ラスムッセン症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- Danish ethnologist and Arctic explorer; led expeditions into the Arctic to find support for his theory that Eskimos and North American Indians originally migrated from Asia (1879-1933) (同)Kund Johan Victor Rasmussen
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/05/19 13:38:29」(JST)
[Wiki en表示]
Rasmussen syndrome is a condition characterized by multiple trichoepitheliomas.
See also
- List of cutaneous neoplasms associated with systemic syndromes
- List of cutaneous conditions
References
- Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 1-4160-2999-0.
- James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
UpToDate Contents
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English Journal
- Incidence, risk factors, and implemented prophylaxis of varicella zoster virus infection, including complicated varicella zoster virus and herpes simplex virus infections, in lenalidomide-treated multiple myeloma patients.
- König C, Kleber M, Reinhardt H, Knop S, Wäsch R, Engelhardt M.Author information Department of Hematology and Oncology, Medical Center, University of Freiburg, Freiburg, Germany.AbstractIn the era of high-dose chemotherapy and novel antimyeloma agents, the survival of multiple myeloma (MM) patients has substantially improved. Adverse effects, including infections, may however arise in the era of combination antimyeloma therapies. In general, MM patients have shown a risk of varicella zoster virus (VZV) infection of 1-4 %, increasing with bortezomib treatment or transplants, but whether immunomodulatory drugs also bear a risk of VZV/complicated herpes simplex virus (HSV) (e.g., VZV-encephalitis [VZV-E], disseminated VZV-infection [d-VZV-i], or conus-cauda syndrome [CCS]) has not been elucidated. We here assessed VZV, VZV-E, d-VZV-i, and CCS in 93 lenalidomide-treated MM patients, consecutively seen and treated in our department. Patients' data were analyzed via electronic medical record retrieval within our research data warehouse as described previously. Of the 93 MM patients receiving lenalidomide, 10 showed VZV or other complicated VZV/HSV infections. These VZV patients showed defined risk factors as meticulously assessed, including suppressed lymphocyte subsets, substantial cell-mediated immune defects, and compromised humoral immune response. Due to our findings-and in line with an aciclovir prophylaxis in bortezomib and stem cell transplant protocols-we introduced a routine aciclovir prophylaxis in our lenalidomide protocols in May 2012 to minimize adverse events and to avoid discontinuation of lenalidomide treatment. Since then, we have observed no case of VZV/complicated HSV infection. Based on our data, we encourage other centers to also focus on these observations, assess viral infections, and-in those centers facilitating a research data warehouse-advocate an analogue data review as an appropriate multicenter approach.
- Annals of hematology.Ann Hematol.2014 Mar;93(3):479-84. doi: 10.1007/s00277-013-1951-6. Epub 2013 Dec 7.
- In the era of high-dose chemotherapy and novel antimyeloma agents, the survival of multiple myeloma (MM) patients has substantially improved. Adverse effects, including infections, may however arise in the era of combination antimyeloma therapies. In general, MM patients have shown a risk of varicel
- PMID 24318541
- Molecular and cellular mechanisms underlying anti-neuronal antibody mediated disorders of the central nervous system.
- van Coevorden-Hameete MH1, de Graaff E2, Titulaer MJ3, Hoogenraad CC4, Sillevis Smitt PA5.Author information 1Department of Biology, Division of Cell Biology, Utrecht University, Padualaan 8, 3584 CH, Utrecht, The Netherlands. Electronic address: M.HvanCoevorden-Hameete@uu.nl.2Department of Biology, Division of Cell Biology, Utrecht University, Padualaan 8, 3584 CH, Utrecht, The Netherlands. Electronic address: E.deGraaff@uu.nl.3Department of Neurology, Erasmus MC, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands. Electronic address: M.Titulaer@erasmusmc.nl.4Department of Biology, Division of Cell Biology, Utrecht University, Padualaan 8, 3584 CH, Utrecht, The Netherlands. Electronic address: C.Hoogenraad@uu.nl.5Department of Neurology, Erasmus MC, 's-Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands. Electronic address: P.Sillevissmit@erasmusmc.nl.AbstractOver the last decade multiple autoantigens located on the plasma membrane of neurons have been identified. Neuronal surface antigens include molecules directly involved in neurotransmission and excitability. Binding of the antibody to the antigen may directly alter the target protein's function, resulting in neurological disorders. The often striking reversibility of symptoms following early aggressive immunotherapy supports a pathogenic role for autoantibodies to neuronal surface antigens. In order to better understand and treat these neurologic disorders it is important to gain insight in the underlying mechanisms of antibody pathogenicity. In this review we discuss the clinical, circumstantial, in vitro and in vivo evidence for neuronal surface antibody pathogenicity and the possible underlying cellular and molecular mechanisms. This review shows that antibodies to neuronal surface antigens are often directed at conformational epitopes located in the extracellular domain of the antigen. The conformation of the epitope can be affected by specific posttranslational modifications. This may explain the distinct clinical phenotypes that are seen in patients with antibodies to antigens that are expressed throughout the brain. Furthermore, it is likely that there is a heterogeneous antibody population, consisting of different IgG subtypes and directed at multiple epitopes located in an immunogenic region. Binding of these antibodies may result in different pathophysiological mechanisms occurring in the same patient, together contributing to the clinical syndrome. Unraveling the predominant mechanism in each distinct antigen could provide clues for therapeutic interventions.
- Autoimmunity reviews.Autoimmun Rev.2014 Mar;13(3):299-312. doi: 10.1016/j.autrev.2013.10.016. Epub 2013 Nov 10.
