Publications by authors named "Vykuntaraju K Gowda"

80 Publications

Infantile Tremor Syndrome Presenting as Stroke.

Indian J Pediatr 2021 Oct 26. Epub 2021 Oct 26.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03993-1DOI Listing
October 2021

Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.

J Pediatr Genet 2021 Sep 27;10(3):205-212. Epub 2020 Jul 27.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

 Childhood ataxia with central nervous system hypomyelination (CACH) is a recently described childhood inherited white matter disease, caused by mutations in any of the five genes encoding eukaryotic translation initiation factor ( ).  Retrospective review of the charts of children with CACH was performed from January 2014 to March 2020 at tertiary care center from Southern India. Diagnosis was based on magnetic resonance imaging (MRI) criteria or genetic testing.  Total number of children with CACH enrolled were 18. Male/female ratio was 10:8. Mean age of presentation was 37.11 months (range =  6-144 months). Affected siblings were seen in five (28%) cases. All children had spasticity, ataxia, and diffuse white matter changes with similar signal as cerebrospinal fluid on all pulse sequences on MRI brain. Of the 18 children, only nine are alive. Duration of illness among deceased children was 9.6667 months (range = 2-16 months). Waxing and waning of symptoms were seen in seven cases. Genetic analysis of gene was performed in five cases, among which three mutations were novel.  A diagnosis of childhood ataxia with central nervous system hypomyelination should be considered in patients presenting with acute onset neuroregression following infection or trauma with associated neuroimaging showing classical white matter findings.
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http://dx.doi.org/10.1055/s-0040-1714717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416235PMC
September 2021

Nonepileptic Paroxysmal Events (NEPE) in Children.

Indian J Pediatr 2021 Sep 1. Epub 2021 Sep 1.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03944-wDOI Listing
September 2021

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Ann Indian Acad Neurol 2021 May-Jun;24(3):347-350. Epub 2020 Dec 1.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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%, = 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 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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http://dx.doi.org/10.4103/aian.AIAN_386_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370168PMC
December 2020

NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases.

Seizure 2021 Aug 18;92:52-55. Epub 2021 Aug 18.

Epilepsy Program, Division of Neurology, Department of Pediatrics, Hospital for Sick Children (HSC), Toronto, Ontario, Canada. Electronic address:

Purpose: This study aimed to describe the phenotype of five new cases of NTRK2-related developmental and epileptic encephalopathy (DEE).

Methods: The clinical features, EEG, neuroimaging and genetics were reviewed for cases with likely pathogenic and pathogenic NTRK2 variants and then summarized.

Results: Five cases of NTRK2-related DEE were identified. Four had a previously described recurrent variant in NTRK2 and one had a novel variant. The phenotype was characterized by early- onset seizures (infantile spasms, later evolving to multifocal seizures), global developmental delay, variable movement disorders, microcephaly and optic nerve hypoplasia.

Conclusions: This series further expands our knowledge of the phenotype and genotype of NTRK2-related DEE.
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http://dx.doi.org/10.1016/j.seizure.2021.08.008DOI Listing
August 2021

Homocystinuria Due to MTHFR Variant Presenting As Infantile Tremor Syndrome.

Indian J Pediatr 2021 Nov 4;88(11):1153. Epub 2021 Aug 4.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03899-yDOI Listing
November 2021

A Treatable Cause of Global Developmental Delay with Epileptic Spasm and Delayed Myelination Due to Cobalamin-Related Remethylation Disorder.

Indian J Pediatr 2021 Nov 3;88(11):1156-1157. Epub 2021 Aug 3.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03901-7DOI Listing
November 2021

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Brain Dev 2021 Jul 13. Epub 2021 Jul 13.

Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting various NBIA subtypes together are few. This study was aimed at describing clinical features, neuroimaging findings, and genetic mutations of different NBIA group disorders.

Methods: Clinical, radiological, and genetic data of patients diagnosed with NBIA in a tertiary care centre in Southern India from 2014 to 2020 was retrospectively collected and analysed.

