Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Neurol Res and Elmer Press Inc
Journal website https://jnr.elmerpub.com

Case Report

Volume 15, Number 3, August 2025, pages 117-122

PIK3CA-Related Overgrowth Spectrum With Progressive Neurological Manifestations: A Rare Case Report

Figures

Figure 1.
Figure 1. Top row: brain MRI T2, 2010 (age 3 months). Bottom row: brain MRI T2, 2024 (age 13 years). Note the persistent hemihypertrophy of the right cerebral cortex. MRI: magnetic resonance imaging.
Figure 2.
Figure 2. Timeline.
Figure 3.
Figure 3. Top left: MRI cervical spine T1 sagittal view showing Chiari I malformation (red arrow indicating tonsillar herniation shown). Center: MRI T2 thoracic spine sagittal view showing extensive syrinx (red arrows showing fluid appearing hyperintense). Right: MRI T2 lumbar spine sagittal view showing continuation of syrinx. Bottom left: MRI T2 axial view showing scattered cauda equina (red arrows shown). MRI: magnetic resonance imaging.
Figure 4.
Figure 4. Representative samples of EEGs. Left: at 3 years old while on levetiracetam, prior to surgery sensitivity 7 µV/mm excessive background slowing with spikes at right temporal area (arrows) and intermittent 20 - 22 Hz bilateral multifocal fast activity (boxes). Right: EEG at age 12, sensitivity 15 µV/mm with persistent fast activity (boxes) and T5, O1, P3 spikes (arrowheads) while on levetiracetam. EEG: electroencephalogram.