Two siblings with cortical dysplasia: Clinico-electroencephalographic features

Area of Science:

• Neurology
• Genetics
• Pediatric Epilepsy

Background:

• Epilepsy in siblings can indicate underlying genetic factors.
• Early-onset spasms and seizures require prompt diagnosis and management.
• Brain malformations are a common cause of refractory epilepsy in children.

Observation:

• Two siblings presented with early-onset spasms and partial seizures.
• Both siblings exhibited a suppression-burst pattern on interictal electroencephalogram (EEG).
• The older sibling had focal cortical dysplasia type IIa; the younger had hemi-megalencephaly.

Findings:

• The older sibling's seizures resolved after focal cortical resection.
• The younger sibling's seizures resolved after hemispherotomy.
• Pharmacological treatments were largely ineffective for both siblings.

Implications:

• Surgical treatment can be highly effective for epilepsy associated with specific brain malformations.
• The similar clinical and EEG presentations suggest a shared genetic etiology.
• Further research into the genetic basis of these conditions is warranted.