- Over the last decade multiple autoantigens located on the plasma membrane of neurons have been identified. Neuronal surface antigens include molecules directly involved in neurotransmission and excitability. Binding of the antibody to the antigen may directly alter the target protein's function, res
- PMID 24225076
- Cerebral vasculitis in adults: what are the steps in order to establish the diagnosis? Red flags and pitfalls.
- Berlit P, Kraemer M.Author information Department of Neurology, Alfried Krupp Hospital, Essen, Germany.AbstractCerebral vasculitis is a rare cause of juvenile stroke. It may occur as primary angiitis of the central nervous system (PACNS) or as CNS manifestation in the setting of systemic vasculitis. Clinical hints for vasculitis are headache, stroke, seizures, encephalopathy and signs of a systemic inflammatory disorder. Diagnostic work-up includes anamnesis, whole body examination, laboratory and cerebral spinal fluid (CSF) studies, magnetic resonance imaging (MRI), angiography and brain biopsy. Due to the rarity of the disease, exclusion of more frequent differential diagnoses is a key element of diagnostic work -up. This review summarizes the steps that lead to the diagnosis of cerebral vasculitis and describes the red flags and pitfalls. Despite considering the dilemma of angiography-negative vasculitis and false-negative brain biopsy in some cases, it is important to protect patients from 'blind' immunosuppressive therapy in unrecognized non-inflammatory differential diagnosis.
- Clinical and experimental immunology.Clin Exp Immunol.2014 Mar;175(3):419-24. doi: 10.1111/cei.12221.
- Cerebral vasculitis is a rare cause of juvenile stroke. It may occur as primary angiitis of the central nervous system (PACNS) or as CNS manifestation in the setting of systemic vasculitis. Clinical hints for vasculitis are headache, stroke, seizures, encephalopathy and signs of a systemic inflammat
- PMID 24117125
Japanese Journal
- 失語発作を主症状とする成人型ラスムッセン症候群の一例
- けいれん発作 (特集 脳・神経系の画像診断) -- (臨床症状からみた画像診断)
- P1-8 ステロイドパルスとタクロリムス内服療法にて脳波と局所脳代謝の改善を認めたRasmussen症候群の1例(薬物治療2,一般演題(ポスター),第42回日本てんかん学会)
Related Links
- Ras·mus·sen encephalitis (ras'mŭs-ĕn), encephalitis in which antibodies to a stimulatory glutamate receptor in the CNS are found; perhaps autoimmune. Synonym(s): Rasmussen syndrome Ras·mus·sen en·ceph·a·li·tis (ras'mus-ĕn ...
- Rasmussen syndrome symptoms, causes, diagnosis, and treatment information for Rasmussen syndrome (Rasmussen-Johnsen-Thomsen syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research ...
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- 英
- Rasmussen's syndrome, Rasmussen syndrome
- 同
- Rasmussen症候群
- 関
- 脳炎 encephalitis brain inflammation、感染性脳炎 infectious encephalitis、コジェヴニコフてんかん、難治性てんかん
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概念
- 小児の慢性進行持続性部分てんかん
- 感染などをきっかけに発病する自己免疫性の難治なてんかん発作を主体とする疾患。
- グルタミン酸受容体等に対する自己免疫によりてんかん発作重積・知的退行・片麻痺が起こる進行性の中枢神経疾患。
疫学
- 難治てんかんの1/1000、日本では250人程度と推定されている。
- 発病年齢：平均7.2±6.4歳。成人の発病例あり
病因
臨床像
発症時
- 誘因暴露(上気道炎、扁桃炎、ワクチン接種)から2週間後に発症する例は40%。残りはてんかん発作で発症。
- てんかんの型は部分起始性の全般性強直間代発作や 焦点運動発作。
- 頻度は最初は月に1～数回。徐々に頻度は増加。
- 薬物によるてんかん発作のコントロールは不良。
発作頻度増加
- 発症から数ヶ月の経過で発作の頻度が徐々に増加し、発症後2年程度で発作が持続的となる。
- 半数以上の例で、本疾患に特徴的な持続性部分てんかんが出現。
- 局所のミオクロニーが何ヶ月～何年にも渡って持続。初期では1肢にとどまるが、次第に同側他肢に広がり、ついには対側肢にも出現してくる。
症状固定
- 片麻痺や知的障害が出現して6ヶ月程度で症状が固定。てんかん発作は減少傾向。
- 成人期には精神症状も出現しうる。
診断
- 1. 感染の後発症
- 2. 徐々にてんかん発作の頻度が増加
- 3. 一側の半球障害に基づく片麻痺や視野障害
- 4. 脳波検査：一側の半球の徐波
- 5. MRI：病変部の消退、移動がみられる
- 6. 髄液検査：Granzyme B濃度(細胞傷害性T細胞が放出)。神経自己抗体(グルタミン酸受容体抗体など)
治療
- 薬物療法
- 1.ステロイドパルス治療
- 2.ガンマグロブリン療法
- 3.タクロリムス
- 4.血漿交換療法
- 手術療法
- 機能的半球切除：focusが言語優位半球側の反対側で全麻痺となっている場合。
参考文献
- 1. Focal seizures due to chronic localized encephalitis.
- RASMUSSEN T, OLSZEWSKI J, LLOYDSMITH D.
- Neurology.Neurology.1958 Jun;8(6):435-45.
- PMID 13566382
- http://child-neuro-jp.org/visitor/qa2/a33.html
- http://child-neuro-jp.org/visitor/iken2/rasmussen.html
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