Addressing Refractory Seizures from an Endocrine Perspective
Author Information
Author(s): Muacevic Alexander, Adler John R, Sherin Shijiya, Soodhana Dhanya, Mohanlal Smilu, Pachat Divya
Primary Institution: Aster Malabar Institute of Medical Sciences, Kozhikode, IND
Hypothesis
Can metabolic etiologies like hyperinsulinemic hypoglycemia be considered in children with seizures resistant to standard antiepileptic drugs?
Conclusion
The case highlights the importance of early recognition and targeted therapy for achieving seizure control in children with refractory seizures.
Supporting Evidence
- The child had a heterozygous pathogenic mutation in the GLUD1 gene.
- Treatment with diazoxide improved blood sugar levels and seizure control.
- Seizures were initially resistant to standard antiepileptic medications.
Takeaway
A 2-year-old girl with seizures was found to have a genetic condition causing low blood sugar, and treatment helped her stop having seizures.
Methodology
The case involved genetic testing and treatment with diazoxide after identifying a mutation in the GLUD1 gene.
Limitations
The study is based on a single case, which may limit the generalizability of the findings.
Participant Demographics
A 2-year-old girl, born to non-consanguineous parents.
Digital Object Identifier (DOI)
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