Objectives To describe the epidemiological and clinical characteristics and outcome of hospitalized children with COVID-19 during the initial phase of the pandemic. Methods This was a cross-sectional descriptive study conducted at the dedicated COVID-19 hospital of a tertiary care referral center in North India. Consecutive children aged 14 y or younger who tested positive for SARS-CoV-2 by RT-PCR from nasopharyngeal swab between 1 April 2020 and 15 July 2020 were included. Results Of 31 children with median (IQR) age of 33 (9-96) mo, 9 (29%) were infants. About 74% (n = 23) had history of household contact. Comorbidities were noted in 6 (19%) children. More than half (58%) were asymptomatic. Of 13 symptomatic children, median (IQR) duration of symptoms was 2 (1-5.5) d. Fever (32%) was most common followed by cough (19%), rapid breathing (13%), diarrhea (10%) and vomiting (10%). Severe [n = 4, 13%] and critical [n = 1, 3%] illnesses were noted more commonly in infants with comorbidities. Three (10%) children required PICU admission and invasive ventilation; one died. Median (IQR) length of hospital stay was 15 (11-20) d. Follow up RT-PCR before discharge was performed in 17 children and the median (IQR) duration to RT-PCR negativity was 16 (12-19) d. Conclusions In the early pandemic, most children with COVID-19 had a household contact and presented with asymptomatic or mild illness. Severe and critical illness were observed in young infants and those with comorbidities.

Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Methods Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset <15 years were eligible. Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalmoplegia. Results A total of 3729 genetic reports and 4256 hospital records were screened. Twenty-two patients with pathogenic variants were included. Phenotypically, patients were classifiable into Alpers-Huttenlocher syndrome (8/22; 36.4%), progressive external ophthalmoplegia (8/22; 36.4%), Leigh disease (2/22; 9.1%), ataxia-neuropathy spectrum (2/22; 9.1%), and unclassified (2/22; 9.1%). The prominent clinical manifestations included developmental delay (n = 14; 63.7%), neuroregression (n = 14; 63.7%), encephalopathy (n = 11; 50%), epilepsy (n = 11; 50%), ophthalmoplegia (n = 8; 36.4%), and liver dysfunction (n = 8; 36.4%). Forty-four pathogenic variants were identified at 13 loci, and these were clustered at exonuclease (18/44; 40.9%), linker (13/44; 29.5%), polymerase (10/44; 22.7%), and N-terminal domains (3/44; 6.8%). Genotype-phenotype analysis suggested that serious outcomes including neuroregression (odds ratio [OR] 11, 95% CI 2.5, 41), epilepsy (OR 9, 95% CI 2.4, 39), encephalopathy (OR 5.7, 95% CI 1.4, 19), and hepatic dysfunction (OR 4.6, 95% CI 21.3, 15) were associated with at least 1 variant involving linker or polymerase domain. Conclusions We describe the clinical subgroups and their associations with different POLG domains. These can aid in the development of follow-up and management strategies of presymptomatic individuals.

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This study aimed to determine the seropositivity of myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) and aquaporin-4 antibodies (AQP4-Ab) and outcomes in children with acquired demyelinating syndromes (ADS). Children (6months-15years) with suspected ADS were enrolled and tested for MOG-Ab and AQP4-Ab prospectively over 18 months at a tertiary-care hospital in North India. Children with proven non-immune mediated neurological disorders were enrolled as controls. Of 79 children with suspected ADS, 66 were enrolled. Among the enrolled children with ADS, ADEM (25) was the commonest first clinical event followed by ON (20) and TM [19; one child had ON and TM simultaneously (NMOSD)], while two children had CIS apart from ON and TM. Fourteen (21.2%, CI 11.3-31.1) tested positive for one antibody [12 (18.1%; 95% CI 10.5-25.5%) for MOG-Ab and two (3%; 95% CI 0-7.2%) for AQP4-Ab]. None of the 62 controls tested positive for any antibody. The final diagnosis in those with the monophasic ADS was ADEM (21), ON (13), TM (16), and other CIS (1) while that in children with recurrent events was MDEM (2), NMOSD (3), ADEM-ON (4), recurrent ON (4), and MS (2). Among those with the first event, 4/51 (7.8%; 95%CI 0.5-15.2%) were MOG-Ab positive and two AQP4-Ab positive, whereas, 8/15 [53.3%, (95%CI: 28.1-78.6%)] with recurrent events [MDEM (2), ADEM-ON (4), recurrent ON (1), and recurrent TM (1)] were MOG-Ab positive. Hence, MOG-Ab are the most common antibodies detected in one in five children with pediatric ADS, especially in relapsing disease. AQP4-Ab are rare in children with ADS.

