Overview
Definition
An X-linked peroxisomal disorder causing demyelination of the central nervous system and adrenal insufficiency due to accumulation of very long-chain fatty acids.
Epidemiology
Prevalence ~1 in 17,000 males.
Etiology & Risk Factors
- ABCD1 gene mutation
- Accumulation of VLCFAs in brain white matter and adrenal cortex
Clinical Symptoms
- Behavioral changes and cognitive decline in boys
- Vision and hearing loss
- Spastic gait
- Hyperpigmentation (signs of Addison's disease)
Clinical Approach
Diagnosis
- Elevated plasma levels of Very Long-Chain Fatty Acids (VLCFAs)
- Genetic testing for ABCD1 mutations
- Brain MRI showing symmetric demyelination
Management
- Corticosteroid replacement for adrenal insufficiency
- Allogeneic stem cell transplant in early-stage cerebral disease
- Lorenzo's oil (dietary therapy, controversial)
Complications
- Vegetative state
- Adrenal crisis
- Severe spastic tetraparesis