two short term follow-ups at 1 hour and 24 hours after the therapeutic Gufoni maneuver, patient neither had vertigo nor any nystagmus elicited on the verifying supine roll test
Conclusion:
In rare instances, LDN, which is a lateralizing sign of secondary importance becomes pivotal in the management of HSC-BPPV especially when the affected side needs to be precisely determined for the execution of the therapeutic repositioning maneuver.
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LETTERS TO THE EDITOR
Listeria rhombencephalitis: Tale of a survivor
Reji Thomas, S Sheetal, S Vijayalekshmi, M Madhusudanan
May-June 2021, 24(3):464-465
DOI
:10.4103/aian.AIAN_327_20
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ORIGINAL ARTICLES
Role of pain-related evoked potential in the diagnosis of meralgia paresthetica
Atif Iqbal Ahmed Shaikh, Monika Das, Anupama Roy, Bini Baby, Dolcy Dhar, Jebalin Abigayil, Vitty Susan Varghese, Vivek Mathew, Sanjith Aaron, Ajith Sivadasan, Paul Premkumar, Tharan Suresh, Appaswamy Thirumal Prabhakar
May-June 2021, 24(3):379-382
DOI
:10.4103/aian.AIAN_441_20
Introduction:
Entrapment of the lateral femoral cutaneous nerve (LFCN) of thigh results in meralgia paresthetica (MP). Standard electrophysiological tests for MP are technically demanding and unreliable. We aimed to study the role of pain-related evoked potentials (PREP) in the diagnosis of MP.
Methods:
Patients with MP and normal volunteers were included. PREP was recorded by stimulating the skin over the lateral thigh 20 cm below the anterior-superior iliac spine and recording from the cortex at Cz.
Results:
A total of 28 subjects and 56 LFCNs were studied. 36 nerves had MP and 20 were normal. The mean PREP latency was 118 (8) ms among normal controls and 164 (10.8) ms in MP. The optimal cut-off point for the diagnosis of MP was 134 ms. Area under receiver operator characteristic curve was 0.97; sensitivity was 91.7% and specificity was 100%.
Conclusion:
PREP is reliable and easy to use electrophysiological test in establishing the diagnosis of MP.
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Sleep and other non-motor symptoms in patients with idiopathic oromandibular dystonia and meige syndrome: A questionnaire-based study
Somdattaa Ray, Bindu Kutty, Pramod Kumar Pal, Ravi Yadav
May-June 2021, 24(3):351-355
DOI
:10.4103/aian.AIAN_906_20
Introduction:
Non-motor symptoms are an essential cause of comorbidity in generalized and focal dystonia. However, there are few studies on dystonia involving the craniofacial regions.
Methods:
We studied non-motor symptoms in patients with oromandibular dystonia (OMD) and Meige syndrome using a questionnaire, and validated instruments for depression, anxiety, REM behaviour disorder, restless leg syndrome, sleep quality, excessive daytime sleepiness, and self-esteem. The severity of dystonia and blepharospasm was also studied.
Results:
Nineteen patients with OMD were recruited into the study. Among patients with OMD, depression was seen in 63.6% (
n
= 7), sleep impairment in 27.3% (
n
= 3), excessive daytime sleepiness in 27.3% (
n
= 3), and poor self- esteem in 18.2% (
n
= 2) of the patients. Among patients with Meige syndrome, depression was seen in 37.5% (
n
= 3), sleep impairment in 12.5% (
n
= 1), excessive daytime sleepiness in 25% (
n
= 2), low self-esteem in 25% (
n
= 2) of the patients.
Conclusion:
This study highlights the significant frequency of depression and sleep disturbances in patients with idiopathic OMD and Meige syndrome.
