case_images: PMC11199768_01
case_images: (A) Swollen left hippocampus and parahippocampal gyrus on axial T1, T2, and T2 FLAIR sequences and hyperintensity on T2 FLAIR sequences. (B) Atrophy of the head of the caudate nucleus and resulting enlarged anterior horn of the lateral ventricle on axial T1, T2Flair, and sagittal T1 sequences. (C) Decreased volume of the bilateral hippocampus and enlarged bilateral temporal horn of the lateral ventricles. (D) Almost the same degree of atrophy of the head of the caudate nucleus compared with last year. [(A,B) First structural brain MRI. (C,D) Reexamined structural brain MRI 1 year later. All images are marked by red arrows].
case_images: fneur-15-1352467-g001.jpg
case_images: PMC11199768_01_fneur-15-1352467-g001.jpg
case_images: fig1
case_images: Brain MRI indicated a mildly swollen left hippocampus and parahippocampal gyrus, appearing as slight hyperintensity on the T2 fluid-attenuated inversion recovery (FLAIR) sequence (Figure 1A), along with the atrophy of the head of the caudate nucleus resulting in an enlarged anterior horn of the lateral ventricle (Figure 1B). Repeated MRI indicated a high possibility of hippocampal sclerosis based on decreased volume and increased signal on the T2 FLAIR sequence (Figure 1C). Nevertheless, no visual progression of atrophy of the head of the caudate nucleus was observed compared with the last year (Figure 1D).
case_images: Acanthocytes on the second peripheral blood smear [(A), red arrows] and the third peripheral blood smear [(B), red arrows].
case_images: fneur-15-1352467-g002.jpg
case_images: PMC11199768_01_fneur-15-1352467-g002.jpg
case_images: fig2
case_images: Surprisingly but as expected, we discovered representative acanthocytes, and the proportion was over 15% (Figure 2A). When he was readmitted for aggravated dyskinesia and tongue biting after catching two colds 1 year later, a repeated peripheral blood smear suggested an elevated proportion of acanthocytes (>20%) (Figure 2B).
case_images: WES followed by confirmation by family verification, revealed the homozygous genotype of the patient and his brother and the heterozygous genotype of his parents and sister in the c.2061dup mutation of VPS13A.
case_images: fneur-15-1352467-g003.jpg
case_images: PMC11199768_01_fneur-15-1352467-g003.jpg
case_images: fig3
case_images: Further family verification revealed a homozygous genotype of his brother (with a PMH of epilepsy) and a heterozygous genotype of his parents and sister (who were all asymptomatic) in the c.2061dup mutation of VPS13A (Figures 3, 4).
case_images: Pedigree chart of the affected family. Double lines indicate consanguineous unions. Square denotes a male family member, the circle represents a female family member, the slashed symbol indicates a deceased family member, the fully shaded symbol shows the patient with epilepsy, and the open symbol presents no symptoms. Arrow: index patient. Asterisk: genetic testing performed. Aa, heterozygous; aa, homozygous for c.2061dup (p. Leu688fs) in VPS13A.
case_images: fneur-15-1352467-g004.jpg
case_images: PMC11199768_01_fneur-15-1352467-g004.jpg
case_images: fig4
case_images: Further family verification revealed a homozygous genotype of his brother (with a PMH of epilepsy) and a heterozygous genotype of his parents and sister (who were all asymptomatic) in the c.2061dup mutation of VPS13A (Figures 3, 4).