Benign idiopathic partial epilepsy and brain lesion.

Area of Science:

• Neurology
• Clinical Neurophysiology
• Medical Genetics

Background:

• A 14-year-old girl presented with severe head trauma sustained at 9 days old, resulting in extensive brain damage, tetraplegia, mental retardation, and epilepsy.
• Her seizures were characterized as rolandic type, with electroencephalogram (EEG) findings of multifocal sharp waves.

Observation:

• The patient's epilepsy, initially diagnosed as purely symptomatic, was re-evaluated after her healthy sister exhibited typical benign focal sharp waves on EEG.
• This finding suggested the possibility of a phenocopy, where the brain lesion mimicked a genetic epilepsy trait.

Findings:

• The presence of similar EEG sharp-wave patterns in the sibling allowed for the exclusion of a pure phenocopy in the patient.
• This indicated that the underlying genetic predisposition for the sharp-wave trait, characteristic of benign partial epilepsies, could also play a role in the pathogenesis of seemingly symptomatic epilepsies.

Implications:

• The study suggests that genetic factors associated with benign partial epilepsy traits may contribute to the development of epilepsy even in cases with clear brain lesions.
• It underscores the importance of EEG investigations in siblings of patients with epilepsy, particularly those with apparent symptomatic causes, to rule out phenocopies and identify potential genetic contributions.