PMC6816284_01
T2W (T2-weighted) changes in the proband. Diffuse hyperintensity of T2W in the white matter of frontals, parietal lobes, basal ganglia, corpus callosum, occipital lobe (A,B), mesencephalon (C, arrow), pons, and pons- and cerebellopontine-binding arms (D, arrow). The medial lemniscuses, the degustation of the superior cerebellar peduncles (C, solid arrow), pyramidal tracts, corticonuclear tracts (D, solid arrow), med peduncles, and cerebellar peduncles (E, arrow) were also affected.
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F1
The brain MRI scan showed diffuse and symmetrical T2-hyperintense lesions in WM with less affected periventricular rims (Figures 1, 2).
Comparison of a T2W (A) and fluid-attenuated inversion-recovery (FLAIR) (B), and apparent diffusion coefficient (ADC) (C) in transverse (axial) cross section through hemispheres at lateral ventricles. There are relative preservation of the periventricular region (A, arrows) and sparing of the subcortical U fibers on T2W. Compared to T2W, intensity of periventricular rims is suppressed in the most severely affected areas (B, arrows). The hyperintense lesion areas in ADC were smaller on T2W (C).
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F2
The brain MRI scan showed diffuse and symmetrical T2-hyperintense lesions in WM with less affected periventricular rims (Figures 1, 2).
Comparison of a T2W (A), fluid-attenuated inversion-recovery (FLAIR) (B), and apparent diffusion coefficient (ADC) (C) in transverse section of the pituitary gland. Signal alterations were extended to pyramidal tracts, corticonuclear tracts, medial lemniscuses, and the degustation of the superior cerebellar peduncles (A). These signals above lesion areas were suppressed on FLAIR and not affected on the ADC map (C).
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F3
Similarly, the cortical spinal tract, cortical nuclear tract, medial thalamus system, and cerebellar foot presented pathological signals on T2-weighted fluid-attenuated inversion-recovery (FLAIR) images (Figure 3).
T1-weighted spin-echo image (T1W) (A), T2W (B), and cross-sectional (C) MR image of the spinal cord of the proband. T1W on sagittal surface and cross-sectional MRI showed diffuse withering, with accompanying abnormal signal in white matter of thoracic one to four level spinal cord on T2WI.
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F4
On cross-sectional MRI, the result revealed mild withering of the cerebellum, brain stem, and cerebrum, and diffuse spinal cord atrophy (Figures 4, 5). On the other hand, the genetic tests were in accordance with a diagnosis of ADLD, showing a duplication spanning the entire LMNB1 gene on chromosome 5q in the proband and her younger brother (Figure 6, II-4, II-5).
Multiplex ligand-dependent probe amplification (MLPA) experiment. MLPA of II-4 (A) and II-5 (B) showed genomic duplications of LMNB1, extending between nucleotide positions 126.140.739 and 126.200.380, with an estimated size of 59,651 bp (A,B), III-9 (C), and III-11 (D) were normal.
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F5
On cross-sectional MRI, the result revealed mild withering of the cerebellum, brain stem, and cerebrum, and diffuse spinal cord atrophy (Figures 4, 5). On the other hand, the genetic tests were in accordance with a diagnosis of ADLD, showing a duplication spanning the entire LMNB1 gene on chromosome 5q in the proband and her younger brother (Figure 6, II-4, II-5).