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CASE REPORTS
Vogt-koyanagi-harada syndrome - A neurologist's perspective
Sumanth Shivaram, Madhu Nagappa, Doniparthi V Seshagiri, Jayanth Shimoga Shanthakumar, Swayang Sudha Panda, Ravi Anadure, BN Nandeesh, Yasha T Chickabasaviah, Rose D Bharath, Joy Vijayan, Bakula Kashyap, Sanjib Sinha, Arun B Taly
May-June 2021, 24(3):405-409
DOI
:10.4103/aian.AIAN_405_20
Vogt-Koyanagi-Harada (VKH) syndrome is an immune-mediated granulomatous disease which affects melanin-rich organs like eyes, skin, nervous system, and ears. Neurological and auditory manifestations usually precede the involvement of other sites. Patients may manifest with “complete” or “incomplete” syndrome. We report two patients who presented with acute headache and impaired vision. Fundus examination revealed optic disc hyperemia and exudative retinal detachment which provided a clue for the diagnosis at the bedside. Fundus fluorescein angiogram (FFA) revealed abnormal dye leakage, whereas B scan showed choroid thickening. Cerebrospinal fluid (CSF) pleocytosis contrasted with unremarkable brain magnetic resonance imaging and lack of meningeal signs. Melanophagocytosis was evidenced by melanin-laden macrophages in CSF and skin biopsy. This finding is specific for VKH syndrome and helps to clinch the diagnosis even when the complete syndrome is not present cross-sectionally. VKH syndrome should be suspected in patients with aseptic meningitis if tests for common infectious and immune-mediated diseases are negative.
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3,214
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LMNB1
duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma
May-June 2021, 24(3):413-416
DOI
:10.4103/aian.AIAN_1262_20
Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the
LMNB1
gene duplication, which is the genetic basis of this devastating disorder.
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EDITORIAL COMMENTARY
SARS-CoV-2 and Guillain-Barre Syndrome (GBS): Insights from ASIA perspectives
Fu Liong Hiew, Stefanie Kar Yan Hung
May-June 2021, 24(3):311-312
DOI
:10.4103/aian.AIAN_133_21
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Predicting the unpredictable: Utility of outcome prediction scores in status epilepticus
Lakshminarayanan Kannan, Chaturbhuj Rathore
May-June 2021, 24(3):313-314
DOI
:10.4103/aian.AIAN_220_21
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3,754
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IMAGES IN NEUROLOGY
Mitochondrial membrane protein-associated neurodegeneration due to novel homozygous mutation in the C19orf12 gene
Indar K Sharawat, Prateek K Panda, Poonam Sherwani, Vetoni Moirangthem
May-June 2021, 24(3):417-418
DOI
:10.4103/aian.AIAN_620_20
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1,350
149
Optic nerve head drusen masquerading as papilledema: A diagnostic dilemma
Vipin Rana, Atul Arora, Krinjeela Bazgain, Deeksha Sharma
May-June 2021, 24(3):419-420
DOI
:10.4103/aian.AIAN_606_20
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1,811
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LETTERS TO THE EDITOR
Striking PET CT findings in infective myelitis
Boby V Maramattom, Hanna A Meleth, Shagos Nair
May-June 2021, 24(3):421-422
DOI
:10.4103/aian.AIAN_545_20
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1,536
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Basilar artery dissection in an adult patient presenting with de novo moyamoya disease
Aleksandra Lucic Prokin, Vladimir Galic, Nikola Boban
May-June 2021, 24(3):423-425
DOI
:10.4103/aian.AIAN_430_20
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1,188
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PRRT2 gene mutations in Indian paroxysmal kinesigenic dyskinesia patients
S Prabhakara, HM Hanumantha Rao, LK Prashanth, K Anbazhagan, Rochette Jacques, Basanth Kumar Reddy
May-June 2021, 24(3):425-429
DOI
:10.4103/aian.AIAN_417_20
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1,782
139
Type 1 myotonic dystrophy presenting with bulbar weakness without myotonia
Abhishek Juneja, Kuljeet S Anand
May-June 2021, 24(3):429-430
DOI
:10.4103/aian.AIAN_473_20
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1,158
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Serotonin syndrome: A syndrome on syndrome
Sanjay Prakash, Chaturbhuj Rathore, Kaushik Rana
May-June 2021, 24(3):430-432
DOI
:10.4103/aian.AIAN_421_20
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1,937
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Cerebral venous sinus thrombosis and pachymeningitis in IgG4 related disease: Report of two cases and review of literature
