Figure 3
Case 2ii. Post mortem neuropathology.
(a) Coronal section of cerebrum showing granular degeneration of deep white matter (arrow). (b) Low power histology of frontal lobe showing extensive degeneration of deep cerebral white matter (arrow) and corpus callosum with relative sparing of subcortical white matter (LFB/Nissl). Similar degenerative changes affected the corticospinal tracts in the brainstem (c. midbrain, arrows) and corticospinal tracts and dorsal columns in the spinal cord (d. arrows) (LFB/Nissl). Affected cerebral white matter showed severe depletion of myelinated fibres (e. LFB/Nissl) with pigmented macrophages (e, arrow and f. CD68 immunohistochemistry) and scattered axonal swellings (g. arrow, neurofilament immunohistochemistry). Apparently normal subcortical white matter had preserved myelinated fibres (h. LFB/Nissl) but still had an abnormal population of macrophages (i. CD68 immunohistochemistry). Despite the CSF1R mutation, microglia and perivascular macrophages in the grey matter appeared morphologically normal (j. CD68 immunohistochemistry). The deep layers of the cerebral cortex contained morphologically abnormal, swollen neurons (k. neurofilament immunohistochemistry). Case 1i. Similar histological features, including a similar distribution of macrophages, were present in affected cerebral white matter in the biopsy sample (l. CD68 immunohistochemistry). Figures e-f all taken with x20 objective, scale bar shown in fig e = 100 μm.
