A 18-month-old girl was brought to our clinic with the complaint of convulsion. Her family stated that she had started to have short-lasting jerky movements localized to the left arm since 2 months previously and they had recently spread over the whole body. She was not taking any medicine for seizures. Her parents were second-degree relatives. Her birth was uncomplicated but her psychmotor milestones were significantly delayed.
On physical examination, the pupils were equal and reactive and there was no evidence of glaucoma or buphthalmus. In the neurological examination, she was conscious but mentally retarded. She had no motor deficits. The rest of the examination was unremarkable.
Interictal EEG revealed moderate-to-severe irregularities in background activities, especially in the anterior right hemisphere. A CT of the brain is shown in Figure 3.
Figure 3.
Cerebral CT showing abnormalities.
What abnormalities are seen in Figure 1?
What abnormalities are seen in Figure 2?
What abnormalities are seen in Figure 3?
What is the diagnosis?
Figure 1.
Facial nevus.
Figure 2.
Megalocornea in the left eye.
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