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)