Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD ) shows a wide range of phenotypic expression , but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported . We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei . The proband , a 37 -year -old man presented with bladder incontinence , slurred speech , dysmetria in all limbs , difficulties in balancing , and gait ataxia . Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum . With high level of very long chain fatty acid , gene study showed a de novo mutation in exon 1 at nucleotide position c .277 _296 dup 20 (p .Ala 100 Cysfs *10 ) of the adenosine triphosphate-binding cassette D 1 gene . It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms .