Benign idiopathic partial seizures in the velocardiofacial syndrome: report of two cases

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a genetic disorder with diverse clinical manifestations.
• Central nervous system involvement in VCFS can include developmental delay and cognitive deficits.
• Epilepsy is a recognized but less commonly emphasized neurological complication of VCFS.

Observation:

• This report details two pediatric cases diagnosed with velocardiofacial syndrome.
• Both children exhibited characteristic dysmorphic features, intellectual disability, and high-arched palates.
• Seizures, specifically benign partial-onset epilepsy (rolandic or occipital), emerged in both patients around ages 3 and 5.

Findings:

• The observed seizures in these patients presented with clinical and electroencephalographic patterns consistent with benign idiopathic childhood epilepsy.
• One patient received treatment, achieving complete seizure control, suggesting responsiveness to antiepileptic medication.
• These cases demonstrate a potential link between VCFS and benign partial epilepsy.

Implications:

• Benign partial epilepsy should be considered in the spectrum of neurological symptoms associated with velocardiofacial syndrome.
• Early recognition and management of epilepsy in VCFS patients may improve neurological outcomes.
• Further research is warranted to elucidate the underlying mechanisms connecting VCFS and epilepsy.