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Related Concept Videos

Seizures: Classification01:13

Seizures: Classification

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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
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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.

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|September 3, 2020
PubMed
Summary
This summary is machine-generated.

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.

Keywords:
POLG-related epilepsyRasmussen encephalitisautoimmune epilepsyepilepsia partialis continuamitochondrial diseases

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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.