RESUMEN
Developmental epileptic encephalopathy (DEE) is a group of ictal and interictal epileptiform disorders (clinical and encephalographic) associated with severe cognitive and behavioural impairments according to the classification and terminology criteria of the international league against epilepsy (ILAE). Less than half of the genetic etiologies have been identified, even though DEEs are genetically heterogenous. Hence, genetic diagnoses of childhood neurological disorders are important as well as challenging. This research aims at determining the diagnostic utility of genetic testing (whole exome sequencing) in heterogeneous group of childhood DEEs. Here, we present the case series of 5 children who have had at least 1 episode of seizure during their lifetime associated with developmental delay and a definite genetic etiology. In view of an unrecognised aetiology, parents were counselled for a genetic evaluation. Genetic test reports showed pathogenic gene variation for epilepsy. Even though intervention would be mostly be the same, genetic aetiology helped us in prognosticating and improving the family抯 outlook towards the disease condition. Hence it is desirable to identify genetic variations in all possible childhood epilepsy cases as it has the potential to improve family planning, aid the prognosis, and start specific interventions and also helps to save time in selecting appropriate anti-epileptic drugs.
RESUMEN
Eosinophilic meningitis is a rare form of meningitis, usually caused by helminthic infection and the most common agent is Angiostrongylus cantonensis. It has a variable clinical presentation that ranges from cranial nerve abnormalities, ataxia, meningitis, encephalitis and rarely death. As the literature and reviews on this topic are rare, the standard treatment for eosinophilic meningitis caused by A. cantonensis infection has always been controversial. There is evidence that a 2-week course of high dose corticosteroid along with albendazole have helped in management. Here we discuss the case of a toddler with eosinophilic meningitis with Angiostrongylus species.