Publications by authors named "Soumya Sundaram"

19 Publications

  • Page 1 of 1

Adult-onset subacute sclerosing panencephalitis.

Pract Neurol 2021 Apr 13. Epub 2021 Apr 13.

Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, India

Subacute sclerosing panencephalitis (SSPE) is a lethal slow viral disease of the central nervous system caused by a defective measles virus. The onset is mostly in childhood, manifesting clinically as decline in academic performance, behavioural changes, motor dysfunction and myoclonus. Adult-onset SSPE is rare and can present as rapidly progressive dementia. We present a young man of Indian origin with adult-onset SSPE with rapidly progressive dementia but no localising neurological signs. The diagnostic clues were parieto-occipital white matter changes on MR brain scan and history of childhood fever with rash. High titres of antimeasles antibody in cerebrospinal fluid confirmed the diagnosis. The long latency from primary measles virus infection to symptom onset can be misleading in adults. SSPE should be considered in adults with dementia, especially in tropical countries where vaccination coverage is suboptimal.
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http://dx.doi.org/10.1136/practneurol-2020-002880DOI Listing
April 2021

Rituximab for refractory primary angiitis of the central nervous system: Experience in two patients.

Mult Scler Relat Disord 2021 Mar 18;51:102907. Epub 2021 Mar 18.

Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India. Electronic address:

Primary Angiitis of the Central Nervous System (PACNS) is an aggressive disease with a high rate of relapse and mortality. Majority of patients attains clinical remission with a combination of glucocorticoids and cyclophosphamide. However, there is limited evidence on further management in patients who relapse or does not achieve clinical improvement while on first line treatment. Here, we present two cases of PACNS in whom clinical course was complicated by recurrent strokes and radiological progression despite receiving optimal immunosuppression with glucocorticoids and cyclophosphamide. Rituximab, a monoclonal antibody, as second line agent was administered with which both patients had clinical improvement and was relapse free at one year followup.
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http://dx.doi.org/10.1016/j.msard.2021.102907DOI Listing
March 2021

Skeletal complications in congenital insensitivity to pain and anhidrosis: a problem to reckon with.

Neurol Sci 2021 Mar 19. Epub 2021 Mar 19.

Pediatric Neurology and Comprehensive Care Centre for Neurodevelopmental Disorders, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, 695011, India.

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http://dx.doi.org/10.1007/s10072-021-05181-7DOI Listing
March 2021

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.

Epilepsy Res 2020 10 18;166:106398. Epub 2020 Jun 18.

R. Madhavan Nayar Center for Comprehensive Epilepsy Care, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Introduction: A paucity of literature exists on genotype- phenotype correlates of 'unknown-etiology' infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield of genetic testing in identifying potential disease causing variants in electro-clinical phenotypes of DEE METHODS: An observational hospital-based study was undertaken on children with unexplained refractory seizure-onset ≤12 months age and developmental delay, whose families consented and underwent genetic testing during a three year time period (2016-2018) by next-generation sequencing (NGS) or multiplex ligand protein amplification. Yield was considered based on demonstration of pathogenic/likely pathogenic variants only and variants of unknown significance (VUS) were documented.

Results: Pathogenic/likely pathogenic variants were identified in 26 (31.7 %) out of 82 children with DEE. These included those variants responsible for primarily DEE- 21(76.7 %); neuro-metabolic disorders- 3(18.6 %) and chromosomal deletions- 2(4.7 %). Of these patients, early-infantile epilepsy onset ≤ 6 months age was noted in 22(84.6 %). The DEE studied included Ohtahara syndrome associated with STXBP1 and SCN8A variants with yield of 50 % (2/4 tested); early myoclonic encephalopathy (no yield in 2); West syndrome with CDKL5, yield of 13.3 % (2/15 tested); epilepsy of infancy with migrating partial seizures due to CACNA1A and KCNT1 variants, yield of 67 % (2/3 tested); DEE-unclassified with KCNQ2, AP3B2, ZEB2, metabolic variants (SUOX, ALDH7A1, GLDC) and chromosome deletions (chr 1p36, chr2q24.3); yield of 32 % (8/25 tested). Patients with Dravet syndrome/Dravet-like phenotypes (N = 33) had variants in SCN1A (N = 10), SCN1B, CHD2; yield of 36.4 % (12/33 tested; 57.1 % from NGS). Eighteen patients with potential variants (SCN1A, SCN2A, SCN8A, KCNQ2, ALDH7A1 which also included VUS) could be offered targeted therapy.

