case_images: PMC11253423_01
case_images: (A) An axial T2-weighted image shows hyperintensity in posterior fossa and no cerebellar tissue (black star). Axial 3D-T1-weighted image (B) and axial T1-enhanced image (C) reveal that there is no recognizable cerebellar structure, the left posterior fossa is filled by CSF and a cerebrovascular in the left cerebellar hemisphere (blue arrow). (D) A sagittal 3D-T1-weighted image shows the absence of the inferior cerebellar vermis (white triangle). Axial 3D-T1-weighted images (E, F) show ipsilateral enlargement of the pons and cerebral peduncle (thick, white arrow). (G) DTI shows complete lack of the efferent and afferent limbs of the left cerebellum.
case_images: kkae012fig1.jpg
case_images: PMC11253423_03_kkae012fig1.jpg
case_images: fig1
case_images: As illustrated in Fig. 3 (Case 1), Fig. 4 (Case 2), as well as summarized in Table 1, both patients exhibited increased GMV in multiple brain regions, with significant alterations observed in the frontal and temporal lobes, as well as the cingulate gyrus.
case_images: PMC11253423_02
case_images: (A) An axial T2-weighted image shows the absence of the left cerebellum with CSF filled the posterior fossa (black star). (B) An axial 3D-T1-weighted image shows the remaining cerebrovascular in the left cerebellar hemisphere (thin white arrow), similar to Fig. 1(B, C) and shows the remaining cerebellar remnant (red arrow). (C) A sagittal 3D-T1-weighted image shows the hypoplasia of the inferior cerebellar vermis (white triangle). Axial 3D-T1-weighted images (B, D) show ipsilateral enlargement of the pons and cerebral peduncle (thick, white arrow). (E, F) DTI shows fibrous connections between the pons and cerebellar remnants (white arrow).
case_images: kkae012fig2.jpg
case_images: PMC11253423_02_kkae012fig2.jpg
case_images: fig2
case_images: An MRI scan (GE 1.5 T Signa HDe) showed a near-total absence of the left cerebellum, with remnants representing the anterior quadrangular lobule (Fig. 2). Additionally, there was isolated normal inferior vermis lobulation with small volume, contralateral enlargement of the cerebellar hemisphere, and ipsilateral enlargement of the pons and cerebral peduncle (Fig. 2). DTI demonstrated afferent and efferent fibers connecting the pons and remnants of the cerebellum (Fig. 2E, F).
case_images: PMC11253423_03
case_images: (A) An axial T2-weighted image shows hyperintensity in posterior fossa and no cerebellar tissue (black star). Axial 3D-T1-weighted image (B) and axial T1-enhanced image (C) reveal that there is no recognizable cerebellar structure, the left posterior fossa is filled by CSF and a cerebrovascular in the left cerebellar hemisphere (blue arrow). (D) A sagittal 3D-T1-weighted image shows the absence of the inferior cerebellar vermis (white triangle). Axial 3D-T1-weighted images (E, F) show ipsilateral enlargement of the pons and cerebral peduncle (thick, white arrow). (G) DTI shows complete lack of the efferent and afferent limbs of the left cerebellum.
case_images: kkae012fig1.jpg
case_images: PMC11253423_03_kkae012fig1.jpg
case_images: fig1
case_images: As illustrated in Fig. 3 (Case 1), Fig. 4 (Case 2), as well as summarized in Table 1, both patients exhibited increased GMV in multiple brain regions, with significant alterations observed in the frontal and temporal lobes, as well as the cingulate gyrus.
case_images: Brain regions showing significantly altered GMV in the patient in Case 1. Warm colours indicate increased GMV, and cool colours represent decreased GMV when compared with an age-matched normal brain model.
case_images: kkae012fig3.jpg
case_images: PMC11253423_03_kkae012fig3.jpg
case_images: fig3
case_images: As illustrated in Fig. 3 (Case 1), Fig. 4 (Case 2), as well as summarized in Table 1, both patients exhibited increased GMV in multiple brain regions, with significant alterations observed in the frontal and temporal lobes, as well as the cingulate gyrus.