Varun K Singh, Jayantee Kalita, Usha K Misra, Sunil Kumar
May-June 2021, 24(3):432-436
DOI
:10.4103/aian.AIAN_411_20
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1,532
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Unravelling diagnostic dilemma: AQP4-positive transverse myelitis mimics spinal intramedullary tumor
Neeharika Sriram Ramalakshmi, Dwarakanath Srinivas, Anita Mahadevan, M Netravathi
May-June 2021, 24(3):436-439
DOI
:10.4103/aian.AIAN_424_20
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1,420
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Breathing muscles produces a “Dystonia Like” contraction
Khushnuma A Mansukhani, Mukund R Thatte, Alika Sharma, Lajita Balakrishnan, Priyanka Chavan
May-June 2021, 24(3):439-441
DOI
:10.4103/aian.AIAN_485_20
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Upbeat nystagmus in late onset cerebellar ataxia: Think of anti-glutamate decarboxylase 65 antibody-associated cerebellar ataxia
Rohan R Mahale, Debayan Dutta, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, PS Mathuranath
May-June 2021, 24(3):441-443
DOI
:10.4103/aian.AIAN_470_20
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1,706
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Integration of teleneurology within the health system to manage patients of multiple sclerosis and other CNS demyelinating disorders during COVID-19 pandemic
Priya Treesa Thomas, Harikrishna Annam, Ravindu , Manjusha G Warrier, M Netravathi
May-June 2021, 24(3):443-445
DOI
:10.4103/aian.AIAN_457_20
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1,868
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Cerebral amebiasis: An uncommon cerebral abscess
Vineet Varghese, Anil Kansal, Sandeep Bhardwaj, Akangsha Sharma
May-June 2021, 24(3):445-447
DOI
:10.4103/aian.AIAN_583_20
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Haptoglobin gene polymorphism and ischemic stroke: A case control study
Divyani Garg, Saraswathy N Kallur, Barun Kumar, Rajinder K Dhamija
May-June 2021, 24(3):447-448
DOI
:10.4103/aian.AIAN_336_20
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1,301
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Variable phenotypes in alternating hemiplegia of childhood: A genetically proven case series
Smilu Mohanlal, Sachin Suresh Babu, Divya Pachat
May-June 2021, 24(3):449-450
DOI
:10.4103/aian.AIAN_495_20
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1,574
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Guillain-Barre' syndrome following scrub typhus: A rare case
Shishir Pandey, Dinesh Chaudhari, Pushpendra N Renjen, Kamal Ahmad
May-June 2021, 24(3):451-452
DOI
:10.4103/aian.AIAN_471_20
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1,232
115
Chorea-acanthocytosis: 3 new families with novel genetic and metabolic findings
Mirza Masoom Abbas, SG Thenral, Vedam L Ramprasad, Ruth H Walker, Prashanth Lingappa Kukkle
May-June 2021, 24(3):452-456
DOI
:10.4103/aian.AIAN_215_20
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Transient tunnel vision as initial presentation of anti-MOG antibody positive optic neuritis
Appaswamy T Prabhakar, Murali Rayani, Vamsi Krishna, Atif Sheikh, Ajith Sivadasan, Aditya V Nair, Vivek Mathew
May-June 2021, 24(3):456-458
DOI
:10.4103/aian.AIAN_437_20
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1,308
150
Growing spectrum of episodic apnea with hypotonia in a young infant
Malini Maya, Pediredla Karunakar, Ananthanarayanan Kasinathan, Dhandapany Gunasekaran, Jaikumar G Ramamoorthy
May-June 2021, 24(3):458-459
DOI
:10.4103/aian.AIAN_482_20
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1,442
91
Vertebrobasilar insufficiency presenting as orthostatic cerebellar ataxia
Geun Soo Kim, Hong-Kyun Park, Pamela Song, Jae Jung Lee, Joong-Yang Cho
May-June 2021, 24(3):459-461
DOI
:10.4103/aian.AIAN_490_20
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1,534
121
Triple whammy! Steroids, strongyloidiasis and septic meningitis
Divyani Garg, Sudha Jasmine
May-June 2021, 24(3):461-463
DOI
:10.4103/aian.AIAN_414_20
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ORIGINAL ARTICLES
Evaluating the role of HLA DRB1 alleles and oligoclonal bands in influencing clinical course of multiple sclerosis – A study from the Mangalore demyelinating disease registry
Anitha DCunha, Lekha Pandit, Chaithra Malli, Akshatha Sudhir
May-June 2021, 24(3):356-360
DOI
:10.4103/aian.AIAN_508_20
Background:
The possible interaction between genetic and immunological factors in influencing clinical course of multiple sclerosis (MS) has not been studied previously in Indian population.