Results: In our cohort of 27 cases, PLA2G6-associated neurodegeneration (PLAN) was most common (n = 13) followed by Pantothenate kinase-associated neurodegeneration (PKAN) (n = 9). We had 2 cases each of Mitochondrial membrane-associated neurodegeneration (MPAN) and Beta-propeller protein- associated neurodegeneration (BPAN) and 1 case of Kufor-Rakeb Syndrome (KRS). Walking difficulty was the presenting complaint in all PKAN cases, whereas the presentation in PLAN was that of development regression with onset at a mean age of 2 years. Overall, 50% patients of them presented with development regression and one-third had epilepsy. Presence of pyramidal signs was most common examination feature (89%) followed by one or more eye findings (81%) and movement disorders (50%). Neuroimaging was abnormal in 24/27 cases and cerebellar atrophy was the commonest finding (52%) followed by globus pallidus hypointensities (44%).

Conclusions: One should have a high index of clinical suspicion for the diagnosis of NBIA in children presenting with neuroregression and vision abnormalities in presence of pyramidal signs or movement disorders. Neuroimaging and ophthalmological evaluation provide important clues to diagnosis in NBIA syndromes.
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http://dx.doi.org/10.1016/j.braindev.2021.06.010DOI Listing
July 2021

Etiological Pattern of Movement Disorders in Children.

Indian J Pediatr 2021 Nov 25;88(11):1159. Epub 2021 Jun 25.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03850-1DOI Listing
November 2021

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Hum Mutat 2021 Aug 15;42(8):1015-1029. Epub 2021 Jun 15.

School of Biotechnology, Madurai Kamaraj University, Madurai, India.

Mutations in ALDH3A2 cause Sjögren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty aldehyde dehydrogenase (FALDH). We screened for novel mutations causing SLS among Indian ethnicity, characterized the identified mutations in silico and in vitro, and retrospectively evaluated their role in phenotypic heterogeneity. Interestingly, asymmetric distribution of nonclassical traits was observed in our cases. Nerve conduction studies suggested intrinsic-minus-claw hands in two siblings, a novel neurological phenotype to SLS. Genetic testing revealed five novel homozygous ALDH3A2 mutations in six cases: Case-1-NM_000382.2:c.50C>A, NP_000373.1:p.(Ser17Ter); Case-2-NM_000382.2:c.199G>T, NP_000373.1:p.(Glu67Ter); Case-3-NM_000382.2:c.1208G>A, NP_000373.1:p.(Gly403Asp); Case-4-NM_000382.2:c.1325C>T, NP_000373.1:p.(Pro442Leu); Case-5 and -6 NM_000382.2:c.1349G>A, NP_000373.1:p.(Trp450Ter). The mutations identified were predicted to be pathogenic and disrupt the functional domains of the FALDH. p.(Pro442Leu) at the C-terminal α-helix, might impair the substrate gating process. Mammalian expression studies with exon-9 mutants confirmed the profound reduction in the enzyme activity. Diminished aldehyde-oxidizing activity was observed with cases-2 and 3. Cases-2 and 3 showed epidermal hyperplasia with mild intracellular edema, spongiosis, hypergranulosis, and perivascular-interstitial lymphocytic infiltrate and a leaky eosinophilic epidermis. The presence of keratin-containing milia-like lipid vacuoles implies defective lamellar secretion with p.(Gly403Asp). This study improves our understanding of the clinical and mutational diversity in SLS, which might help to fast-track diagnostic and therapeutic interventions of this debilitating disorder.
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http://dx.doi.org/10.1002/humu.24236DOI Listing
August 2021

Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.

J Pediatr Genet 2021 Jun 13;10(2):111-115. Epub 2020 Aug 13.

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Alternating hemiplegia of childhood (AHC) is a rare autosomal dominant neurodevelopmental disorder with mutation on gene. Delay in diagnosis and inappropriate diagnosis are common. In this article, we described four genetically confirmed AHC patients to provide an improved understanding of the disorder. First symptom in two patients was seizures and in other two patients was abnormal eye deviation. All had onset of plegic attacks within the first 18 months of their life. Tone abnormalities and movement disorders were present in all patients. Electroencephalogram was abnormal in two patients and all had normal magnetic resonance imaging of the brain. Response to treatment of plegic attacks was poor and also epilepsy was drug resistant. All cases had significant development delay and disability as of last follow-up. Although there is no effective treatment so far, early diagnosis is required to avoid unnecessary treatment.
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http://dx.doi.org/10.1055/s-0040-1714702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110357PMC
June 2021

Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.

J Pediatr Genet 2021 Jun 27;10(2):85-91. Epub 2020 Jul 27.

