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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rasmussen syndrome (RS) is a severe and progressive focal epilepsy of unknown etiology that leads to deterioration of motor and cognitive function. We report a 14-year-old girl who developed epilepsia partialis continua involving the left hand, mild hemiparesis, and secondarily generalized seizures. RS was confirmed by brain biopsy. The patient has been treated with intravenous gamma globulin every 4 months for 46 months. The clinical course throughout this time has been distinctly atypical for RS, with no progression in motor or cognitive deficits and rare secondarily generalized seizures. Although the mechanism for action for gamma globulin in RS is not known, an immunomodulatory role has been postulated. Evidence of an immunologically mediated process in RS and clinical experience with a growing number of patients who benefit from immunomodulatory therapy suggest that a systematic study of the efficacy of gamma globulin in comparison with other forms of medical therapy is warranted.
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PMID:Rasmussen syndrome and long-term response to gamma globulin. 870 28

Theodore Brown Rasmussen succeeded Wilder Penfield as director of the Montreal Neurological Institute (MNI) and held this post from 1960 to 1972. During his career, Rasmussen probably performed more operations for epilepsy than any other surgeon of his time; he became the foremost authority in this field. His meticulous follow-up analyses of the MNI seizure series provided substantial evidence for the success of surgery in the treatment of focal epilepsy. In addition, he made significant contributions to surgery of the pituitary gland for control of cancer, treatment of cerebral and spinal tumors, application of the intracarotid Amytal test for lateralization of speech and memory function, and characterization and treatment of epilepsy accompanied by chronic encephalitis, now referred to as Rasmussen syndrome. His painstaking attention to surgical details as well as his insistence on close monitoring of patient care and critical scrutiny of clinical results marked him as an outstanding teacher and role model for young neurosurgeons and neuroscientists.
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PMID:Theodore Brown Rasmussen (1910-2002): epilepsy surgeon, scientist, and teacher. 1265 Apr 40

Severe focal epilepsy is regarded as a clinical hallmark of Rasmussen encephalitis (RE). The authors report two children with progressive hemiparesis, contralateral hemispheric atrophy, and pathologic features characteristic for RE. At histologic diagnosis and over several months, neither patient experienced seizures. The report enlarges the clinical spectrum of RE and suggests that seizures are not an obligatory presenting symptom of the disorder.
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PMID:Rasmussen encephalitis with active inflammation and delayed seizures onset. 1503 7

Rasmussen encephalitis (RE) is a severe and progressive focal epilepsy of unknown origin that leads to deterioration of motor and cognitive function. In a previous study, we described positive effect of high doses of steroids during the first year after the onset of RE. The objective of this study was to evaluate this therapy at long term. We reviewed 11 patients (7 girls and 4 boys) with RE of the right hemisphere (7) and the left (4) at a follow-up of 9+/-2 years. Age at onset of RE ranged from 2 to 14 years. Six patients had no benefit from steroid therapy and underwent hemispherotomy. Five had significant reduction of seizure frequency with disappearance of epilepsia partialis continua, and improved motor function. Of these, two died of unexpected sudden death 5 and 7 years after seizure control. Two others with initial response experienced progressive recurrence of seizures 1 to 4 years after the end of steroid therapy and required hemispherotomy. Finally, only one patient exhibited total cessation of seizures with steroids for 3 years, but seizures progressively recurred although the frequency was moderate. Our data confirm that although steroid treatment can be useful when given early in the course of RE, long term relapse can occur among the good responders requiring delayed hemispheric disconnection.
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PMID:Long term response to steroid therapy in Rasmussen encephalitis. 1740 81

