Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep114 | Adrenal and Cardiovascular Endocrinology | ECE2022

Late diagnosis of adrenoleukodystrophy in an adult patient with tetraparesis and addisonian crisis.

Gogakos Apostolos , Aggelaki Aliki , Dougalis Apostolos , Kourkouta Georgia , Kita Marina , Efstathiadou Zoi

Introduction: Adrenoleukodystrophy (ALD) is a rare, X-linked inherited, genetic disease, characterized by a disorder of peroxisome metabolism, leading to the accumulation of very long-chain fatty acids (VLCFAs) mainly at the central nervous system and the adrenal glands. It usually occurs in childhood, but there are types of the disease that manifest later in life.Case: A 57-year-old man with a history of progressive spastic paresis, starting at the age ...