A Prospective Hospital-Based Study on the Clinico-Etiological Profile of the First Episode of a Seizure in Children.

Background  This study aims to examine the clinico-etiological profile of children with the first episode of a seizure and categorize seizure types based on age groups in a tertiary care hospital. Methodology  This was a prospective observational study conducted at a tertiary care medical institute in India over two years. Children (one month to 12 years of age) with the first episode of a seizure were included in the study population. The data collected included demographic profile, history, examination, biochemical profile, electroencephalogram (EEG), and neuroimaging. Children were categorized as generalized-onset, focal-onset, and unknown-onset seizures based on the International League Against Epilepsy 2017 seizure classification. Children were also classified according to specific etiologies such as structural, metabolic, or other specific causes. All the children were followed up at the hospital's outpatient clinic or through a telephonic interview. Results  A total of 220 children were examined in this study. Among them, 64% were male and 36% were female, with a male-to-female ratio of 1.75:1. Among the 220 children, 21.8% had a family history of seizure. The most common type of seizures were generalized-onset seizures (n = 110, 50%), followed by focal-onset seizures (n = 96, 43.6%). Overall, 9% of children presented with status epilepticus as their first-episode seizure. An abnormal EEG was recorded for 122 (76%) children. While 60% of children had abnormal neuroimaging findings, the remaining had normal neuroimaging. Febrile seizures (n = 92, 41.9%) were the most common cause of the first episode of a seizure. Most of the febrile seizures occurred between the age of one and four (n = 60, 65.2%). Epilepsy syndromes were the second most common etiology, followed by central nervous system (CNS) infections, structural brain abnormalities, metabolic disorders, vascular lesions, toxins, and immune-mediated causes, in that order. In 14 (6.36%) children, the etiology was unknown at the time of the study. Conclusions First-episode seizures in children cause physical, mental, and financial stress on the parents. The collection of detailed history, examinations, and appropriate investigations can help identify the etiology of seizures. It was possible to determine the etiology of the first episode of a seizure in the majority of the patients. Generalized-onset seizures were the most common. Febrile seizures, epilepsy syndrome, CNS infections, vascular lesions, and metabolic disorders were the main etiological factors, in that order.

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy.

The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.

Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene.

3-Methylglutaconic aciduria type I (3-MGA I) is a rare inherited disorder of the leucine metabolism pathway due to mutations in the AUH gene for 3-methylglutaconyl-CoA hydratase enzyme and enzyme deficiency. It has a variable phenotypic presentation from infancy to adulthood. Here, we report a three-year-old female patient with normal development presented with acute encephalopathy and status dystonicus. Neuroimaging was normal. Urine organic acid analysis showed high levels of 3-methylglutaconic acid, 3-hydroxyisovaleric acid. Next-generation sequencing revealed a novel homozygous mutation of variant c.505+1G>C (5' splice site) in intron 4 of the AUH gene that was compatible with the diagnosis of 3-MGA I. The child was asymptomatic on follow-up with a low leucine diet. Clinicians should suspect rare inherited metabolic disorders in acute onset unexplainable neurological symptoms and evaluate with urine organic acid analysis.

Evaluation of trace metals in seawater, sediments, and bivalves of Nellore, southeast coast of India, by using multivariate and ecological tool.

Urbanization in recent years has driven us to investigate metal contamination on Nellore coast by collecting seawater, sediment, and bivalve samples monthly at five stations from 2015 to 2017. Non-metric multidimensional scaling and cluster analysis indicated that open sea (OS) samples were markedly different from the samples collected at other stations. Strong factor loadings of Al (0.76), Mn (0.79), and Cd (0.78) showed variability in seawater, while those for Fe (0.76), Ni (0.77), Zn (0.85), and Pb (0.81) showed variability in sediment. The mean values of Fe (346 ppm) and Mn (21 ppm) were high in bivalves compared to the mean values of other metals. A higher contamination factor was observed for Cd at Buckingham Canal, while the lowest was observed for sediment in OS. The order of trace metals in sediments according to risk index was Cd > Pb > Cu > Cr > Zn. The results obtained are essential to establish a reference for better comparison of tropical environments.

Biomonitoring of heavy metals in feathers of eleven common bird species in urban and rural environments of Tiruchirappalli, India.

Heavy metals continue to remain as a major environmental concern in spite of emission control measures. In this study, we analyzed the concentrations of heavy metals (Fe, Cr, Mn, Ni, Cu, Zn, and Cd) in the feathers of 11 species of birds collected from urban and rural areas of Tiruchirappalli, Southern India. Metal concentrations followed the order: Fe > Cu > Zn > Cr > Mn > Ni > Cd. Irrespective of sample locations, heavy metals such as Fe, Cr, Ni, Zn, and Cu were detected in high concentrations, while Cd and Mn were observed in lower concentrations. In contrary to our assumption, there were no statistically significant intraspecific and urban-rural differences in the metal concentrations except for Zn. Pairwise comparisons among species irrespective of metal type showed significant interspecific differences between Acridotheres tristis and Centropus phasianinus, A. tristis and Milvus migrans, C. phasianinus and M. migrans, M. migrans and Eudynamys scolopaceus, and Psittacula krameri and E. scolopaceus. Principal component analysis carried out for urban data extracted Ni, Mn, Zn, Fe, and Cu accounting for 48% variance implying dietary intake and external contamination as important sources for metals. In the rural, association of Zn, Cd, Ni, and Cr suggests the impact of metal fabrication industries and leather tanning operations.