Endocrine Abstracts

Background: X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder of beta-oxidation that results in accumulation of very long chain fatty acids (VLCFAs) in various tissues. The clinical phenotype of X-ALD in adults is variable and involves adrenal, gonadal and nervous system dysfunction (adrenomyeloneuropathy, AMN). Patients with AMN typically develop spastic paraparesis due to progressive degeneration of the cerebral white matter.

Objective: To report a case of a rare adult-onset cerebello-brainstem presentation of a sporadic ALD with sparing of the occipito-parietal lobes and autonomic dysfunction which resembles multi-system atrophy.

Case report: We report the case of a 33 year old man with Addison’s disease since his early twenties and a 2-year history of progressive neurological deterioration preceded by a psychiatric bout with mania and psychosis. The neurological presentation started as a slowly progressive gait ataxia, unsteadiness and the need for walking support. Speech was poor and dysarthric and uninhibited behaviour was occasionally present. After 2 years of follow-up, generalized ataxia was accompanied by atypical parkinsonism, urinary disturbances and spastic paraparesis with inability to walk. The brain MRI showed a marked cerebellar and midbrain atrophy with bilateral demyelination of the long tracts and hypotrophy of dorsal columns of the spinal cord, the latter being highly suggestive for AMN. Of note, the occipito-parietal parenchyma was spared. A differential diagnosis of this nervous system involvement in the context of Addison’s disease is discussed.

Conclusion: Up to 60% of adolescent and young adult men with ADL/AMN have no or few neurologic abnormalities at the time of diagnosis of adrenal insufficiency. The cerebello-brainstem form of AMN can be a rare presentation of ALD. ADL/AMN should be considered in any boy or young man with adrenal insufficiency and neurological signs, albeit atypical.