PMC4353120_01
Pedigree chart of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family from three generations with eight affected members.
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F1
Seven members in his family experienced similar syndromes (Table 1, Figure 1).
Brain magnetic resonance images from the 41-year-old proband. On T2-weighted images, there are symmetric hyperintense signals in white matter from both temporal lobes (C), as well as an abnormal high signal in the brain stem and genu of callosum (A, B, D). Diffuse hyperintense signal is seen in the subcortical and deep white matter on fluid-attenuated inversion recovery sequence. The red arrows point to multiple brain lesions. R: Right.
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F2
Brown hemochromatosis and hypesthesia were noted on calf areas of both legs (supplementary Figure 2 online). Hyperintense signals were noted in the corpus pons, genu of the callosum, left basal ganglia, corona radiate, and semiovale centrum on T2-weighted images, as well as symmetrical high signals in the bilateral temporal lobes (Figures 2A, B, D). A fluid-attenuated inversion recovery sequence revealed diffuse hyperintense signals in the subcortical and deep white matter (Figure 2C).
Sural nerve biopsy findings of the proband at 41 years of age.. Granular osmophilic material deposits are visible in the extracellular matrix adjacent to smooth muscle cells of dermal arterioles (A, x 25 000) and within smooth muscle cells of dermal arterioles (B, x 30 000). Black deposits are marked by arrows.
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F3
The deposits were variable in size; the largest measured approximately 0.4-0.6 mm (Figure 3).