Adult adrenoleucodystrophy with hypercortisolemia.

Area of Science:

• Neuroscience
• Endocrinology
• Genetics

Background:

• Adrenomyeloneuropathy (AMN) is an X-linked disorder characterized by progressive demyelination.
• Cerebral white matter involvement can occur in AMN, leading to neurological decline.

Observation:

• A 39-year-old male presented with rapid cerebral white matter progression after 8 years of AMN.
• Blood sphingomyelin showed an increased C:26 to C:22 fatty acid ratio.
• Peripheral nerve biopsy revealed needle-like cytoplasmic inclusions.

Findings:

• These findings are indicative of adrenoleukodystrophy (ALD) or adrenoleucomyeloneuropathy.
• Plasma adrenocorticotropic hormone (ACTH) levels were extremely elevated, with most immunoactivity at 55000 molecular weight.
• Plasma cortisol levels were initially normal but elevated in the final stage.

Implications:

• This case highlights diagnostic markers for cerebral ALD in AMN patients.
• Understanding ACTH regulation in ALD is crucial for potential therapeutic targets.
• Early identification of cerebral involvement is key for managing neurological progression.