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Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation

Alexandria L Spurgeon1, Shannon F Keaveney1, Yu-Tze Ng2

  • 1University of Missouri School of Medicine, Columbia, MO, USA.

Child Neurology Open
|July 13, 2023
PubMed

Insights

Jeavons syndrome, characterized by eyelid myoclonia and seizures, can begin at birth. Genetic testing identified a PLCB1 gene mutation as a cause, emphasizing its importance in diagnosing and treating epilepsy.

Area of Science:

  • Neurology
  • Clinical Genetics
  • Epileptology

Background:

  • Jeavons syndrome is an epileptic disorder often misdiagnosed, characterized by eyelid myoclonia, absence seizures, eye closure-induced EEG abnormalities, and photosensitivity.
  • Early diagnosis and understanding the genetic underpinnings are crucial for effective management.

Purpose of the Study:

  • To present a case of Jeavons syndrome with onset from birth.
  • To identify a novel genetic etiology for Jeavons syndrome.
  • To underscore the significance of genetic testing in epilepsy.

Main Methods:

  • Case report of a seven-year-old female with lifelong eyelid myoclonia, absence seizures, and photosensitivity.
  • Diagnosis confirmed via EEG with photic stimulation.
  • Genetic analysis to identify mutations in epilepsy-related genes.

Main Results:

  • The patient was diagnosed with Jeavons syndrome.
  • Genetic testing revealed a heterozygous mutation in the PLCB1 gene.
  • This finding links PLCB1 mutations to Jeavons syndrome and suggests onset from birth.

Conclusions:

  • The PLCB1 gene mutation represents a newly identified etiology for Jeavons syndrome.
  • Jeavons syndrome can manifest from birth, challenging previous assumptions.
  • Genetic testing is vital for comprehensive epilepsy evaluation and personalized treatment.

Keywords:
absence seizuresepilepsy with eyelid myocloniaethosuximideeye tictopiramate

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