Aim:
In this study we evaluated the association of HLA alleles and OCB in affecting clinical course and disability of MS.
Methods:
Clinical and demographic features of 145 MS patients who had CSF oligoclonal bands (OCB) tested by isoelectric focussing technique were analyzed, disability status estimated, and HLA DRB1 alleles were genotyped.
Results:
OCBs were positive in 53.8% (78/145) of all MS cases. Patients with CSF OCB had more frequent relapses and an association with HLA DRB1*15. Early disease onset and a high annualized relapse rate was associated with HLA DRB1*03 allele. A relapsing remitting course for MS was seen with HLA DRB1*03 & 15 while a progressive disease was associated with DRB1*01. Presence of both OCB and HLA DRB1*13 was significantly associated with disability in this cohort.
Conclusion:
The results of our study suggest that an interaction between immunological and genetic factors may influence disease onset, course, and disability in MS.
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1,954
128
Impact of a brief structured psychoeducation session on antiepileptic drug adherence and treatment outcome in persons with epilepsy: A prospective cohort study
Savita Chahal, Nikhil Govil, Anuradha Nadda, Amandeep S Kaloti, Nishu Gupta
May-June 2021, 24(3):361-366
DOI
:10.4103/aian.AIAN_447_20
Background:
Poor adherence to antiepileptic drugs is one of the most important causes of treatment failure in persons with epilepsy (PWE). This study was aimed at assessing the impact of psychoeducation on drug adherence and treatment outcome in PWE.
Methods:
It was a prospective cohort study with a pre and posttest intervention design. A cohort of 100 epilepsy patients aged 18–65 years and on antiepileptic drugs for at least 6 months attending the outpatient department was enrolled in the study. Drug adherence was measured by Medication Adherence Rating Scale. A structured eight-domain epilepsy psychoeducation session with pictorial description was given to the study subjects in two parts (group and individually) lasting for a total of 30 min on the day of baseline assessment. Adherence and treatment outcome variables were assessed by an independent observer 4 months after the psychoeducation session. Chi-square test and paired t-test were used to analyze the data using SPSS version 20 with
P
value less than 0.05 considered as significant.
Results:
There was a statistically significant (
P
< 0.001) increase in the number of patients who were adherent to medications after psychoeducation session. There was a significant reduction in mean seizure frequency (0.68 ± 0.65) and seizure severity in terms of injuries sustained during seizure episodes post intervention. Regularities in the follow-up visits were also witnessed. A significant decrease in the number of hospital admissions (0.09 ± 0.32), mean inpatient treatment days (0.44 ± 2.19), and emergency room visits (0.19 ± 0.15) was noted 4 months after the psychoeducation session indicative of better treatment outcome.
Conclusion:
The present study proves the efficacy of a structured educational program in improving drug adherence and treatment outcome in a cohort of people with epilepsy.
