Wednesday, September 4, 2019

X-linked adrenoleukodystrophy: Spinocerebellar variant

Au LWC, Chan AYY, Mok VCT. Teaching NeuroImages: X-linked adrenoleukodystrophy: Spinocerebellar variant. Neurology. 2019 Aug 13;93(7):e731-e732.

A 29-year-old previously healthy man presented with 2 months' history of progressive dysarthria and unsteady gait. Examination revealed dysmetria, lower limbs hyperreflexia, and ankle clonus. MRI showed symmetrical T2/fluid-attenuated inversion recovery hyperintensity over bilateral middle cerebellar peduncles and cerebellar white matter but sparing the cerebral cortex (figure). Very long-chain fatty acids were detected in blood. Genetic testing showed hemizygous p.Arg554His mutation in the ABCD1 gene, confirming the diagnosis of adrenoleukodystrophy (ALD). ALD is an X-linked peroxisomal disorder. Lesions are typically found in the cerebral white matter. The spinocerebellar variant is a rare phenotype and has been estimated to account for 1%-2% of ALD.


Axial fluid-attenuated inversion recovery images show hyperintensity over bilateral middle cerebellar penducles (A) and cerebellar white matter (B). The cerebral cortex is spared, as shown on axial T2 images (C, D)

No comments:

Post a Comment