PMC3567975_01
Chronic and acute brain MRI findings in alpha-methylacyl-coA racemace deficiency. A) Representative axial T2-images showing different brainstem levels and the thalami in a caudocranial direction. There is evidence of chronic degeneration of both cerebellar efferent and afferent pathways. A1) No evidence of inferior olivary lesion in the medulla oblongata. A2) High signal of the dentate nucleus (arrow). This finding was preceded by loss of T2 hypointensity. High signal and atrophy of the pons is also apparent at this level. A3) High signal in the superior cerebellar peduncle (SCP; arrow). In addition, there is degeneration of the cerebellar afferents with pontine atrophy and hyperintensity corresponding to the transverse pontine fibers. A4) High signal corresponding to the decussation of SCP. A5) High signal corresponding to the dentatothalamic tract (arrow) at the level of the inferior colliculus in the midbrain. A6) Probable loss of T2 hypointensity in the red nucleus (arrow) on 3 Tesla MRI and high signal in the superior colliculus. A7) High signal in the posterior commissure (arrow). A8) High signal in the thalami. B) Acute lesion two weeks into an encephalopatic episode with aphasia, right upper limb paresis, central facial palsy and reduced consciousness in patient B. Left frontal high T2-signal cortical lesion (B1), showing a mixed diffusion pattern with areas of both high and low apparent diffusion coefficient (ADC) (B2-B3).
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F1
MRI showed left sided frontotemporal cortical edema (Figure 1). These showed a specific, degeneration of cerebellar afferents and efferents (Figure 1).
Ophthalmic features in patient B. A - C) Fundus images of the right eye showing pronounced asteroid hyalosis (A). Pigment epithelial atrophy and moderate pigmentary retinopathy are present in the mid-periphery. The macula, optic disc and retinal vessles are normal (B). Areas resembling pigmented and nonpigmentet small congenital hypertrophy of the retinal pigment epithelium were present (C). D) Optical coherence tomography showing a normal macula (top) but peripheral retinal pigment layer degeneration and disturbances in the photoreceptor layer (bottom).
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F2
She had pronounced bilateral asteroid hyalosis (Figure 2A). On ophthalmoscopy pigment epithelial atrophy and moderate pigmentary retinopathy was seen in the mid-periphery (Figure 2B-C).  On optical coherence tomography peripheral retinal pigment layer degeneration and slightly disturbed photoreceptors were noted (Figure 2D).
Goldmann perimetry in patient B. Constricted visual fields were found. In the right eye a conserved central horizontal field of 30 degrees nasally and 40 degrees temporally are seen. In the left eye the conserved visual field is 10 degrees nasally and 40 degrees temporally.
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F3
Constricted visual fields were found on Goldmann perimetry (Figure 3).