X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism which is characterized by an accumulation of saturated very long chain fatty acids. Fatty acid accumulation is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. At least six phenotypes have been distinguished, of which the two most frequent are childhood-cerebral ALD and adrenomyeloneuropathy (AMN). The X-ALD gene was identified and mapped to Xq28. Initially, only men were thought to be affected by the disease, but it is now recognized that female carriers are also at risk for X-ALD.
KeywordsChain Fatty Acid Female Carrier Periventricular White Matter Spastic Paraparesis Poor School Performance
Adrenoleukodystrophy.mp4 (MP4 11,090KB)
This is not an example of dystonia. The examination actually shows spastic tetraplegia which is more extensive in the upper than lower limbs. There are spastic contractures in the upper limbs at the elbow and finger flexors. There is marked facial masking and absence of spontaneous movements. Vision was impaired and he was unable to cooperate for eye movement examination.