Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042571 (vertigo)
 7,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female patient started to develop deafness and vertigo at the age of 29. In the following years she became atactic and retinitis pigmentosa was discovered. The diagnosis of Refsum's disease was reached on the grounds of the high concentration of phytanic acid in plasma. The patient died 23 years after onset of the first symptoms. Liver, spleen and kidney showed lipofuscinosis and pigment-laden macrophages. The retina was atrophic and its pigment discontinuous. The meninges contained lipid-laden macrophages. The nerve cells in brain and spinal cord as well as the astrocytes and perivascular macrophages stored substances weakly PAS-positive and sudanophilic. The nerve cells accumulated lysosomes and residual bodies. In the astrocytes, the residual bodies were extremely polymorphous and contained inclusions with bilamellar ribbon-like structures. In the oligodendroglia the residual bodies displayed high electron density and finger print-like pattern. Peroxisomes were found in glial cells and microperoximes in neurons. The ultrastructural findings in the present case demonstrate that in terminal stages phytanic acid can reach the brain parenchyma passing through the BBB. Further autopsy studies will be necessary to determine whether these changes are consistent findings in Refsum's disease.
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PMID:Heredopathia atactica polyneuritiformis (Refsum's disease). 172 32