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis, dystonia, increased sweating, intermittent fever, feeding and sleep disturbance, irritability, failure to thrive, axial hypotonia with dyskinetic quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with pyridoxal 5-phosphate, trihexyphenidyl and pramipexole and six cases, in addition, were given bromocriptine. One case was additionally treated with selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent fever, and sleep disturbance with normal neuroimaging.
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http://dx.doi.org/10.1055/s-0040-1714690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110350PMC
June 2021

Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child.

Indian J Pediatr 2021 06 9;88(6):596. Epub 2021 Apr 9.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03756-yDOI Listing
June 2021

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.

Eur J Paediatr Neurol 2021 Mar 16;31:54-60. Epub 2021 Feb 16.

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India. Electronic address:

Three unrelated girls, all born to consanguineous parents had respiratory distress, severe hypotonia at birth along with prominent fatigable muscle weakness and characteristic myopathic facies. In addition, patient 1 had fatigable ptosis, ophthalmoparesis and profound bulbar weakness and required nasogastric feeding from birth. A feeding gastrostomy was inserted at 9 months of age. She continued to have severe bulbar and limb weakness with dropped head at 5 years of age. Patient 2 and 3 did not have ocular signs at the time of initial presentation during infancy and at 2 years of age respectively. None of the patients attained independent walking. Patient 3, currently aged 16 years continues to be wheelchair bound and has only mild non-progressive bulbar weakness with normal cognitive development. Muscle biopsy in patient 1 and 3 showed predominant myopathic features admixed with small sized (atrophic/hypoplastic) fibres. Next generation sequencing confirmed the presence of a homozygous loss of function VAMP1 mutations in all three patients: A single nucleotide deletion resulting in frameshift: c.66delT (p.Gly23AlafsTer6) in patient 1 and nonsense mutations c.202C>T (pArg68Ter) and c.97C>T (p.Arg33Ter) in patient 2 and 3 respectively. Minimal but definite improvement in muscle power with pyridostigmine was reported in patients 1 and 2. This is the first report of VAMP1 mutations causing CMS from the Indian subcontinent, describing a clinically recognizable severe form of VAMP1-related CMS and highlighting the need for a strong index of suspicion for early genetic diagnosis of potentially treatable CMS phenotypes.
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http://dx.doi.org/10.1016/j.ejpn.2021.02.005DOI Listing
March 2021

Effectiveness and Safety of Brivaracetam in Children.

Indian J Pediatr 2021 05 12;88(5):506. Epub 2021 Feb 12.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-021-03697-6DOI Listing
May 2021

Osteoporosis Pseudoglioma Syndrome.

J Pediatr Neurosci 2020 Jul-Sep;15(3):334-335. Epub 2020 Nov 6.

Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Osteoporosis pseudoglioma syndrome is characterized by intellectual disability, osteoporosis of bones and eye abnormalities. We report, a 14-year-old female child presented with walking difficulty with frequent falls followed by deformity of left leg. On examination, bilateral micropthalmia, microcornea, corneal clouding, vitreo-retinal detachment, and atrophic irises. She had deformity of left lower limb, anterior bowing of both tibia, lax skin, hyperextensible joints. Skeletal survey showed severe osteoporosis with fracture of left femur and fish mouth vertebra. She had normal serum calcium, phosphorus, and alkaline phosphatase levels. Targeted next generation testing revealed homozygous pathogenic variant in exon 6 at c.1096G>A/p.V366 M and confirmed by Sanger sequencing. Early diagnosis and treatment are helpful in preventing further fractures and osteoporosis.
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http://dx.doi.org/10.4103/jpn.JPN_107_20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847108PMC
November 2020

Macrophagic Myofasciitis: A Report of Two South Indian Infants.

J Pediatr Neurosci 2020 Jul-Sep;15(3):279-282. Epub 2020 Nov 6.

Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

Macrophagic myofasciitis is a rare inflammatory myopathy characterized by peri-fascicular macrophage infiltration without muscle necrosis. Here we report two children presented in the early infancy. Case 1: a 5-month-old girl presented with lack of neck control and floppiness. On examination, generalized hypotonia, absent deep tendon reflexes, and motor power of 2/5 (Medical Research Council grade) were observed. Case 2: a 17-day-old boy presented with poor feeding, tachypnea, and floppiness. On examination, decreased tone in all limbs and power of <2/5 in all limbs with absent reflexes were observed. Routine investigations including serum Creatine phosphokinase of both babies were normal. Muscle biopsy showed features of macrophagic myofasciitis in both infants. Any floppy infant of lower motor neuron type macrophagic myofasciitis should be considered in addition to inherited causes.
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http://dx.doi.org/10.4103/jpn.JPN_141_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847130PMC
November 2020

Levetiracetam versus Fosphenytoin in Pediatric Convulsive Status Epilepticus: A Randomized Controlled Trial.

