Malignant migrating partial seizures in Aicardi syndrome

Area of Science:

• Pediatric Neurology
• Epileptology
• Clinical Neuroscience

Background:

• Aicardi syndrome is a rare genetic disorder characterized by severe epilepsy, developmental delay, and a specific brain malformation (agenesis of the corpus callosum).
• Epileptic encephalopathies represent a group of severe epilepsy disorders where continuous seizure activity is thought to contribute to progressive neurological deterioration.

Observation:

• A female infant with Aicardi syndrome presented with malignant migrating partial seizures from the first day of life.
• Seizures evolved from unilateral tonic seizures with contralateral EEG findings to epileptic spasms by 6 months.
• The infant exhibited global developmental delay, lack of response to stimuli, and required nasogastric tube feeding.

Findings:

• The patient's epilepsy was refractory to all antiepileptic treatments, with no observable psychomotor development.
• This case demonstrates a unique seizure pattern, expanding the known clinical spectrum of Aicardi syndrome.
• The 'migration' of partial seizures occurred despite the absence of a fully formed corpus callosum, challenging established theories.

Implications:

• This case expands the phenotypic presentation of Aicardi syndrome, a severe epileptic encephalopathy.
• Findings suggest that the corpus callosum may not be essential for the migratory phenomenon observed in some partial seizures within this syndrome.
• Further research is needed to understand the mechanisms underlying seizure propagation in Aicardi syndrome, particularly in the absence of the corpus callosum.