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156
Canavan Disease: Clinical and laboratory profile from Southern part of India
Vykuntaraju K Gowda, Narmadham K Bharathi, Jamunashree Bettaiah, Maya Bhat, Sanjay K Shivappa
May-June 2021, 24(3):347-350
DOI
:10.4103/aian.AIAN_386_20
Background:
Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series.
Methods:
This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed.
Results:
We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%,
n
= 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in
ASPA
gene. Antenatal diagnosis helped in prevention of recurrence in three families.
Conclusion:
Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.
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Utility of the END-IT score to predict the outcome of childhood status epilepticus: A retrospective cohort study
Dipti Kapoor, Sidharth , Divyani Garg, Rajiv K Malhotra, Virendra Kumar, Suvasini Sharma
May-June 2021, 24(3):390-395
DOI
:10.4103/aian.AIAN_1319_20
Introduction:
Scoring systems to predict outcomes in pediatric status epilepticus (SE) are limited. We sought to assess usefulness of the END-IT score in pediatric SE.
Methodology:
We conducted a retrospective study at a tertiary hospital in New Delhi, India. Children aged 1 month–18 years who presented with seizure for ≥5 min/actively convulsing to emergency were enrolled. END-IT score was calculated and correlated with outcome at discharge using Pediatric Overall Performance Category (POPC) scale, in-hospital mortality, and progression to refractory and super-refractory SE (SRSE).
Results:
We enrolled 140 children (mean age 5.8 years; 67.1% males). Seven children died and 15 had unfavorable outcomes. The predictive accuracy of END-IT at a cutoff of > 2: for unfavorable outcome (POPC score ≥3) was: sensitivity 0.73 (95% CI: 0.45–0.92), specificity 0.94 (95% CI: 0.89–0.98), PPV 0.61 (95% CI: 0.36–0.83), NPV 0.97 (95% CI: 0.92–0.99), positive likelihood ratio (13.09), F1 score (0.666); for death: sensitivity 0.86 (95% CI: 0.42–0.99), specificity 0.91 (95% CI: 0.85–0.95), PPV 0.33 (95% CI: 0.13–0.59), NPV 0.99 (95% CI: 0.96–1.00), F1 score (0.48); for RSE: sensitivity 0.80 (95%CI: 0.28–0.99), specificity 0.90 (95% CI: 0.83–0.94), PPV 0.22 (95% CI: 0.06–0.48) NPV 0.99 (95% CI: 0.96–1.00), F1 score (0.35); for SRSE: sensitivity 0.67 (95% CI: 0.22–0.96) specificity 0.75 (95% CI: 0.66–0.82), PPV 0.22 (95% CI: 0.06–0.48) NPV 0.98 (95% CI: 0.94–0.99), F1 score (0.33).
Conclusion:
We demonstrate utility of the END-IT score to predict short-term outcomes as well as progression to refractory and SRSE for the first time among children with SE.
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3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation
Nafiye Emel Çakar, Orhan Görükmez
May-June 2021, 24(3):372-378
DOI
:10.4103/aian.AIAN_192_20
Objective:
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease.
Methods:
HIBCH gene analysis was performed in all cases.
Results:
The common features of our five patients from the same family with a developmental delay, seizures, and neurological regression were the elevation of 3-hydroxy-isobutyryl-carnitine and Leigh-like abnormalities. Unlike other patients in the literature, our patients were diagnosed with HIBCH gene analysis, rather than whole exome sequencing (WES). In all our cases, a missense c.452C>T, p. Ser151Leu homozygous novel pathogenic mutation was detected in the HIBCH gene.
Conclusion:
In cases where HIBCH deficiency is considered in our differential diagnosis algorithm, HIBCH gene analysis, which is cost-effective, should be performed instead of WES, and the number of cases should be increased in the literature.
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© 2006 - Annals of Indian Academy of Neurology | Published by Wolters Kluwer -
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Online since 1
st
March, 2006