J Pediatr Neurosci 2020 Jul-Sep;15(3):252-256. Epub 2020 Nov 6.

Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

Objectives: The aim of this study was to compare the efficacy and safety of intravenous levetiracetam and fosphenytoin in the management of pediatric status epilepticus.

Materials And Methods: This is an open-labeled randomized controlled trial, conducted at tertiary care pediatric intensive care unit. Subjects between 1 month and 18 years who presented with status epilepticus were enrolled. If seizures persisted even after two doses of lorazepam, participants were randomized to receive either fosphenytoin 30 mg/kg or levetiracetam 30 mg/kg intravenously and followed up till 48h, for seizure recurrence and adverse drug effects. Outcome measures were cessation of seizures within 10-20 min following the end of the infusion of drugs fosphenytoin and levetiracetam, respectively, and no recurrence of seizures was noted over next 48h.

Results: Subjects in both study groups were comparable in baseline characteristics. Seizures stopped in 54 (93.1%) and 53 (91.4%) in fosphenytoin and levetiracetam groups, respectively ( = 1.000). Seizure recurrence was noted in 13 (22.4%) and 10 (17.2%) patients in fosphenytoin and levetiracetam groups, respectively ( = 0.485). In fosphenytoin group, one (1.7%) child had bradycardia, two (3.4%) children required inotropes, and three (5.2%) children required intubation. In levetiracetam group, none had bradyarrhythmia, required inotropes, and intubation was required in one (1.7%) child each. No statistically significant difference was observed in outcome parameters in two groups.

Conclusion: Levetiracetam is as efficacious as fosphenytoin in control of pediatric status epilepticus and is associated with lesser side effects.
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http://dx.doi.org/10.4103/jpn.JPN_109_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847106PMC
November 2020

Neurological Manifestations of Congenital Cytomegalovirus Infection at a Tertiary Care Centre from Southern India.

J Neurosci Rural Pract 2021 Jan 29;12(1):133-136. Epub 2021 Jan 29.

Department of Radiology, Indira Gandhi Institute of Child health, Bengaluru, Karnataka, India.

 Cytomegalovirus (CMV) is a ubiquitous herpes virus. It is the most common congenital viral infection. Data on congenital CMV in India are lacking and hence the present study was undertaken.  The aim of the study is to evaluate the clinical and radiological profile of neurological manifestations of congenital CMV infections in tertiary care hospital.  This is a retrospective chart review of the clinical and laboratory profile of congenital CMV infections presenting from January 2018 to February 2020 to a tertiary care hospital in Southern India. Details of clinical profile, serological and neuroimaging data were obtained and analyzed.  A total of 42 cases with female preponderance (57%) were reported during the study period. The mean age of presentation was 2.9 years. Clinical features were developmental delay (81%), microcephaly (93%), seizures (33%), intrauterine growth restriction (19%), neonatal encephalopathy (10%), anemia (9%), jaundice (10%), hepato-splenomegaly (7%), and eye abnormalities (14%). Antenatal maternal fever was reported by 12%. Sensorineural hearing loss was present in 57%. Neuroimaging showed periventricular calcification (79%), cerebral atrophy (69%), ventricular dilatation (55%), malformations (26%), dysmyelination (12%), and temporal lobe cysts (5%). CMV-immunoglobulin-M positivity was seen in 14 cases (33%), urinary polymerase chain reaction for CMV was positive in 21 cases (50%), and clinical diagnosis was done in seven cases (16%).  Common findings in congenital CMV are microcephaly, developmental delay, seizures, anemia, and sensorineural hearing loss. Common neuroimaging findings are periventricular calcification, cerebral atrophy, malformation, white matter signal changes, and cysts. CMV can mimic like cerebral palsy, malformations of the brain, demyelinating disorders, and calcified leukoencephalopathies like Aicardi-Goutières syndrome.
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http://dx.doi.org/10.1055/s-0040-1721557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7846325PMC
January 2021

Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children.

