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Tangier disease is a rare autosomal recessive disorder marked by very low plasma levels of apolipoprotein A-I(apoA-I)and high-density lipoprotein (HDL)cholesterol and by an accumulation of cholesteryl esters in a variety of cells and tissues.Peripheral neuropathy,a common feature of this disease,is present in about half of the patients.The abnormality usually presents in one of three forms:a relapsing and asymmetric process;a progressive symmetric polyneuropathy;or an asymmetric syringomyelic syndrome.In no reported case has the disorder presented as a plexopathy.We report a case of Tangier disease in a 14-year-old black boy,who presented with the symptoms of a progressive lumbosacral plexopathy and a corneal interstitial keratitis.The patient had markedly depressed levels of apoA- I,a finding consistent with the diagnosis of Tangier disease;the apoA-I, however,was structurally normal as judged by two-dimensional electrophoresis.The disorder has been reported in a worldwide distribution of whites,but involvement of other races has not been previously reported. |
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blacks
cholesterol
cholesterol,HDL
cornea,abnormal
dissociated sensory loss
genetic neurologic disorders
keratitis
lumbosacral plexopathy
lumbosacral plexus
neuropathy
neuropathy,hereditary peripheral
neuropathy,peripheral
Tangier's disease
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