Conclusions: Our study confirms a good yield of genetic testing in neonatal and infantile-onset DEE provided robust phenotyping of infants is attempted with prognostic and therapeutic implications, particularly relevant to centres with resource constraints.
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http://dx.doi.org/10.1016/j.eplepsyres.2020.106398DOI Listing
October 2020

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Clin EEG Neurosci 2020 Nov 2;51(6):390-398. Epub 2020 Mar 2.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was mutation (3), mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.
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http://dx.doi.org/10.1177/1550059420909673DOI Listing
November 2020

Horizontal gaze palsy and progressive scoliosis-a tale of two siblings with ROBO3 mutation.

Ophthalmic Genet 2020 02 20;41(1):99-100. Epub 2020 Feb 20.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.

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http://dx.doi.org/10.1080/13816810.2020.1727537DOI Listing
February 2020

Teaching NeuroImages: Hypomyelinating leukodystrophy with generalized dystonia.

Neurology 2020 01;94(3):e335-e336

From the Department of Imaging Sciences and Intervention Radiology (S.V.) and Comprehensive Care Centre for Neurodevelopmental Disorders (S.S.), Department of Neurology (S.S.N.), Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.

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http://dx.doi.org/10.1212/WNL.0000000000008827DOI Listing
January 2020

Poststroke Dysphagia- Does Electrophysiology Help in Evaluation and Monitoring?

Neurol India 2019 Nov-Dec;67(6):1467-1468

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

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http://dx.doi.org/10.4103/0028-3886.273612DOI Listing
February 2020

Homozygous sequestosome 1 () mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

Ophthalmic Genet 2019 08 16;40(4):376-379. Epub 2019 Sep 16.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.

Mutations in sequestosome 1 () gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. Recently, mutation in was also found to cause a progressive childhood-onset cerebellar ataxia. We describe here a case of progressive childhood-onset cerebellar ataxia with vertical supra nuclear gaze palsy with no family history and a normal magnetic resonance imaging (MRI) of brain. The clinical exome sequencing in this patient showed a homozygous mutation in . This case highlights the importance of next-generation sequencing in the diagnosis of inherited ataxia syndromes. mutation should be considered in the differential diagnosis in a patient with both cerebellar ataxia and ophthalmological manifestations.
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http://dx.doi.org/10.1080/13816810.2019.1666414DOI Listing
August 2019

Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy.

J Pediatr Neurosci 2019 Apr-Jun;14(2):70-75

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Context: Metachromatic leukodystrophy (MLD) is a rare autosomal-recessive disorder characterized by demyelination of central and peripheral nervous system. There is scarcity of literature on the electrophysiological aspects of peripheral nerves and the advanced neuroimaging findings in MLD.

Aim: The aim was to study the nerve conduction parameters and advanced neuroimaging findings in patients with MLD.

Materials And Methods: This study is a retrospective analysis conducted, between 2005 and 2016, of 12 patients who had biochemical, histopathological, or genetic confirmation of MLD and disease onset before 18 years of age. The clinical, electroneurography, and the advanced neuroimaging findings were reviewed and analyzed.

Statistical Analysis: The data were presented as percentages or mean ± standard deviation as defined appropriate for qualitative and quantitative variables.

Results: Mean age of onset was 4.84 (±4.60) years and seven patients were males. Eight patients had juvenile MLD and four had late infantile MLD. Clinical presentation of psychomotor regression was more common in infantile MLD (75%), whereas gait difficulty (62.5%) and cognitive impairment (37.5%) were more frequent in juvenile MLD. Nerve conduction study (NCS) revealed diffuse demyelinating sensorimotor peripheral neuropathy in 9 (75%) patients. One patient had a rare presentation with conduction blocks in multiple nerves with contrast enhancement of cauda equina. Diffusion restriction involving periventricular and central white matter was seen in five patients and bilateral globus pallidi blooming was noted in three patients.

