case_images: PMC9633861_01
case_images: An interictal electroencephalogram (EEG). The EEG showed generalized slowing waves (20-40 muV) and theta waves (6-7 Hz).
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case_images: F1
case_images: The interictal electroencephalogram (EEG) showed severe generalized slowing waves (Figure 1).
case_images: Brain magnetic resonance imaging (MRI). Axial diffusion-weighted imaging (DWI), T1-weighted, and susceptibility-weighted imaging (SWI) sequences (1, 2, and 6) revealed no other abnormalities. Axial T2-weighted and fluid attenuated inversion recovery (FLAIR) sequences (3 and 5) showed a right occipital cortical hyperintense signal. Sagittal T2-weighted scan (4) showed global brain atrophy and ventricular enlargement with occipital cortical hyperintense signal.
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case_images: F2
case_images: Diffusion-weighted imaging (DWI) and susceptibility-weighted imaging (SWI) sequences revealed no other abnormalities (Figure 2).
case_images: Pedigree of the family with Krabbe disease (A) and genetic evaluation of GALC
  (B). The pedigree chart shows that the patient's father (I-1) and mother (I-2) were cousins. The proband (II-1) is indicated by a black arrow. The genetic evaluation showed that the c.1901T>C (p.Leu634Ser) mutation of the proband was inherited from her parents.
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case_images: F3
case_images: The Sanger sequencing confirmed that these mutations were inherited from her parents (Figure 3).
case_images: An ictal EEG. The EEG showed left-sided abnormalities with numerous delta waves, including slow waves mixed with sharp waves, spikes, and wave discharges.
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case_images: F4
case_images: The EEG findings showed numerous irregular left-sided delta waves mixed with a large number of sharp waves, spikes, and wave discharges (Figure 4).
case_images: Brain magnetic resonance imaging. Axial DWI, T2-weighted and FLAIR sequences (1, 3, 5, and 6) showed damage in the left cerebral hemisphere covering the frontal, temporal, and occipital lobes. Axial T1-weighted sequences (2) revealed hypointense signal in corresponding areas. Coronal FLAIR MRI (4) revealed high signal changes in the hippocampal area and the left temporal cortex.
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case_images: F5
case_images: MRI showed a damage to the left cerebral hemisphere (Figure 5). Magnetic resonance spectroscopy (MRS) found an increased peak of choline, a decreased peak of N-acetylaspartate and an inverted peak of lipid-lactate in bilateral basal ganglia (Figure 6).
case_images: Brain magnetic resonance spectroscopy (MRS) showed an increased peak of choline, a decreased peak of N-acetylaspartate, and an inverted peak of lipid-lactate around bilateral basal ganglia.
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case_images: PMC9633861_01_fneur-13-1010150-g0006.jpg
case_images: F6
case_images: MRI showed a damage to the left cerebral hemisphere (Figure 5). Magnetic resonance spectroscopy (MRS) found an increased peak of choline, a decreased peak of N-acetylaspartate and an inverted peak of lipid-lactate in bilateral basal ganglia (Figure 6).