Long-term outcome in children with intractable epilepsy showing bilateral diffuse cortical glucose hypometabolism
Varun Shandal1, Amy L Veenstra, Michael Behen
1Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, USA.
Insights
Children with intractable epilepsy and diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans face poor long-term outcomes. Most experience significant developmental and neurological challenges, often linked to underlying genetic conditions.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Epileptology
Background:
- Intractable epilepsy in children presents significant management challenges.
- Diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans may indicate a severe underlying pathology.
- Long-term outcomes for this specific patient group are not well-established.
Purpose of the Study:
- To determine the long-term neurological and developmental outcomes of children with intractable epilepsy and diffuse cortical hypometabolism identified via FDG-PET.
- To explore potential genetic or neurodegenerative causes associated with this imaging finding.
Main Methods:
- Longitudinal follow-up of 17 children with intractable epilepsy and diffuse cortical hypometabolism on FDG-PET.
- Data collection via telephone interviews covering seizure control, developmental milestones, and functional abilities.
- Genetic testing was performed in select cases.
Main Results:
- Only 2 out of 17 children achieved seizure freedom.
- High prevalence of severe functional impairments including walking difficulties (50%), lack of toilet training (56.25%), and universal speech difficulties.
- Significant behavioral problems (43.75%), poor eye contact (37.5%), and socialization difficulties (75%) were noted.
- 87.5% of children attended special schools, and 3 cases revealed genetic causes like mitochondrial deletion, MECP2 duplication, or Lafora disease.
Conclusions:
- Children with intractable epilepsy and diffuse cortical hypometabolism on FDG-PET exhibit a poor long-term prognosis.
- This patient group frequently experiences severe neurodevelopmental deficits and functional impairments.
- Underlying genetic and neurodegenerative disorders are common in this population, highlighting the need for comprehensive etiological investigation.
Abstract:
The objective of this study is to determine the long-term outcome of children with intractable epilepsy who have diffuse cortical hypometabolism on 2-deoxy-2-((18)F)fluoro-D-glucose positron emission tomography (FDG-PET) scans. Seventeen children with intractable epilepsy showing bilateral, diffuse cortical hypometabolism on FDG-PET were followed up through telephone interview from 1 year 4 months to 11 years 4 months (mean: 5 years 7 months ± 2 years 1 month) after their PET scans. One child succumbed to Sanfilippo disease at age 20 years. Only 2 children were seizure free. Fifty percent had walking difficulties, 56.25% were not toilet trained, all had speech difficulties, 43.75% had behavioral problems, 37.5% had poor eye contact, 75% had socialization difficulties, and 87.5% attended special schools. Three children were found to have genetic causes, including a 4-MB deletion of the mitochondrial genome, MECP2 duplication, and Lafora disease. In conclusion, the long-term outcome in this patient population is poor, and they tend to suffer from genetic/neurodegenerative diseases.
