Clinical Characteristics and Treatment Outcome of Eosinophilic Meningoencephalitis in South Indian Children: Experience From a Prospective Registry.

BACKGROUND: To describe the clinical features and therapeutic outcomes of a prospective cohort of children with eosinophilic meningoencephalitis. METHODS: Children admitted with clinical features suggestive of meningitis along with cerebrospinal fluid (CSF) eosinophilia during the period of 14 years (2008 to 2021) were included. Their baseline characteristics, epidemiologic associations, and treatment outcomes were analyzed and compared with the previous studies. RESULTS: We identified 25 children (13 males) satisfying the inclusion criteria. The median age at presentation was 3.9 years (range 0.8 to 17 years); 68% were aged less than two years. Fourteen (56%) children had a history of exposure to snails. Most of them presented with fever, headache, irritability, lateral rectus palsy, and early papilledema. Symptoms started three to 42 days (median duration: 14 days) before admission to our center. All children had peripheral eosinophilia, which ranged from 9% to 41%. The mean CSF white blood cell count was 416/mm3 (range 50 to 1245 cells/mm3) with CSF eosinophilia ranging from 11% to 80%. Brain magnetic resonance imaging was done in 24 children and was normal in 15 (62.5%). Leptomeningeal enhancement was seen in two (8.3%) children, and other nonspecific changes were noted in seven (29.1%) children. All children recovered without any neurological deficits with a standard treatment regimen of albendazole and oral steroids. All were asymptomatic at the last follow-up. None of them had any recurrence during the follow-up period. CONCLUSION: We report one of the largest clinical series of children with eosinophilic meningoencephalitis from an endemic area of South India.

Hyperekplexia: A Treatable Seizure Mimicker in Infants.

Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy. Next-generation sequencing revealed a pathogenic homozygous missense mutation of variant c.1259C>A in exon 9 of the GLRA1 gene that was compatible with the diagnosis of hyperekplexia-1.

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.

Eucalyptus Oil-Induced Seizures in Children: Case Reports and Review of the Literature.

Objective Eucalyptus oil (EO)-induced seizures (EOIS) in children is a less recognized entity and a rare cause of acute symptomatic seizures. The purpose of this review outlines the clinical features and outcomes of EOIS with observed cases. Patients and Methods We identified three pediatric patients with EOIS who were treated at Prathima Institute of Medical Sciences, Karim Nagar, India. Results Seizures were developed in three children within 15 to 25 minutes after the ingestion of EO. All the children have taken EO first time and all have the first episode of seizures. One child had status epilepticus. Neuroimaging and electroencephalogram were normal. Two children were treated with antiepileptic drugs for 2 weeks. All the children were recovered within 2 days and none of them had a recurrence of seizures. Conclusion EOIS is an underrecognized and rare entity. The knowledge or awareness of EOIS among health care professionals can prevent unnecessary investigations and long-term antiepileptic drug therapy.

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.

Dengue Encephalitis in Children "Not an Uncommon Entity but Is Rarely Thought of": A Case Report.

Dengue fever is a common viral infection in the tropical areas, especially in India. The clinical manifestations of dengue infection are broad-spectrum, ranging from asymptomatic to life-threatening dengue shock syndrome. Usually, the dengue virus does not cause neurologic manifestations, but recently this has been documented in some cases. However, there is increasing evidence for dengue viral neurotropism, suggesting there may be an element of direct encephalitis in some dengue patients. Here we are reporting a case of dengue encephalitis in a 2-year-old female child from rural India who was presented with a history of fever, altered sensorium, and seizures. Blood test results of dengue immunoglobulin M (IgM) antibodies were positive. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with elevated proteins and normal glucose. Neuroimaging was normal. In addition, other causes of encephalitis were ruled out by appropriate laboratory investigations. Our case highlights that dengue encephalitis may present even in the absence of neuroimaging findings with classical clinical signs. Hence, dengue encephalitis should be considered in the differential diagnosis of fever with altered sensorium and seizures, especially in areas where dengue fever is endemic.