PMC6372518_01
BRAIN MRI (CASE 1): (A) Sagittal 3D Magnetization Prepared Rapid Acquisition Gradient Echo (MPRAGE) T1-w with axial (B), and coronal (C) reconstructions showing partial corpus callosum agenesis, right fornix, and mammillary body hypoplasia, hypogenesis of bilateral lateral ventricles (colpocephaly). (D) Turbo Spin Echo Fluid-Attenuated Inversion Recovery (TSE FLAIR) T2-w axial and coronal (FLAIR T2-w & T1-w) scans showing nodular heterotopic foci. (E) TSE FLAIR T2-w & T1-w coronal scan showing right frontal parasagittal cortical thickening. (F) Susceptibility Weighted Imaging (SWI) axial scan with Maximum Intensity Projection (MIP) reconstruction showing right frontal parasagittal venous drainage abnormality with telangiectasia.
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F1
A brain magnetic resonance imaging (MRI) scan showed multiple congenital brain development defects (Figure 1): posterior commissure agenesis, right fornix, and ipsilateral mammillary body hypoplasia, colpocephaly, right frontal parasagittal cortical thickening, two periventricular nodular heterotopic foci in the right parietal areas, and two venous drainage abnormalities in the left cerebellar hemisphere and right frontal lobe, respectively. A neuropsychological evaluation revealed no abnormalities.
PMC6372518_02
Skin Biopsy Immunoflorescence (Case 2) showing prevalently somatic small fiber neuropathy (SFN). A confocal study of epidermal innervation in the patient and a control subject: leg epidermal innervation disclosed by confocal microscope (x40) in an age-matched control subject (left panel), and the x-ALD patient case 2 (right panel). Nerve fibers are marked in red by a pan-neuronal marker PGP 9.5 whereas, the collagen staining is shown in green. The basement membrane separating epidermis from dermis is marked by collagen staining. Free-ending PGP immunoreactive fibers are evident in the epidermis of the control (arrows) whereas, the patient showed a marked decrease of such fibers, often fragmented (arrows). PGP, protein gene product; COLL, collagen.
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F2
The immunofluorescence (IF) analysis revealed a prevalently somatic SFN (Figure 2).