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Benign idiopathic partial epilepsy and brain lesion
1Neuropediatric Department, University of Kiel, Germany.
Insights
A severe head injury in infancy led to epilepsy. Genetic factors for benign epilepsy traits may contribute to symptomatic epilepsy, highlighting the need for sibling EEG studies.
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.
Abstract:
A 14-year-old girl had severe head trauma from a dog bite at the age of 9 days. This resulted in extensive brain damage, tetraplegia, mental retardation, and epilepsy. The seizures were of rolandic type, and the EEG showed multifocal sharp waves. The course was benign. The initial diagnosis of a pure symptomatic epilepsy was revised after demonstrating typical benign focal sharp waves in the EEG of the healthy sister. Thus a phenocopy of a benign partial epilepsy by the brain lesion could be excluded with sufficient certainty. This observation allows the conclusion that the genetic disposition underlying the sharp-wave trait characteristic of benign partial epilepsies can be involved also in the pathogenesis of seemingly pure symptomatic epilepsies. EEG studies on siblings of such patients are needed to exclude possible phenocopies.