Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ophthalmological changes in two patients with Erdheim-Chester disease are described. These consist of exophthalmos, ophthalmoplegia, xanthelasma, optic disc swelling, blindness due to optic atrophy, retinal striae, and bilateral enhancing orbital masses on CT scan. The clinical and histopathologic findings of Erdheim-Chester disease are reviewed and the manifestations in two patients with orbital change are presented. This is believed to be the first report describing the ophthalmological manifestations of Erdheim-Chester disease. Our observations support the view that Erdheim-Chester disease is unrelated to the histiocytosis X group.
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PMID:Orbital manifestations of Erdheim-Chester disease. 667 81

We present the case of a man who died 11 years after the onset of xanthoma disseminatum. His course was marked by numerous, large recurrent intracranial dural-based xanthomatous tumors requiring repeated neurosurgical intervention. Late in his course there was progressive quadriparesis, ataxia, ophthalmoplegia and bulbar palsy as a result of intraparenchymal brainstem involvement. At autopsy, there was extensive meningeal and intraparenchymal CNS disease and widespread systemic infiltrates. The gross and microscopic pathology are presented with immunohistochemical, ultrastructural and biochemical details. The present case is discussed in the context of the current classification scheme and the recent literature, where it is exceptional for the extent of CNS disease. Xanthoma disseminatum is currently classified as a non-X histiocytopathy, the pathogenesis of which remains uncertain. CNS involvement carries a poor prognosis in this otherwise benign condition.
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PMID:Xanthoma disseminatum with massive intracranial involvement. 860 36