Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The neurological features of 13 patients with primary hypogammaglobulinaemia are described. Seven patients had X-linked agammaglobulinaemia (XLA) and six had common variable immunodeficiency (CVID). Three clinical pictures emerged: (i) a progressive myelopathy (one case); (ii) a myelopathy progressing to an encephalopathy (four cases); (iii) a pure encephalopathy (eight cases). In four patients the encephalopathy was temporarily reversible; the relationship of this to immunoglobulin therapy is unclear. Additional features occurred in some patients. Three had retinopathy interpreted as retinitis pigmentosa, in one of whom the retinopathy resolved. Two patients had a sensori-neural hearing loss and three had features of dermatomyositis; a variable pleocytosis was found in the CSF of nine patients. Imaging revealed atrophic changes in the cerebral hemispheres in eight cases. Ten patients have died, 1-11 years after the onset of the CNS manifestations, and in four autopsies were obtained. Two patients had encephalopathy, one with XLA had evidence of end-stage encephalitis and the other with CVID had a multi-focal leucoencephalopathy. The other two with XLA had leptomeningitis without evidence of encephalitis. Enteroviral infection is probably an important cause of neurological disease in these patients as CSF from seven patients was either positive by polymerase chain reaction (PCR) or by culture for enteroviruses. Other possible mechanisms are discussed.
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PMID:Encephalomyelitis in primary hypogammaglobulinaemia. 862 73

Good's syndrome (GS) is an immunodeficiency characterized by thymoma, hypogammaglobulinemia, and impaired T-cell function. The clinical manifestations of GS include recurrent or chronic infections from common or opportunistic pathogens. Encephalitis is a rare event, with only anecdotal reports of cytomegalovirus infection. Herein we report the case of a 79-year-old woman with GS who developed subacute motor deficits and cognitive changes. Magnetic resonance imaging (MRI) of the brain disclosed white- and gray-matter lesions, mostly in the right frontal and parietal areas. Polyoma virus JC, the agent of progressive multifocal encephalopathy (PML), was identified in cerebrospinal fluid samples and brain biopsy specimens. After diagnosis, the disease had a rapid fatal course. The present case represents the first reported association between GS and PML.
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PMID:Progressive multifocal leukoencephalopathy in a patient with Good's syndrome. 2056 7

Good's syndrome (GS) is an immunodeficiency characterised by thymoma, hypogammaglobulinemia and impaired T-cell function. The clinical symptoms are recurrent or chronic infections from common or opportunistic pathogens and diarrhoea. Encephalitis is rare, mostly associated to cytomegalovirus. We present a 65-year-old woman who developed blindness, motor deficits and cognitive changes over a 4-month period. MRI of the brain showed symmetric subcortical white matter changes in the occipital lobes, first thought to correspond to posterior reversible encephalopathy syndrome. A thymoma was found and operated. The patient had no B cells, low immunoglobulins and an inverted CD4/CD8 ratio. GS was diagnosed. In the cerbrospinal fluid >1 million JC virus copies/mL were found and a repeat MRI now showed a picture compatible with progressive multifocal leucoencephalopathy (PML). Her disease had a fatal outcome. The present case is the second reported association between GS and PML.
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PMID:Progressive multifocal leukoencephalopathy in a patient with Good's syndrome. 2389 78

Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype. Both siblings shared bilateral progressive hearing loss, encephalopathy, global developmental delay, generalized myopathy, and dystonia with choreoathetosis. Prior to diagnosis and because of lactic acidosis and low activity of muscle pyruvate dehydrogenase complex (PDC), sibling 1 (S1) was placed on dichloroacetate, while sibling 2 (S2) was on a ketogenic diet. S1 developed severe cyclic vomiting refractory to therapy, while S2 developed Leigh syndrome, severe GI dysmotility, intermittent anemia, hypogammaglobulinemia and eventually succumbed to his disorder. The mitochondrial DNA contents in skeletal muscle (SM) were normal in both siblings. Pyruvate dehydrogenase complex, ketoglutarate dehydrogenase complex, and several mitochondrial electron transport chain (ETC) activities were low or at the low end of the reference range in frozen SM from S1 and/or S2. In contrast, activities of PDC, other mitochondrial enzymes of pyruvate metabolism, ETC and, integrated oxidative phosphorylation, in skin fibroblasts were not significantly impaired. Although we show that propionyl-CoA inhibits PDC, it does not appear to account for decreased PDC activity in SM. A better understanding of the mechanisms of phenotypic variability and the etiology for tissue-specific secondary deficiencies of mitochondrial enzymes of oxidative metabolism, and independently mitochondrial DNA depletion (common in other cases of A-SCS deficiency), is needed given the implications for control of lactic acidosis and possible clinical management.
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PMID:Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 2791 98

Enteroviruses are RNA viruses within the Picornaviridae family. Enteroviruses derive their name from the way they are typically transmitted via the intestinal tract. They commonly infect millions of people every year and often do not cause severe disease in immunocompetent patients with few exceptions. Aseptic meningitis is a classic manifestation and is usually self-limited, however, can lead to severe neurological complications in an immunocompromised individual. It has been well-described that patients with hypogammaglobulinemia are predisposed to developing chronic enteroviral meningoencephalitis [1]. This is the first reported case of enteroviral meningoencephalitis in a patient being treated for psoriatic arthritis with rituximab. Here we describe a 46-year-old female who presented with altered mental status, fever, and myalgia. Polymerase chain reaction (PCR) of her cerebrospinal fluid (CSF) confirmed the presence of enterovirus. In the immunocompromised patient with encephalopathy, it is important to consider an enteroviral infection. This case adds to the present body of knowledge about enteroviral infections in immunocompromised hosts.
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PMID:Chronic enteroviral meningoencephalitis in a patient on rituximab for the treatment of psoriatic arthritis: A case report and brief literature review. 3119 53