*Correspondence: anapaula.deluca17@gmail.com.
Abstract
Case Presentation: ASP, male, epilepsy onset at 2 years, waking and sleeping, focal seizure semiology,
with ocular supraversion or lateralization, limb hypertonia, and cephalic deviation.
He evolved with language and cognitive delay, with no family history of neurological
diseases. At 8 years of age, he came to the service reporting generalized seizures
1 month ago, with maintenance of focal seizures, aura with right eye pain, using low
dose of sodium valproate and clobazam. Gradual dose adjustment with no response, change
to Carbamazepine and discontinuation of use due to drowsiness. Changes in neurological
examination: difficulty in gaze fixation, divergent strabismus mainly in the right
eye. EEG: temporo-occipital paroxysms on the right. CBT: cortico-subcortical hypodensity,
in occipital and posterior parietal region to the right. By genetics: intellectual
deficit due to epileptic cause. Recent EEG: asymmetrical posterior dominant rhythm
and slowed D, slowing and abundant epileptiform activity in right temporo-parieto-occipital
region, confirming structural hypothesis. Skull MRI revealed prominent right occipital
lobe with gyral simplification (pachygyria). Oxcarbamazepine started at last visit
for better tolerability.
Discussion: Facing a picture of early refractory epilepsy and global developmental delay (epileptic
encephalopathy), with focal seizures, we should question the hypothesis of cortical
developmental malformation. The patient had a right posterior dysplasia (pachygyria),
a cortical malformation in which neuronal migration is abnormal. The aura and seizure
semiology indicated the location of the lesion, as the most common non-visual symptom
in occipital epilepsies is the ocular version. Orbital pain is characteristic of parietal
spreading. EEG with sustained slowing in the posterior region ratified the hypothesis,
confirmed with imaging. It is important to identify the ictal onset and classify the
crisis for best therapy. Anticrisis drugs (ACF) should be chosen according to the
semiology and if there is refractoriness, surgical evaluation is required.
Final Comments: It is important that neuropediatricians are able to evaluate the possibility of a
cortical developmental malformation in cases of refractory epilepsies where treatment
with CAF has already been directed to the seizure semiology. Focal seizure semiology
and EEG with synchronous focal change suggest investigation of structural epilepsy.
Thus, imaging should be requested directing to the hypothesis and localization.
