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ALL / Neurology

Adrenoleukodystrophy

Adrenoleukodystrophy

Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder caused by mutations in the ABCD1 gene.

Pathophysiology
  • impaired peroxisomal transport and breakdown of very long-chain fatty acids (VLCFAs)
  • VLCFAs accumulate in the adrenal cortex, CNS white matter and testes
  • this causes adrenal insufficiency and progressive demyelination

Features
  • usually affects boys
  • behavioural change and cognitive decline
  • visual and hearing impairment
  • seizures
  • spasticity and ataxia
  • primary adrenal insufficiency:
    • fatigue
    • weight loss
    • hyperpigmentation
    • postural hypotension

Adult form
  • adrenomyeloneuropathy
  • progressive spastic paraparesis
  • peripheral neuropathy
  • bladder and sexual dysfunction

Investigations
  • raised plasma very long-chain fatty acids
  • ABCD1 genetic testing
  • MRI brain: white matter demyelination
  • adrenal function tests: low cortisol, raised ACTH

Management
  • steroid replacement for adrenal insufficiency
  • haematopoietic stem cell transplant may be considered in early cerebral disease
  • supportive management for established neurological disease
+PassMedicine Notes

Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder caused by mutations in the ABCD1 gene.

Pathophysiology
  • impaired peroxisomal transport and breakdown of very long-chain fatty acids (VLCFAs)
  • VLCFAs accumulate in the adrenal cortex, CNS white matter and testes
  • this causes adrenal insufficiency and progressive demyelination
Features
  • usually affects boys
  • behavioural change and cognitive decline
  • visual and hearing impairment
  • seizures
  • spasticity and ataxia
  • primary adrenal insufficiency:
    • fatigue
    • weight loss
    • hyperpigmentation
    • postural hypotension
Adult form
  • adrenomyeloneuropathy
  • progressive spastic paraparesis
  • peripheral neuropathy
  • bladder and sexual dysfunction
Investigations
  • raised plasma very long-chain fatty acids
  • ABCD1 genetic testing
  • MRI brain: white matter demyelination
  • adrenal function tests: low cortisol, raised ACTH
Management
  • steroid replacement for adrenal insufficiency
  • haematopoietic stem cell transplant may be considered in early cerebral disease
  • supportive management for established neurological disease


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