X-linked adrenoleukodystrophy
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