Table 5.
Patient A | Patient B | Patient C | Patient D | Patient E | ||
---|---|---|---|---|---|---|
EEG | at 44 years | at 25 years | at 19 years | at 34 years | at 27 years | |
Background activity |
6–7/s |
6/s |
5–6/s |
irregular, α-β-τ |
irregular, α-β-τ |
|
Focal slowing |
no |
no |
bifrontal τ and δ |
no |
right frontal τ |
|
Focal epileptiform activity |
no |
bifrontal sharp waves |
bifrontal sharp waves |
no |
no |
|
Generalised/bisynchronous epileptiform activity | no | no | no | no | no | |
MRI | at 37 years | at 25 years | at 16 years | not done | not done | |
Supratentorial atrophy |
bifrontal atrophy (hypoplasia) |
bifrontal atrophy |
bifrontal atrophy |
− |
− |
|
Infratentorial atrophy |
mild cerebellar atrophy |
no |
mild cerebellar atrophy |
− |
− |
|
White matter lesions |
periventricular white matter slightly reduced and hyperintense (T2) reaching to the left inferior frontal gyrus |
no |
no |
|||
Cortical lesions |
no |
no |
no |
− |
− |
|
Lesions of the basal ganglia |
no |
no |
no |
− |
− |
|
Other lesions | no | no | no | − | − |