Conclusion: This study highlights the utility of NCS and advanced magnetic resonance imaging sequences in the diagnosis of MLD.
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http://dx.doi.org/10.4103/jpn.JPN_155_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6712919PMC
September 2019

Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr).

J Clin Neuromuscul Dis 2019 Sep;21(1):42-46

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.

Skeletal sodium channel mutations have been known to demonstrate a multitude of clinical manifestations of which one such commonly known entity is paramyotonia congenita. We describe the clinical features of proband in our case report and the various phenotypic manifestations described with the mentioned mutation from different centres. Our case serves to highlight the heterogeneity that exists in SCN4A mutations and the possible effect of other genetic/environmental factors in determining the final phenotype.
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http://dx.doi.org/10.1097/CND.0000000000000245DOI Listing
September 2019

'Whiskey in my pee' - Rhabdomyolysis in a patient with alcohol binge.

Asian J Psychiatr 2019 Aug 10;44:70-71. Epub 2019 Jul 10.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India. Electronic address:

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http://dx.doi.org/10.1016/j.ajp.2019.07.025DOI Listing
August 2019

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

J Neurol 2019 Aug 8;266(8):1919-1926. Epub 2019 May 8.

Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, India.

Background: Neurological disorders are clinically heterogeneous group of disorders and are major causes of disability and death. Several of these disorders are caused due to genetic aberration. A precise and confirmatory diagnosis in the patients in a timely manner is essential for appropriate therapeutic and management strategies. Due to the complexity of the clinical presentations across various neurological disorders, arriving at an accurate diagnosis remains a challenge.

Methods: We sequenced 1012 unrelated patients from India with suspected neurological disorders, using TruSight One panel. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform.

Results: We were able to detect mutations in 197 genes in 405 (40%) cases and 178 mutations were novel. The highest diagnostic rate was observed among patients with muscular dystrophy (64%) followed by leukodystrophy and ataxia (43%, each). In our cohort, 26% of the patients who received definitive diagnosis were primarily referred with complex neurological phenotypes with no suggestive diagnosis. In terms of mutations types, 62.8% were truncating and in addition, 13.4% were structural variants, which are also likely to cause loss of function.

Conclusion: In our study, we observed an improved performance of multi-gene panel testing, with an overall diagnostic yield of 40%. Furthermore, we show that NGS (next-generation sequencing)-based testing is comprehensive and can detect all types of variants including structural variants. It can be considered as a single-platform genetic test for neurological disorders that can provide a swift and definitive diagnosis in a cost-effective manner.
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http://dx.doi.org/10.1007/s00415-019-09358-1DOI Listing
August 2019

Relapsing lumbosacral myeloradiculitis: An unusual presentation of MOG antibody disease.

Mult Scler 2020 04 1;26(4):509-511. Epub 2019 Apr 1.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Thiruvananthapuram, India.

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) seropositivity is being increasingly reported in diverse demyelinating syndromes with monophasic and relapsing presentations. Conus myelitis is described as a typical feature of MOG-Ab seropositivity. However, the association with lumbosacral radiculitis in this disease is not well-recognized. Here, we report a patient with relapsing MOG-Ab disease who presented clinically and radiologically with a relapsing lumbosacral myeloradiculopathy. This presentation raises the diagnostic possibilities of chronic infections, sarcoidosis, and neoplastic infiltration. This case illustrates the need to consider MOG-Ab disease as one of the differential diagnosis for a non-compressive lumbosacral myeloradiculopathy.
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http://dx.doi.org/10.1177/1352458519840747DOI Listing
April 2020

Primary angiitis of the central nervous system: Clinical profiles and outcomes of 45 patients.

Neurol India 2019 Jan-Feb;67(1):105-112

Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.

Objective: To describe the clinical profile, treatment response and predictors of outcome in patients with primary angiitis of the central nervous system (PACNS) from a single tertiary care center.

Methodology: Retrospective analysis of consecutive patients diagnosed with PACNS from January 2000 to December 2015. Outcome was defined as poor when the 6-month modified Rankin scale (mRS) was ≥3.