Indian J Pediatr 2021 Sep 8;88(9):885-891. Epub 2021 Jan 8.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, India.

Objectives: The study attempts to characterize the clinical, demographic, risk factors, electroencephalographical, and neuroimaging features of hot-water epilepsy (HWE) in children.

Methods: This is a hospital-based observational study in the pediatric neurology clinic and who met the clinical definition of hot-water epilepsy were studied from January 2017 to October 2018. Clinical history, demographic data, and examination findings were recorded in a pre-structured proforma. Electroencephalography (EEG) and neuroimaging were carried out.

Results: A total of 68 children with male to female ratio of 2.4:1 were studied. The most common age of onset of seizures was between 1 and 5 y. Focal seizures with impaired awareness were the most common semiology (48.5%). Abnormal EEG was detected in 13.2% and abnormal neuroimaging in 4.4% which consisted of incidental abnormalities. Nonreflex seizures occurred in 35.3% of the children with HWE and the risk factors associated with this were not statistically significant. Clobazam before taking bath helped to achieve seizure control in 85.7% of the children.

Conclusion: Hot-water epilepsy should be suspected in children who develop seizures following a hot-water bath. The most common age of onset is 1-5 y. EEG and neuroimaging are normal in the majority of cases. Nonreflex seizures occurred in 35.3% of the children.
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http://dx.doi.org/10.1007/s12098-020-03570-yDOI Listing
September 2021

Acute flaccid myelitis: cause, diagnosis, and management.

Lancet 2021 01 23;397(10271):334-346. Epub 2020 Dec 23.

Department of Infectious Diseases, Hospital de Niños "Ricardo Gutiérrez", Buenos Aires, Argentina.

Acute flaccid myelitis (AFM) is a disabling, polio-like illness mainly affecting children. Outbreaks of AFM have occurred across multiple global regions since 2012, and the disease appears to be caused by non-polio enterovirus infection, posing a major public health challenge. The clinical presentation of flaccid and often profound muscle weakness (which can invoke respiratory failure and other critical complications) can mimic several other acute neurological illnesses. There is no single sensitive and specific test for AFM, and the diagnosis relies on identification of several important clinical, neuroimaging, and cerebrospinal fluid characteristics. Following the acute phase of AFM, patients typically have substantial residual disability and unique long-term rehabilitation needs. In this Review we describe the epidemiology, clinical features, course, and outcomes of AFM to help to guide diagnosis, management, and rehabilitation. Future research directions include further studies evaluating host and pathogen factors, including investigations into genetic, viral, and immunological features of affected patients, host-virus interactions, and investigations of targeted therapeutic approaches to improve the long-term outcomes in this population.
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http://dx.doi.org/10.1016/S0140-6736(20)32723-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727PMC
January 2021

Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.

Eur J Neurol 2021 03 5;28(3):945-954. Epub 2021 Jan 5.

School of Biotechnology, Madurai Kamaraj University, Madurai, India.

Background: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness and respiratory insufficiency. Mutations in SLC52A2 (hRFVT-2) or SLC52A3 (hRFVT-3) genes can be responsible for these disorders with an autosomal recessive pattern of inheritance. The aim of this study was to screen for mutations in SLC52A2 and SLC52A3 among Indian families diagnosed with BVVLS and FLD.

Methods: SLC52A2 and SLC52A3 were screened in one FLD and three BVVLS patients by exon-specific amplification using PCR and sequencing. In silico predictions using bioinformatics tools and confocal imaging using HEK-293 cells were performed to determine the functional impact of identified mutations.

Results: Genetic analysis of a mother and son with BVVLS was identified with a novel homozygous mutation c.710C>T (p.Ala237Val) in SLC52A3. This variant was found to have an autosomal pseudodominant pattern of inheritance, which was neither listed in the Exome Variant Server or in the 1000 Genomes Project database. In silico analysis and confocal imaging of the p.Ala237Val variant showed higher degree of disorderness in hRFVT-3 that could affect riboflavin transport. Furthermore, a common homozygous mutation c.62A>G (p.Asn21Ser) was identified in other BVVLS and FLD patients. Despite having different clinical phenotypes, both BVVLS and FLD can be attributed to this mutation.

Conclusion: A rare and peculiar pattern of autosomal pseudodominant inheritance is observed for the first time in two genetically related BVVLS cases with Indian origin and a common mutation c.62A>G (p.Asn21Ser) in SLC52A3 can be responsible for both BVVLS and FLD with variable phenotypes.
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http://dx.doi.org/10.1111/ene.14682DOI Listing
March 2021

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.

