Endocrine Abstracts

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 of 25, was admitted due to weakness and hypotension, nausea, abdominal pain, and blurred vision. Fever and severe hyponatremia (Na 108 mmol/lt) were present. Due to the clinical-laboratory picture and reported episodes of hypoglycemia, basal cortisol and ACTH levels were determined, which were indicative of primary adrenal insufficiency [cortisol 2.5 μg/dl, ACTH 360 pg/ml (7–64)]. The diagnosis was confirmed by a short synacthen test (250 μg tetracosactide) with a maximum cortisol response of 1.43 μg/dl. The patient was discharged fever-free and electrolytically stable on hydrocortisone and fluorohydrocortisone replacement therapy. Considering the neurological history and the newly diagnosed Addison’s disease, the possible diagnosis of adrenoleukodystrophy was suspected. The new MRI imaging of the brain showed no typical focal lesions while cervical spinal cord atrophy was reported, a typical finding of adrenomyeloneuropathy, one of the most common forms of the disease in adult patients. He underwent a long-chain fatty acid test that confirmed the diagnosis.

Conclusion: The patient suffered spastic tetraparesis without an identified neurological diagnosis for many years. The diagnosis of coexisting primary adrenal insufficiency led to the diagnosis of adrenoleukodystrophy. Adrenomyeloneuropathy is a less severe form of adrenoleukodystrophy, with the onset of symptoms in adolescence or adulthood. This form of the disease does not involve brain damage and should be included in the differential diagnosis of men with adrenal insufficiency or neurological motility disorders of unknown causes.