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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Figure 1

Chronic and acute brain MRI findings in α-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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