Indian J Pediatr 2021 06 4;88(6):586-588. Epub 2020 Nov 4.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

Hereditary folate malabsorption (HFM) is a rare disorder of proton-coupled folate transporter deficiency. It is characterized by macrocytic anemia, recurrent infections, and epilepsy. A five-year-old girl presented with recurrent pneumonia, diarrhea, and mouth ulcers. On examination, pallor, microcephaly with spastic quadriparesis was noted. On investigations, leukopenia and thrombocytopenia with megaloblastic bone marrow picture and low folate levels was found. HFM was diagnosed at two years of age and the child was treated with folinic acid. Her diagnosis was confirmed by whole-exome sequencing which revealed a novel pathogenic homozygous frameshift insertion variation (c.620dupG) in the exon 2 of the SLC46A1 gene which was further confirmed by Sanger sequencing. The child improved significantly except for a partial improvement in neurological symptoms.
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http://dx.doi.org/10.1007/s12098-020-03548-wDOI Listing
June 2021

CASPR2-Mediated Autoimmune Encephalitis in a Toddler.

Indian Pediatr 2020 08;57(8):757-758

Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS); Bengaluru, Karnataka, India.

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August 2020

Horizontal Gaze Palsy with Progressive Kyphoscoliosis.

Indian J Pediatr 2021 07 21;88(7):728-729. Epub 2020 Jul 21.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-020-03449-yDOI Listing
July 2021

Sotos Syndrome Presenting without Gigantism.

Indian J Pediatr 2021 02 16;88(2):169. Epub 2020 Jun 16.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, India.

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http://dx.doi.org/10.1007/s12098-020-03406-9DOI Listing
February 2021

Seropositive Anti-NMDAR Mediated Autoimmune Encephalitis.

Indian J Pediatr 2020 Nov 13;87(11):961. Epub 2020 May 13.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-020-03312-0DOI Listing
November 2020

KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

Epilepsia 2020 04 13;61(4):679-692. Epub 2020 Mar 13.

Neurology Division, Department of Pediatrics, Lady Harding Medical College and Kalawati Saran Children's Hospital, New Delhi, India.

Objective: Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants.

Methods: A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics.

Results: Twenty-seven children (15 males, mean age = 40.8 months) were included. Seizure onset ranged from 1 day to 6 months, and half (48.1%) exhibited developmental plateauing upon onset. Two-thirds had epilepsy of infancy with migrating focal seizures (EIMFS), and focal tonic seizures were common (48.1%). The most frequent recurrent KCNT1 variants were c.2800G>A; p.Ala934Thr (n = 5) and c.862G>A; p.Gly288Ser (n = 4). De novo variants were found in 96% of tested parents (23/24). Sixty percent had abnormal magnetic resonance imaging (MRI) findings. Delayed myelination, thin corpus callosum, and brain atrophy were the most common. One child had gray-white matter interface indistinctness, suggesting a malformation of cortical development. Several antiepileptic drugs (mean = 7.4/patient) were tried, with no consistent response to any one agent. Eleven tried quinidine; 45% had marked (>50% seizure reduction) or some improvement (25%-50% seizure reduction). Seven used cannabidiol; 71% experienced marked or some improvement. Fourteen tried diet therapies; 57% had marked or some improvement. When comparing the recurrent variants to the rest of the cohort with respect to developmental trajectory, presence of EIMFS, >500 seizures/mo, abnormal MRI, and treatment response, there were no statistically significant differences. Four patients died (15%), none of sudden unexpected death in epilepsy.

Significance: Our cohort reinforces common aspects of this highly pleiotropic entity. EIMFS manifesting with refractory tonic seizures was the most common. Cannabidiol, diet therapy, and quinidine seem to offer the best chances of seizure reduction, although evidence-based practice is still unavailable.
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http://dx.doi.org/10.1111/epi.16480DOI Listing
April 2020

Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant.

Indian J Pediatr 2021 03 12;88(3):312-313. Epub 2020 Mar 12.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-020-03253-8DOI Listing
March 2021

Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms.

Indian J Pediatr 2020 Oct 6;87(10):871-872. Epub 2020 Mar 6.

Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

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http://dx.doi.org/10.1007/s12098-020-03254-7DOI Listing
October 2020
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