PMC9807021_01
Brain magnetic resonance imaging (MRI): (A) Bilateral subfrontal cortex and (B) bilateral paraventricular abnormal signals, as displayed by the arrow.
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F1
The biochemical examination showed no significant abnormality, and the brain MRI+DWI (diffusion-weighted imaging) showed bilateral paraventricular-bilateral subfrontal cortex abnormal signals (Figure 1).
Seven-hour (7-h) video-encephalography (VEEG) on admission. (A) Background activity slowed down, mainly with theta (theta) wave. (B) The left frontal pole, frontal, central, midfrontal line, and central region of the spike-slow wave discharged. (C) Multiply spike-slow wave; multispike-slow wave; the slow wave is covered with spine and spikes, cluster or rhythmic discharge in both hemispheres. (D) Atonic seizures. The transient electrical rest appeared 20-40 ms in electromyography (EMG) after electroencephalogram (EEG) synchronous spike-slow wave burst. The clinical manifestations are head droop. X5: left upper limb; X6: left upper limb; X7: ECG; SEN: 20 uV; HF: 70; TC: 0.3; the red arrow is the electric rest.
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F2
A seven-hour video-encephalography (VEEG) after admission (Figure 2) showed a slow background, numerous abnormal epileptiform discharges during the awake and sleep stages, slow waves that increased, and atonic seizures that were monitored twice.
Gene testing results. Location of the chromosome: Chr17:42992593. Gene mutation in c.262 (exon1) C>T was observed, due to the 88th amino acid change from arginine to cysteine. RS: 61622935. No variant was found in the parent.
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F3
Genetic testing was performed during the hospital stay (at the age of 4), and 20 days later, the genetic testing results showed that GFAP gene exon 1 c.262 C>T, and that the pathogenic mutations could lead to the 88th amino acid change from arginine to cysteine (Figure 3).
Results of two video-encephalographies (VEEGs) performed 35 days after discharge (A-C) and 7 months after discharge (D,E). (A) The 8-9 Hz medium amplitude alpha wave rhythm in the bilateral occipital area. (B) The 3-4 Hz slow waves in the bilateral anterior head are asynchronous or rhythmic discharge. (C) Slow wave or sharp slow wave discharged in the bilateral frontal, central, parietal, and midline areas asynchronously. (D) The 6-7 Hz medium amplitude theta wave rhythm in the bilateral occipital area. (E) The 3-4 Hz slow waves discharge in sleep, and the bilateral anterior head is predominant. X5, Left upper limb; X6, left upper limb; X7, ECG; SEN,10 uV in A, D, E and 15 uV in B, C; HF, 70; TC, 0.3.
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F4
The second VEEG was performed seven months after discharge (at the age of 5)and only showed a few 3 Hz slow waves during sleep, yet the background was a bit slow (Figure 4).