PMC10079982_01
Brain MRI images in the proband. (A) Sagittal T2-weighted image displayed thinning of the corpus callosum, as indicated by the red arrow. (B) Axial T1-weighted image showed symmetrical periventricular white matter lesions, as indicated by the red arrow.
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F1
Magnetic resonance imaging (MRI) of the brain showed an extremely thin corpus callosum on sagittal views and symmetrical periventricular white matter lesions (Figures 1A, B).
Thoracic spinal MRI image in the proband. Thoracic spinal MRI revealed thinning of the thoracic spinal cord with volume loss but no abnormal signal in the cord on sagittal T1-weighted imaging, as indicated by the red arrow.
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F2
Thoracic MRI showed that the thoracic spinal cord was significantly thinner and reduced in volume (Figure 2).
Whole-genome sequencing identified compound heterozygous mutations in the SPG11 gene. (A) Mutation of c.5687-5691del, as indicated by the red arrow. (B) Mutation of c.751C>T, as indicated by the red arrow.
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F3
A frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T) were identified in the SPG11 gene of the patient (Figure 3).