Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• 18q-syndrome is a chromosomal disorder associated with various health issues.
• Epilepsy is a known, though infrequent, complication of 18q-syndrome.
• Benign focal epilepsy with onset in infancy is a rare epilepsy syndrome.

Observation:

• A child with 18q-syndrome presented with typical syndrome manifestations.
• The child experienced frequent complex partial seizures (1-20 daily).
• Electroencephalograms (EEGs) showed left fronto-central low-voltage spikes during sleep.

Findings:

• This is the first reported case of benign focal epilepsy with onset in infancy in a child with 18q-syndrome.
• Brain magnetic resonance imaging (MRI) results were normal.
• The epilepsy presented as frequent complex partial seizures.

Implications:

• Benign focal epilepsy with onset in infancy may be an associated condition of 18q-syndrome.
• This finding expands the understanding of neurological manifestations in 18q-syndrome.
• Highlights the importance of considering specific epilepsy syndromes in children with 18q-syndrome.