case_images: PMC8432289_01
case_images: PMC8432289_02
case_images: Cranial magnetic resonance imaging of the patient. (A) Focal cerebral hemorrhage of the left paraventricular brain. There was no high T1 signal in the posterior limb of bilateral internal capsule. (B) In the diffusion-weighted image, high signals can be seen for the posterior limb of the internal capsule. (C) The thin and short of corpus callosum.
case_images: fped-09-725930-g0001.jpg
case_images: PMC8432289_02_fped-09-725930-g0001.jpg
case_images: F1
case_images: Cranial magnetic resonance imaging (MRI) demonstrated focal cerebral hemorrhage of the right frontal lobe and left paraventricular brain (Figure 1A), focal long T2 signal of the bilateral frontal parietal lobes, and high signals of diffusion-weighted imaging of several brain areas, including the bilateral radial crown, posterior limb of the internal capsule (Figure 1B), and pontine arm, and the thin corpus callosum (Figure 1C).
case_images: PMC8432289_03
case_images: Pedigree and GLDC variations confirmed by Sanger sequencing of the family. The patient (II) had a compound heterozygous variation c.450C>G (p.N150K) and c.1261G>C (p.G421R), which were inherited from her father (I-1) and mother (I-2), respectively.
case_images: fped-09-725930-g0002.jpg
case_images: PMC8432289_03_fped-09-725930-g0002.jpg
case_images: F2
case_images: Sanger sequencing also confirmed that the two mutations were inherited from her mother and father, respectively (Figure 2).
case_images: PMC8432289_04