PMC9633861_01
An interictal electroencephalogram (EEG). The EEG showed generalized slowing waves (20-40 muV) and theta waves (6-7 Hz).
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F1
The interictal electroencephalogram (EEG) showed severe generalized slowing waves (Figure 1).
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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F2
Diffusion-weighted imaging (DWI) and susceptibility-weighted imaging (SWI) sequences revealed no other abnormalities (Figure 2).
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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The Sanger sequencing confirmed that these mutations were inherited from her parents (Figure 3).
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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The EEG findings showed numerous irregular left-sided delta waves mixed with a large number of sharp waves, spikes, and wave discharges (Figure 4).
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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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).
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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F6
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).