Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy

Thursday 3 July 2003

Clinical synopsis

- hyperpigmentation
- blindness
- cognitive hearing loss
- degenerative neurologic disorder
- spastic paraplegia
- peripheral neuropathy
- impotence
- sphincter disturbances
- limb and truncal ataxia
- slurred speech
- primary adrenal insufficiency
- hypogonadism
- onset usually in late childhood
- atrophy of pons and cerebellum on CT scan

Pathological synopsis

- nervous system lesions
- adrenal lesions
- testicular lesions

Laobratory

- elevated long chain fatty acids in plasma, fibroblasts, amniocytes and chorionic villi
- peroxisomal lignoceroyl-CoA ligase deficiency

See also

- adrenoleukodystrophies