Rasmussen encephalitis (RE) is a rare neurological disorder of childhood characterized by uni-hemispheric inflammation, progressive neurological deficits and intractable focal epilepsy. Destruction of neurons and astrocytes by cytotoxic CD8 T cells has been proposed as a pathogenic mechanism underlying this enigmatic disorder. We tested this hypothesis by analysing the clonal composition and T-cell receptor (TCR) repertoire of CD4+ and CD8+ T cells using complementarity determining region 3 (CDR3) spectratyping from peripheral blood and corresponding CNS specimens. Severe perturbations of the TCR repertoire were found in brain infiltrates from all specimens (n = 5). Clonal expansions, as evidenced by peripheral blood analysis (n = 14), belonged to the CD8+ T-cell subset, while CD4+ cells showed normal distributions. Some of those expansions were analysed in the respective CNS specimens by histochemistry. The stainings showed Vbeta specific T cells containing the cytotoxic molecule granzyme B and lying in close appositions to NeuN+ neurons and GFAP+ astrocytes. Analysis of corresponding CNS/blood specimens revealed overlapping but also CNS-restricted expansions of certain TCR clonotypes suggesting expansions of T cells within the target organ itself. Longitudinal analysis of peripheral blood samples (n = 5) demonstrated dominance but also longitudinal persistence of specific CD8 T-cell clones over time. The Vbeta/Jbeta usage, length of the CDR3, and biochemical characteristics of the CDR3 amino acids suggested high similarities putatively related to common driving antigen(s) without shared clones. Taken together, our data strongly support the hypothesis of an antigen-driven MHC class-I restricted, CD8+ T cell-mediated attack against neurons and astrocytes in the CNS dominating the pathogenesis in RE.
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PMID:CD8+ T-cell clones dominate brain infiltrates in Rasmussen encephalitis and persist in the periphery. 1917 79

Parry-Romberg syndrome (PRS) is a sporadic disease of unknown etiology with typical onset in childhood or in young adults. It is characterized by a slow and progressive atrophy affecting one side of the face, the skin, the subcutaneous tissue, the muscles, the cartilages, and the underlying bony structures. The neurological symptoms usually include focal epilepsy, migraine, and unilateral brain lesions on the same side as the atrophy. A common neuroimaging finding of the syndrome is white matter high signal intensity on brain magnetic resonance (MR) imaging. Rasmussen encephalitis (RE) is a rare and chronic inflammatory disease of the brain that begins in the first decade of life and more rarely in adolescents and adults. It usually involves one hemisphere with focal cortical inflammation. Neurologic symptoms are intractable seizures and progressive hemiplegia. Both PRS and RE are often associated with other inflammatory or autoimmune disorders and only 1 case of both syndromes has been reported in literature. We report the clinical and neuroradiological findings in a 6-year-old boy, presenting with focal hemifacial and arm motor seizures and progressive facial hemiatrophy. Serial MR imaging studies revealed progressive brain hemispheric signal alterations and atrophy. This would thus suggest acoexistence of PRS and RE.
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PMID:Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features. 1955 4

Eponyms continue to have their place in medicine but there are pitfalls associated with their use. "Priorities" may be debatable, misattributions are not uncommon, and knowledge of the original papers is often insufficient. A. Ya. Kozhevnikov (1836-1902) is considered to be the founder of the Russian neurology, best known in the West for his work on epilepsia partialis continua (EPC), published in 1894. Kozhevnikov considered various natures for this disorder but thought chronic infectious etiology to be the most probable. Shortly the eponym Kozhevnikov epilepsy was coined and used in clinical practice and writing. Thirty-five years after Kozhevnikov's death, in 1937, a new form of viral encephalitis, Russian spring-summer tick-borne encephalitis (RTBE), was discovered, which was strongly associated with EPC and at times incorrectly attributed to Kozhevnikov by Russian (Soviet) and West-European scientists, although he never specifically identified or even could have recognized this disease entity. When, in 1958, Canadian scientists published about persisting focal epilepsy due to chronic focal encephalitis in children, a new disease was proclaimed: Rasmussen syndrome or Rasmussen chronic encephalitis. The only reference to Kozhevnikov in the Canadian papers was the incorrect suggestion that Kozhevnikov himself described EPC in RTBE. This historical error resulted in continuing misquotations of Kozhevnikov in the current literature and controversies concerning the place of Kozhevnikov epilepsy in the Classification Scheme of the International League Against Epilepsy (ILAE). The history of Kozhevnikov epilepsy thereby offers an illustrative example of the successive misunderstandings, errors, and controversies that arise due to insufficient knowledge or understanding of the original publications, questionable post hoc interpretations of earlier findings, misquoting of secondary papers, or a combination of all these.
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PMID:Kozhevnikov epilepsy: the disease and its eponym. 2120 24

