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Child Neurology: Initial Presentation of PCDH19-Related Epilepsy With New-Onset Refractory Status Epilepticus and
Robin T Varughese1, Shefali Karkare1, Annapurna Poduri1
1From the Division of Pediatric Neurology (R.T.V., S.K., S.V.K.), Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY; and Departments of Neurology (A.P.), Boston Children's Hospital and Harvard Medical School, Boston, MA.
Insights
PCDH19-related epilepsy, a severe developmental encephalopathy, can be triggered by vaccine-induced cytokine storms. Anakinra treatment reduced cytokine levels and seizures in a patient with PCDH19 epilepsy.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- PCDH19-related epilepsy is a severe developmental and epileptic encephalopathy.
- It typically presents with epilepsy and intellectual disability, often with seizures in clusters, sometimes triggered by fever.
Observation:
- A 7-month-old girl developed refractory status epilepticus after routine vaccination, associated with a cytokine storm.
- Genetic testing revealed a pathogenic variant in the PCDH19 gene.
- The patient exhibited elevated serum and cerebrospinal fluid (CSF) cytokine levels.
Findings:
- The patient required multiple antiseizure medications and pentobarbital-induced burst suppression.
- Treatment with anakinra, an interleukin-1 receptor antagonist, was initiated and titrated based on cytokine levels.
- Anakinra administration led to reduced cytokine levels and significant seizure reduction.
Implications:
- This case highlights a potential link between PCDH19 epilepsy, vaccine administration, and cytokine storm.
- Targeting the interleukin-1 pathway with anakinra may be a viable therapeutic strategy for managing refractory PCDH19 epilepsy.
- Further research is warranted to explore the immunomodulatory aspects of PCDH19-related epilepsy.
Abstract:
PCDH19-related epilepsy is a developmental and epileptic encephalopathy typically presenting with epilepsy and varying degrees of intellectual disability. Seizures typically present in clusters of focal or generalized seizures, sometimes in the setting of fever. We present the case of a 7-month-old girl presenting with new-onset refractory status epilepticus that followed routine vaccine administration and ensuing cytokine storm. She was diagnosed with a pathogenic variant in PCDH19 The patient required 5 antiseizure medications and pentobarbital-induced burst suppression for control of seizures. She was noted to have elevated serum cytokine levels (interleukin [IL]-2, IL-4, IL-10, IL-13, IL-17, IL-1, IL-1β, and IL-8) and CSF cytokine levels (IL-6 and IL-13). Anakinra was initiated and titrated based on serial cytokine levels, with doses ranging from 5 to 20 mg/kg/d resulting in reduction in cytokine levels and seizure reduction. By age 14 months, she was able to be maintained on 3 active antiseizure medications and ketogenic diet for seizure control.
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