Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep256 | Clinical case reports - Pituitary/Adrenal | ECE2016

Atypical X-linked adult adrenoleukodystrophy with cerebellar and brainstem involvement – a case report

Lazar Elena , Ilie Mirela , Tanasescu Radu , Popescu Bogdan , Badiu Corin

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 r...