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Diagnostic algorithm for children presenting with epilepsia partialis continua
Snehal Surana1, Thomas Rossor1, Jane Hassell1
1Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.
Insights
Epilepsia partialis continua (EPC) in children is often caused by Rasmussen encephalitis (RE) or mitochondrial disorders. Developing a diagnostic algorithm aids in timely and targeted investigations for these rare pediatric epilepsy syndromes.
Area of Science:
- Pediatric Neurology
- Neuroscience
- Epileptology
Background:
- Epilepsia partialis continua (EPC) is a rare and severe form of focal epilepsy characterized by continuous focal seizures.
- Distinguishing the underlying cause of EPC in children is crucial for appropriate management and prognosis.
- Previous studies have not fully characterized the differential diagnoses of EPC in pediatric populations.
Purpose of the Study:
- To characterize a cohort of children with EPC and identify key differential diagnoses.
- To develop a diagnostic algorithm for EPC in children to facilitate timely diagnosis and targeted investigations.
Main Methods:
- Retrospective cohort study of children with EPC presenting to a tertiary pediatric neurology center (2002-2019).
- Clinical data, neuroimaging (MRI), electroencephalogram (EEG), and cerebrospinal fluid (CSF) analysis were reviewed.
- Statistical analysis was performed to identify predictors for specific diagnoses.
Main Results:
- Fifty-four children met EPC criteria. Rasmussen encephalitis (RE) accounted for 56%, mitochondrial disorders for 22.2%, and MRI lesion-positive focal epilepsy for 11.1%.
- Mitochondrial disorders presented earlier and were associated with preceding developmental concerns, no prior seizures, bilateral EEG slowing, and elevated CSF protein.
- MRI findings of hemiatrophy were common in RE, often developing progressively after EPC onset.
Conclusions:
- Children with EPC present with distinct clinical and diagnostic features depending on the underlying etiology, primarily RE or mitochondrial disorders.
- A structured diagnostic algorithm incorporating clinical presentation, EEG, MRI, and genetic testing is essential for efficient diagnosis of pediatric EPC.
Objective:
To characterize a cohort of children with epilepsia partialis continua (EPC) and develop a diagnostic algorithm incorporating key differential diagnoses.
Methods:
Children presenting with EPC to a tertiary pediatric neurology center between 2002 and 2019 were characterized.
Results:
Fifty-four children fulfilled EPC criteria. Median age at onset was 7 years (range 0.6-15), with median follow-up of 4.3 years (range 0.2-16). The diagnosis was Rasmussen encephalitis (RE) in 30 of 54 (56%), a mitochondrial disorder in 12 of 54 (22.2%), and magnetic resonance imaging (MRI) lesion-positive focal epilepsy in 6 of 54 (11.1%). No diagnosis was made in 5 of 54 (9%). Children with mitochondrial disorders developed EPC earlier; each additional year at presentation reduced the odds of a mitochondrial diagnosis by 26% (P = .02). Preceding developmental concerns (odds ratio [OR] 22, P < .001), no seizures prior to EPC (OR 22, P < .001), bilateral slowing on electroencephalogram (EEG) (OR 26, P < .001), and increased cerebrospinal fluid (CSF) protein level (OR 16) predicted a mitochondrial disorder. Asymmetry or hemiatrophy was evident on MRI at presentation with EPC in 18 of 30 (60%) children with RE, and in the remainder at a median of 6 months (range 3-15) after EPC onset. The first diagnostic test is brain MRI. Hemiatrophy may permit a diagnosis of RE with unilateral clinical and EEG findings. For children in whom a diagnosis of RE cannot be made on first scan but the clinical and radiological presentation resembles RE, repeat imaging every 6 months is recommended to detect progressive unicortical hemiatrophy, and brain biopsy should be considered. Evidence of intrathecal inflammation (oligoclonal bands and raised neopterin) can be supportive. In children with bihemispheric EPC, rapid polymerase gamma testing is recommended and if negative, sequencing mtDNA and whole-exome sequencing on blood-derived DNA should be performed.
Significance:
Children presenting with EPC due to a mitochondrial disorder show clinical features distinguishing them from RE and structural epilepsies. A diagnostic algorithm for children with EPC will allow targeted investigation and timely diagnosis.
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