PMC7385448_01
Axial T2W (A), axial FLAIR (B) and sagittal (C) MRI shows right frontal dysplasia with multi-layered appearance (arrow) comprising slightly hyperintense cortex, relatively hypointense blurred grey-white matter junction and gyriform hyperintensity in the subcortical white matter. Axial (D), coronal (E) and sagittal (F) MRI PET fusion image showing right frontal hypometabolism.
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Right frontal hypometabolism was noted on Positron emission tomography (PET) (Fig. 1).
NeuN showing dyslamination and loss of neuronal orientation (A). H & E stain with markedly distended neurons showing intracytoplasmic granular material (B), which is positive for PAS (C), LFB (D) and shows autofluorescence (E). There is extension of this material into the axon hillock (arrow C,D,E). Ring-like staining of intermediate filaments enclosing the lipofuscin on non-phosphorylated (F) and phosphorylated neurofilaments (G). Granular ubiquitin positivity within the neurons (H). GFAP showing reactive gliosis with stellate astrocyte (I). Transmission electron microscopy showing an enlarged neuron with intracytoplasmic, non-membrane bound, electron dense material with characteristics of lipofuscin (arrow J, higher magnification K). Magnification as shown in scale bar.
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Transmission electron microscopy of the dysmorphic neurons revealed intracytoplasmic, non-membrane bound, electron dense material with characteristics of lipofuscin (Fig. 2).