Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series

Area of Science:

• Biochemistry
• Genetics
• Pediatric Neurology

Background:

• Epilepsy, especially early-onset and drug-resistant forms, poses a significant challenge in pediatric neurology.
• Inborn errors of metabolism are increasingly recognized as causes of these epilepsy types.
• CAD deficiency is a severe metabolic disorder characterized by seizures, psychomotor regression, and anemia, caused by variants in the CAD gene.

Purpose of the Study:

• To present new cases of Early Infantile Epileptic Encephalopathy-50 (EIEE-50).
• To emphasize the importance of early and specific therapeutic interventions for EIEE-50.
• To highlight the potential of uridine supplementation as a treatment.

Main Methods:

• Presentation of four new cases of EIEE-50.
• Administration of oral uridine (100 mg/kg/day).
• Monitoring of clinical outcomes, including motor and cognitive function, and seizure control.

Main Results:

• Oral uridine administration led to improvements in motor and cognitive function.
• Seizures were immediately controlled following uridine supplementation.
• The study reinforces the efficacy of uridine in managing EIEE-50.

Conclusions:

• Timely diagnosis and targeted treatment strategies can improve outcomes for EIEE-50.
• Uridine supplementation is a promising therapeutic approach for CAD deficiency.
• Early intervention is crucial for preventing irreversible metabolic damage and improving clinical outcomes.