Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of primary diffuse leptomeningeal melanoblastosis in a 46-year-old male is reported. His symptoms included headaches, transient hemiparesis, epileptic seizures and a progressive psychosyndrome. CT brain scans showed a slight enhancement of density in the subarachnoidal space. The disease was diagnosed by CSF cytology, using light microscopy, electron microscopy, autoradiography and cell culture. Systemic combined chemotherapy using Cisplatinum, DTIC, and Vindesine was without any significant response and he died 18 weeks after onset of the first complaints. Autopsy showed a diffuse infiltration of the entire leptomeninges by melanotic melanoblastoma cells invading the sagittal superior sinus. A thorough dissection including the orbital contents and skin nevi failed to reveal a primary tumor outside the CNS.
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PMID:Review and case report: primary melanoblastosis of the leptomeninges. 399 6