Fig. 2

Brain and cervical MRI images of proband V8. (a, b, e) Brain MRI image showing patchy, hyperintense T1 and T2 signals within the cerebral hemisphere and basal ganglia. T2-FLAIR images revealed mildly elevated signals in certain lesions, notably within the central left hemisphere and left frontal lobe. The bilateral globus pallidus presented with scattered, slightly hypointense T1 signals. Mild widening of the sulci and cisterns was observed, with atrophy noted in the bilateral cerebellar hemispheres. The midline structures are symmetrical. The red arrow points to the characteristic “lynx ears” sign. (c, f) Cervical spine imaging revealed marginal hyperosteophytes at the edges of the vertebral bodies, with slight flattening observed at C6, and no significant signal abnormalities were detected. Reduced T2 signal intensity is noted in certain cervical intervertebral discs, with mild posterior protrusions at C3–4, C5–6, and C6–7, causing minimal compression of the local dural sac. The cervical spinal cord morphology and signal remained normal, with no evidence of lesions within the spinal canal. (d) CT image showing bilateral basal ganglia calcification