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Background Pediatric epilepsy is associated with various comorbidities. It is known that children with epilepsy have a compromised health-related quality of life (QOL) and may be affected across physical, psychological, social, and educational domains. Aims and Objectives (1) To study QOL in children with epilepsy from private and public outpatient departments, (2) study various risk factors affecting QOL, and (3) compare risk factors between groups. Methods Sample consisted of 400 and 201 children aged 5 to 18 years from private and public settings with epilepsy taking antiepileptic drugs (AEDs) for at least 6 months. Structured case record form was used to collect data on sociodemographic, clinical, and treatment parameters. QOL was measured by the Pediatric Quality of Life Inventory (PedsQL) questionnaire (in the local language). Adverse effects were monitored by Pediatric Epilepsy Side Effects Questionnaire (PESQ). Univariate regression analysis was performed on the data (p < 0.005). Results Overall PedsQL score was 67.21 ± 29.391 and 78.66 ± 9.161 in private and public settings, respectively (p = 0.000). QOL was affected significantly by age of the child, educational and economic background of the caregivers, age at the onset of epilepsy, seizure frequency, duration of treatment, number of drugs, presence of comorbidities, intelligence quotient (IQ) levels of children, and PESQ score in both the groups. Total PESQ score was 18.63 ± 17.02 and 7.69 ± 10.646 in private and public settings, respectively (p = 0.000). Conclusions Children with epilepsy have a compromised QOL. Risk factors relating to QOL are numerous. Educational and economic status of caregivers plays a significant role in awareness of the problem. AbstractKeywords ► quality of life ► adverse effects ► pediatric epilepsy ► private and public tertiary care centers Int

Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.

Patients with Friedreich's ataxia (FA) are at an increased risk of developing diabetes mellitus and glucose intolerance. Diabetes usually develops many years after the initial presentation. We report an 8-year-old girl who initially presented with diabetic ketoacidosis and was treated as a case of insulin-dependent diabetes mellitus. Around a year later, she developed gait problems and ataxia. Cardiac involvement was detected on echocardiography. Genetic testing confirmed the diagnosis of FA. FA should be a diagnostic consideration in children presenting with diabetes and neurological issues, even with early presentation of the former. Early occurrence of diabetes and rapid progression of ataxia in this patient needs a better understanding of underlying genetic mechanisms.

Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be efficient in seizure control and prevents further cognitive injury and developmental delay. We report a case of HME, who underwent a two-stage hemispherotomy due to complications in the first surgery. She had more than 90% reduction of seizures with good developmental outcome on follow-up. Thus, despite risks of the procedure, early surgery should be preferred in infants with HME.

Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a syndrome of encephalopathy characterized by biphasic seizures and altered consciousness in the acute stage followed in the subacute stage by restricted diffusion in the subcortical white matter on magnetic resonance imaging. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. The exact pathogenesis of AESD is uncertain. Here we report a case of AESD, diagnosed based on clinicoradiological correlation.

Opsoclonus–myoclonus–ataxia (OMA) syndrome typically presents with chaotic eye movements and myoclonus with some patients exhibiting ataxia and behavioural disturbances. The pathogenesis may be inflammatory with an infectious or paraneoplastic trigger. We present a 13-year-old HIV-infected girl who was initially started on highly active antiretroviral therapy (HAART) in March 2013 with a CD4 count of 79 cells/cumm. Initially, the patient did not comply with treatment, resulting in a CD4+ count of 77 cells/mm3 in November 2015 and prompting a new HAART scheme comprising lamivudine, tenofovir and ritonavir-boosted atazanavir. Shortly after starting this scheme, she developed OMA syndrome in January 2016. She was treated with intravenous immunoglobulin and methylprednisolone followed by oral steroids along with oral clonazepam and gradually recovered. We suggest immune reconstitution inflammatory syndrome as a possible aetiology of OMA in HIV-infected children.

Brown–Vialetto–Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter genes. We describe a child with genetically proven BVVL syndrome where prompt treatment with riboflavin showed good results.