ObjectivesTo study the course of West syndrome (WS) and coronavirus disease-19 in children with WS who contracted SARS-CoV-2 infection. Methods This ambispective study was conducted at a tertiary-care center in North India between December 2020 and August 2021 after approval from the Institute Ethics Committee. Five children with WS, positive for COVID-19 based on RT-PCR, fulfilled the inclusion criteria. Results One child with COVID-19 during the first wave was retrospectively included while four children (of the 70 children screened) were prospectively enrolled. The median age at onset of epileptic spasms was 7 mo (2 boys), and that at presentation with COVID-19 was 18.5 mo. Three had underlying acquired structural etiology. Three were in remission following standard therapy, while two had ongoing spasms at the time of COVID-19 illness. During the illness, two of those in remission continued to be in remission while one child had a relapse. The children with ongoing epileptic spasms had variable course [one had persistent spasms and other had transient cessation lasting 3 wk from day 2 of COVID-19 illness, but electroencephalography (on day 8 of COVID-19 illness) continued to show hypsarrhythmia]. Fever was the most typical symptom (and sometimes the only symptom) of COVID-19, with a duration ranging from 1-8 d. Two children had moderate COVID-19 illness requiring hospitalization, while the rest had a mild illness. All the affected children had complete recovery from COVID-19. ConclusionThe severity of COVID-19 illness in children with WS is often mild, while the subsequent course of WS is variable.

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Vitamin responsive conditions can be either due to inherited defects in the metabolic pathways resulting in vitamin dependency or due to acquired deficiency states. Due to widespread malnutrition and predominantly vegetarian population in India, vitamin deficiency state is quite common and early identification is essential. Inherited defects, if treated earlier, lead to reduced morbidity and mortality and improvement in long-term neurocognitive outcomes. Various vitamin responsive conditions in pediatric neurology shall be discussed in this review. Infantile presentation of thiamine deficiency results in beriberi, and in adults, it leads to Wernicke’s encephalopathy and Korsakoff psychosis. Biotin thiamine-responsive basal ganglia disease is a defect of thiamine transporter 2, which leads to neuroregression and characteristic neuroimaging features of basal ganglia involvement, it responds to high doses of biotin and thiamine. Riboflavin is an enzyme involved in mitochondrial energy synthesis and is supplemented in various mitochondrial metabolic conditions. Brown-Vialetto-Van Laere syndrome is progressive pontobulbar palsy caused by defect in riboflavin transporters responsive to high doses of riboflavin. Pyridoxine responsive epilepsy presents with pharmacoresistant seizures in neonatal or early infantile age, biotinidase deficiency also presents with similar neurological manifestations, but typical cutaneous symptoms of rash and seborrheic dermatitis also occur. Both are epileptic encephalopathies and any infant presenting with epilepsy not responding to conventional AEDs must be given a trial of pyridoxine, biotin, and folinic acid. Vitamin B12 responsive conditions can include deficiency states, such as those manifesting with peripheral neuropathy and the syndrome of infantile tremor syndrome (developmental delay or regression, tremors, and megaloblastic anemia) as well as inherited disorders of homocysteine and cobalamin metabolism. These disorders are differentiated on the basis of clinical phenotype and laboratory parameters (serum B12, homocysteine levels, methylmalonic acid levels, etc.). Infantile tremor syndrome responds drastically to mega doses of Vitamin B12 and other multivitamins. Vitamin E deficiency causes ataxia with Vitamin E deficiency, other vitamins which can neurological symptoms include Vitamin C (pseudoparalysis) and Vitamin K (central nervous system bleeds). It is imperative for a practicing pediatrician to be well versed with these conditions, as these are potentially treatable conditions.