Abstract Details

The evolution of status epilepticus in a child with DNM1L Developmental and Epileptic encephalopathy (DEE) characterised by continuous EEG monitoring

This is a case study describing the onset of non-convulsive status epilepticus (NCSE) in a 10 year-old female child and its evolution to convulsive status epilepticus (CSE) during home video EEG telemetry monitoring (HVET). The child was attended to by emergency services and then admitted to Paediatric intensive care (PICU) whilst being monitored.  In PICU long term video EEG monitoring continued with additional quantitative EEG (qEEG) to assess the response to anti-convulsant medications. The longitudinal video EEG data will be presented.

Our patient is under foster care and her initial antecedent history was unclear on admission. She was known to have global developmental delay and epilepsy was on multiple anti-convulsants. She had a history of a previous 6-month admission to a PICU outside our region, 5 years earlier. The home video telemetry was requested to assess the nature of different types of reported events.  Previous EEG results from earlier PICU admission helped guide the management and the similarities seen raised the possibility of an underlying genetic aetiology. Trio exome next generation sequencing detected a likely pathogenic De novo variant of DNMA1 (Lys38Asn). There is now a growing literature in the clinical symptomatology and pathophysiology associated with DNM1L gene variants, however overall, this remains a rare clinical entity. Genetic mutations in this gene have been associated with developmental delay, encephalopathy, refractory epilepsy and progressive diffuse cerebral atrophy, amongst other clinical manifestations.

This case study provides valuable insights into the neurophysiology and evolution of status epilepticus in DEE and highlights how continuous video EEG monitoring can help in facilitating the diagnosis and tailor the management of these challenging cases.

TitleForenamesSurnameInstitutionLead AuthorPresenter
DrGiuliaAttard NavarroKing's College Hospital
DrDavid AllenUniversity Hospital Southampton
Dr ZaloaAgirreEvelina London Children's Hospital
DrShanTanEvelina London Children's Hospital
DrSushmaGoyalEvelina London Children's Hospital
Reference
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