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
Summary
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.
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