A 5-year-old girl was prenatally diagnosed with cardiac rhabdomyomas on fetal ultrasound. After birth, brain MRI showed multiple cortical/subcortical tubers and subependymal nodules. Genetic testing revealed a de novo TSC2 gene mutation. On physical exam, she had several hypomelanotic spots and angiofibromas. Seizures began at one month of age with focal motor symptoms characterized by grimaces; asymmetric blinking (right>left) with oral automatisms; clonic jerks of the right eye, mouth, and occasionally arm; and epileptic spasms (ES). Psychomotor development was delayed with significant language impairment. Multiple antiseizure medications were trialed (valproic acid, levetiracetam vigabatrine, oxcarbazepine, carbamazepine, clonazepan, topiramate), without success.

Brain MRI demonstrated multiple bilateral cerebral cortical/subcortical tubers, radial migrational lines, and subependymal nodules ( Fig. 56.1A and B ). A dominant tuber in the left supramarginal gyrus ( Fig. 56.1C and D ) correlated with the patient’s seizure semiology.

Tuberous sclerosis complex. Brain MRI, (A and B) axial T2 shows multiple bilateral hyperintense cortical/subcortical tubers. (C) Sagittal FLAIR and (D) sagittal T1 show dominant tuber in the left supramarginal gyrus ( circles ). FLAIR , Fluid-attenuated inversion recovery.

Interictal electroencephalogram (EEG) showed repetitive epileptiform abnormalities over the left frontotemporal region ( Fig. 56.2A ), as well as subclinical discharges with rhythmic slow waves over the left central region ( Fig. 56.2B ).

Tuberous sclerosis complex. (A) Interictal awake EEG shows left frontotemporal repetitive epileptiform abnormalities with frequent contralateral spread. (B) Left central rhythmic interictal discharges. EEG , Electroencephalogram.

Intracranial stereo EEG lead placement was performed ( Fig. 56.3A ), confirming an ictal focus over the left posterior perisylvian region on a background of independent multifocal abnormalities ( Fig. 56.3B ).

Tuberous sclerosis complex. (A) Stereo-EEG exploration with left frontoparietal electrodes and one temporal control. (B ) Focal clonic seizure with rhythmic spike-and-wave complexes over L, M and P electrodes (oval) corresponding to right eye clonic jerks. EEG , Electroencephalogram.

Focal cortical resection was performed. Two years later, the patient was seizure free and her medication regimen was simplified (Carbamazepine withdrawn, Vigabatrin ongoing). Fig. 56.4 shows the intraoperative MRI and SEEG implantation.

Tuberous sclerosis complex. Intraoperative brain MRI, (A) axial FLAIR, (B–C), sagittal T1 showing resection of left posterior perisylvian tuber. (D) Intraoperative photos before and (E) after surgical resection of epileptogenic L, M, and P electrodes. FLAIR , Fluid-attenuated inversion recovery.

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