Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67-year-old man with a four-year history of horizontal and vertical nystagmus and progressive cerebellar dysfunction later developed profound dementia and died of bronchopneumonia. Neuropathological examination revealed numerous active and inactive progressive multifocal leukoencephalopathy (PML) lesions in the cerebrum and cerebellum. Active lesions showed marked perivascular lymphocytic cuffing. Papovaviruses were identified ultrastructurally in both oligodendrocytes and astrocytes. Multiple malignant astrocytomas were documented, originating from PML lesions. No viruses could be demonstrated in neoplastic astrocytes. An immune-deficient state was not revealed clinically or at postmortem examination.
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PMID:Multiple malignant astrocytomas in a patient with spontaneous progressive multifocal leukoencephalopathy. 662 35

Progressive multifocal leukoencephalopathy is a rare, demyelinating disease of the central nervous system caused by JC virus. Fewer than 30 cases have been reported in HIV- and non-infected children. We report the case of a 15-year-old girl with progressive multifocal leukoencephalopathy and AIDS who presented with nystagmus, dysarthria and ataxia. Following combined antiretroviral therapy, she developed immune reconstitution inflammatory syndrome, which proved fatal.
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PMID:Progressive multifocal leukoencephalopathy in pediatric patients: case report and literature review. 2463 69

Progressive multifocal leukoencephalopathy (PML) is a rare fatal central nervous system disorder characterized by infection-induced demyelination of white matter due to the opportunistic reactivation of John Cunningham virus in an immunocompromised patient. PML is associated with many immune-mediated diseases, lymphoproliferative conditions, and immunosuppressive agents. In this case report, we present a 79-year-old female patient diagnosed with rheumatoid arthritis who developed posterior fossa PML while on rituximab. She presented with subacute cerebellar ataxia, dysarthria, and nystagmus, and her brain MRI showed right pontine and pontocerebellar lesion with diffusion restriction and heterogenous enhancement highly characteristic of PML. Though many cases of PML with rituximab were reported in the literature, our case describes a rare type of PML affecting the posterior fossa in an HIV-negative patient on rituximab.
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PMID:Posterior Fossa Progressive Multifocal Leukoencephalopathy Secondary to Rituximab. 3317 40