case_images: PMC10611516_01
case_images: Brain magnetic resonance image (MRI) at 3 months (A) and 25 months (B) of age. (A) Axial T2-fluid attenuated inversion recovery (FLAIR) image of the brain demonstrates periventricular leukomalacia (arrow) with mild ventriculomegaly of the lateral ventricle. (B) Axial T2-FLAIR image of the brain shows abnormal high-signal intensity in the white matter, especially in the post-periventricular region and around the frontal horn (arrowhead). There is no interval change in ventriculomegaly of the lateral ventricle.
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case_images: PMC10611516_01_fped-11-1204360-g001.jpg
case_images: F1
case_images: For diagnostic workup, a brain MRI was performed at the age of 3 months, which suggested periventricular leukomalacia with mild ventriculomegaly (Figure 1A). At the age of 25 months, a follow-up brain MRI showed an apparent abnormal T2-fluid attenuated inversion recovery (FLAIR) high-signal intensity in the white matter, particularly in the post-periventricular region and around the frontal horn, along with cortical atrophy in the frontoparietal lobe (Figure 1B).
case_images: Whole genome sequencing (A) and sanger sequencing (B) validation of the target mutation [NM_002074.5(GNB1):c.239T > C]. (A) A de novo variant is detected in the GNB1 gene of the proband. (B) Sanger sequencing shows a heterozygous missense variant of GNB1. P, proband; F, father; M, mother; For, Forward; Rev, Reverse.
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case_images: PMC10611516_01_fped-11-1204360-g002.jpg
case_images: F2
case_images: A single variant of GNB1, NM_002074.5(GNB1):c.239T>C (p.Ile80Thr), was identified through whole-genome sequencing and subsequently confirmed by Sanger sequencing (Figures 2A,B).
case_images: Changes in the gross motor function measure (GMFM-66). The graph shows the total score of the GMFM-66 evaluated at 6-12 months intervals from 11 to 43 months of age. Despite early intensive rehabilitation, she showed poor improvement on the GMFM-66, reaching a plateau at approximately 24 months.
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case_images: PMC10611516_01_fped-11-1204360-g003.jpg
case_images: F3
case_images: Classification System (GMFCS) V and Mini-Manual Ability Classification System (Mini-MACS) IV. Changes in GMFM-66 and GMFM-88 scores during this period are shown in Figures 3 and 4, respectively.
case_images: Change in dimension % score of gross motor function measure (GMFM-88). The graph examines the trend of change by subdividing GMFM-88 from dimension A to D. Dimension A stands for lying and rolling, dimension B stands for sitting, dimension C stands for crowing and kneeling, and dimension D stands for standing. She showed poor improvement in dimensions C and D.
case_images: fped-11-1204360-g004.jpg
case_images: PMC10611516_01_fped-11-1204360-g004.jpg
case_images: F4
case_images: Classification System (GMFCS) V and Mini-Manual Ability Classification System (Mini-MACS) IV. Changes in GMFM-66 and GMFM-88 scores during this period are shown in Figures 3 and 4, respectively.