Results: The median age of the 45 patients included in this study was 36 (range 19-70) years at disease onset and 31 (68.9%) were males. The initial presentation was ischemic stroke in 15 (33.3%), hemorrhagic stroke in 4 (8.9%), headache in 11 (24.4%), seizures in 8 (17.8%) and cognitive dysfunction in 5 (11.1%) patients. Diagnosis was confirmed by a four vessel cerebral digital subtraction angiogram (DSA), biopsy and by both biopsy and DSA in 26 (57.8%), 15 (33.3%) and 4 (8.9%) patients, respectively. All patients received glucocorticoids and 14 patients received in addition either cyclophosphamide or azathioprine as their first treatment. The median duration of follow-up was 33.1 (0.7-356) months. A poor 6-month outcome was observed in 12 (26.7%) patients. Relapse occurred in 25 (55.6%) patients and 7 (15.6%) died. Predictors of a poor outcome consisted of cognitive dysfunction at diagnosis (80% vs 20%; P = 0.014) and NIHSS ≥5 (62.5% vs 37.5%; P <.0005). None of the patients with a normal EEG had a poor outcome (P = 0.046). Predictors of relapse were a higher NIHSS at admission (P =.032) and a normal DSA (P = 0.002).

Conclusion: In this cohort, severe deficits and cognitive symptoms at onset and an abnormal EEG were associated with a poor 6-month outcome.
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http://dx.doi.org/10.4103/0028-3886.253578DOI Listing
December 2019

Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.

Neurol India 2018 Nov-Dec;66(6):1802-1804

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

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http://dx.doi.org/10.4103/0028-3886.246264DOI Listing
September 2019

Teaching NeuroImages: Imaging in metabolic leukoencephalopathy, L-2-hydroxyglutaric aciduria.

Neurology 2018 10;91(16):e1549-e1550

From the Department of Neurology (S. Sivadasan, S. Sundaram), and Department of Neuroimaging and Interventional Radiology (V.S.), Sree Chitra Institute of Medical Sciences and Technology, Thiruvananthapuram, India.

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http://dx.doi.org/10.1212/WNL.0000000000006362DOI Listing
October 2018

Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle.

Neurol India 2018 Mar-Apr;66(Supplement):S149-S150

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.

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http://dx.doi.org/10.4103/0028-3886.226465DOI Listing
September 2019

Moyamoya disease: a comparison of long term outcome of conservative and surgical treatment in India.

J Neurol Sci 2014 Jan 16;336(1-2):99-102. Epub 2013 Oct 16.

Department of Biostatistics, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

Background: Revascularization surgery (RS) is the therapy of choice in moyamoya disease (MMD). Due to rarity of disease and ethical concerns, randomized controlled trials about the treatment options are lacking. Very little information is available on the long-term outcome of conservatively treated moyamoya patients.

Aim: We compared the long-term outcome of moyamoya patients treated conservatively to those who underwent RS.

Methods: Our study population included all patients with moyamoya disease/syndrome from 2002 to 2012. The demographic, clinical characteristic and imaging details were reviewed. The outcome was obtained prospectively.

Results: Of the 36 patients, 26 (72.2%) had MMD and 10 (27.8%) had moyamoya syndrome. The median age at onset of symptoms was 17.5 years (range, 10 months-55 years). Fifteen patients belonged to pediatric group and 21 were adults. All the pediatric patients had ischemic events at onset and 10 (47.6%) of the adults presented with hemorrhage. Twenty (55.6%) patients received conservative treatment and 16 (44.4%) underwent revascularization procedures. The median duration of follow-up was 28 months (range, 3-90 months). Three (18%) of the surgically treated patients had recurrent ischemic events on follow-up, but none of the conservatively treated patients had events. An excellent outcome (Modified Rankin Scale of ≤2) was seen in 12 (75%) surgically treated and 16 (94%) conservatively treated patients (p=0.17).

Conclusion: Compared to East Asians, our patients had a lower stroke recurrence rate and good functional outcome even with conservative treatment. Future studies should focus on clinical and imaging predictors of progression to select moyamoya patients for RS.
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http://dx.doi.org/10.1016/j.jns.2013.10.014DOI Listing
January 2014