Rasmussen encephalitis (RE) is a rare neurologic disorder of childhood characterized by unihemispheric inflammation, progressive neurologic deficits, and intractable focal epilepsy. The pathogenesis of RE is still enigmatic. Adenosine is a key endogenous signaling molecule with anticonvulsive and anti-inflammatory effects, and our previous work demonstrated that dysfunction of the adenosine kinase (ADK)-adenosine system and astrogliosis are the hallmarks of epilepsy. We hypothesized that the epileptogenic mechanisms underlying RE are related to changes in ADK expression and that those changes might be associated with the development of epilepsy in RE patients. Immunohistochemistry was used to examine the expression of ADK and glial fibrillary acidic protein in surgically resected human epileptic cortical specimens from RE patients (n = 12) and compared with control cortical tissues (n = 6). Adenosine kinase expression using Western blot and enzymatic activity for ADK were assessed in RE versus control samples. Focal astrogliosis and marked expression of ADK were observed in the lesions of RE. Significantly greater ADK expression in RE versus controls was demonstrated by Western blot, and greater enzymatic activity for ADK was demonstrated using an enzyme-coupled bioluminescent assay. These results suggest that upregulation of ADK is a common pathologic hallmark of RE and that ADK might be a target in the treatment of epilepsy associated with RE.
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PMID:Upregulation of adenosine kinase in Rasmussen encephalitis. 2412 82

Rasmussen encephalitis (RE) is a progressive inflammatory disorder characterized by brain hemiatrophy, unilateral focal deficits, and drug-refractory focal epilepsy. Epilepsia partialis continua (EPC) is a hallmark of the disease. Several immunomodulatory treatments may slow but not halt the disease progression. The treatment of choice still relies on surgical hemispheric disconnection, which is burdened by heavy neurologic morbidity. More limited cortical resections, although more tolerable, are usually considered to be, at best, only transiently effective in RE. Hemispheric disconnections may be not feasible when neurologic functions are preserved and the dominant hemisphere is affected. Adult patients with a milder RE course that preserves neurologic function for a long period are particularly at risk of developing severe deficits after surgery. In this study we present the histories of two patients with adult-onset RE who have undergone selective cortical resections to control EPC, avoiding, at the same time, the severe postsurgical deficits that may be induced by hemispheric disconnective surgery. The good result obtained on EPC has been stable over a prolonged period; however, this result was not paralleled by the stop of neurologic progression in one of the two cases. A PowerPoint slide summarizing this article is available for download in the Supporting Information section http://dx.doi.org/10.1111/epi.12596/supinfo.
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PMID:Long-term outcome after limited cortical resections in two cases of adult-onset Rasmussen encephalitis. 2470 22

Rasmussen encephalitis (RE) is a rare neurological disorder of childhood characterized by uni-hemispheric inflammation, progressive neurological deficits and intractable focal epilepsy. The pathogenesis of RE is still enigmatic. Activation of endogenous high-mobility group box-1 (HMGB1) and Toll-like receptor (TLR) has been proved to be with pro-inflammatory as well as pro-convulsant effects. We hypothesized that the epileptogenic mechanisms underlying RE are related to activation of HMGB1/TLR signaling. Immunnohistochemistry approach was used to examine the expression of HMGB1, TLR2, TLR4, receptor for advanced glycation end products (RAGE) in surgically resected human epileptic cortical specimens from RE (n=12), and compared that with control cortical issue (n=6). HMGB1 was ubiquitously detected in nuclei of astrocytes while its receptors were not detected in control cortex specimens. Marked expression of the receptors were observed in the lesions of RE. In particular, HMGB1 was in stead detected in cytoplasm of reactive astrocytes in RE cortex, predictive its release from glial cells. Significant greater HMGB1 and its receptors expression in RE vs. control was demonstrated by western blot. These results provide the novel evidence of intrinsic activation of these pro-inflammation pathways in RE, which suggest the specific targets in the treatment of epilepsy associated with RE.
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PMID:Upregulation of HMGB1, toll-like receptor and RAGE in human Rasmussen's encephalitis. 2710 5


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