Rasmussen Sendromu
Özet
Rasmussen ensefaliti (RE) ilk olarak 1958 te beyin cerrahı Theodore Rasmussen ve meslektaşları tarafından tanımlanmıştır. Rasmussen ensefaliti, serebral hemisferlerin tek taraflı ilerleyici nörodejenerasyonla sonuçlanan, nadir görülen, kronik inflamatuar bir beyin hastalığıdır. Enflamatuar sürece, ilaca dirençli parsiyel epilepsi ile ilişkili olarak etkilenen hemisferde ilerleyici fonksiyon kaybı eşlik eder. Tedavinin amacı nöbetlerin sayısını ve şiddetini azaltmak, nörolojik hasarın ilerlemesini durdurmaktır. Etyolojide immün ve inflamasyon sürecin etkisi düşünüldüğü için immünsupresif ve immünomodülatör tedavinin süreci yavaşlatması, baskılaması amaçlanmaktadır.
Rasmussen encephalitis (RE) was first described in 1958 by neurosurgeon Theodore Rasmussen and his colleagues. Rasmussen encephalitis is a rare, chronic inflammatory brain disease that results in unilateral progressive neurodegeneration of the cerebral hemispheres. The inflammatory process is accompanied by progressive loss of function in the affected hemisphere, which is associated with drug-resistant partial epilepsy. The aim of treatment is to reduce the number and severity of seizures and stop the progression of neurological damage. Since the effect of the immune and inflammatory process is considered in the etiology, immunosuppressive and immunomodulatory treatment is aimed to slow down and suppress the process.
Referanslar
Rasmussen T, Olszewski J, Lloyd-Smith D. Focal seizures due to chronic localized encephalitis. Neurology. 1958; 8:435–45. [PubMed: 13566382]
Oguni H, Andermann F, Rasmussen TB. The syndrome of chronic encephalitis and epilepsy: a study based on the MNI series of 48 cases. Adv Neurol 1992;57:419–33 [PMID: 1543071].
Bien CG, Widman G, Urbach H, Assen R, Kuczaty S, Wiestler OD, et al. The natural history of Rasmussens encephalitis. Brain 2002;125(8):1751–9. http://dx.doi.org/10.1093/brain/ awf176.
Bien CG, Tiemeier H, Sassen R, et al. Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. Epilepsia. 2013; 54:543–50. [PubMed: 23216622] 5.
Lamb K, Scott WJ, Mensah A, et al. Prevalence and clinical outcome of Rasmussen encephalitis in children from the United Kingdom. Dev Med Child Neurol. 2013; 55(suppl 1):14.
Varadkar S, Bien CG, Kruse CA, et al. Rasmussens encephalitis: clinical features, pathobiology, and treatment advances. Lancet Neurol 2014;13(2):195–205. http:// dx.doi.org/10.1016/S1474-4422(13)70260-6
Bien CG, Bauer J, Deckwerth TL, Wiendl H, Deckert M, Wiestler OD, et al. Destruction of neurons by cytotoxic T cells: a new pathogenic mechanism in Rasmussen's encephalitis. Ann Neurol. 2002;51:311–8.
Bauer J, Elger CE, Hans VH, Schramm J, Urbach H, Lassmann H, et al. Astrocytes are a specific immunological target in Rasmussen's encephalitis. Ann Neurol. 2007;62:67–80.
Matricardi S, Farello G, Savasta S, Verrotti A. Understanding childhood neuroimmune diseases of the central nervous system. Front Pediatr 2019;7:1–22. http://dx.doi.org/10.3389/ fped.2019.00511
Pardo CA, vining eP, Guo l, Skolasky rl, Carson BS, Freeman jM. The pathology of rasmussen syndrome: stages of cortical involvement and neuropathological studies in 45 hemispherectomies. epilepsia. 2004;45(5):516- 26. doi: 10.1111/j.0013-9580.2004.33103.x
Wagner J, Schoene-Bake JC, Bien CG, et al. Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. Epilepsia. 2012; 53:613–21. [PubMed: 22309137]
Robitaille, Y. Neuropathologic aspects of chronic encephalitis. In: Andermann, F., editor. Chronic encephalitis and epilepsy Rasmussen’s syndrome. Boston: Butterworth-Heinemann; 1991. p. 79-110
Hart YM, Andermann F, Robitaille Y, Laxer KD, Rasmussen T, Davis R. Double pathology in Rasmussen’s syndrome: a window on the etiology? Neurology 1998;50(3):731–5
Ohmori I, Ouchida M, Kobayashi K, et al. Rasmussen encephalitis associated with SCN 1 A mutation. Epilepsia. 2008; 49:521–26. [PubMed: 18031552]
Mantegazza r, Bernasconi P, Baggi F, Spreafico r, ragona F, Antozzi C, et al. Antibodies against Glur3 peptides are not specific for rasmussen’s encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures. j neuroimmunol. 2002;131(1-2):179-85. doi: 10.1016/s0165-5728(02)00261-8.
Friedman H, Ch’ien L, Parham D. Virus in brain of child with hemiplegia, hemiconvulsions, and epilepsy. Lancet. 1977; 310:666. [PubMed: 71487] 53.
Walter GF, Renella RR. Epstein-Barr virus in brain and Rasmussen’s encephalitis. Lancet. 1989; 1:279–80. [PubMed: 2563444] 54.
Power C, Poland SD, Blume WT, Girvin JP, Rice GP. Cytomegalovirus and Rasmussen’s encephalitis. Lancet. 1990; 336:1282–84. [PubMed: 1978116] 55.
Jay V, Becker LE, Otsubo H, et al. Chronic encephalitis and epilepsy (Rasmussen’s encephalitis): detection of cytomegalovirus and herpes simplex virus 1 by the polymerase chain reaction and in situ hybridization. Neurology. 1995; 45:108–17. [PubMed: 7824098]
Schafer DP, Lehrman EK, Kautzman AG, et al. Microglia sculpt postnatal neural circuits in an activity and complement-dependent manner. Neuron. 2012; 74:691–705. [PubMed: 22632727] 60.
Stephan AH, Barres BA, Stevens B. The complement system: an unexpected role in synaptic pruning during development and disease. Annu Rev Neurosci. 2012; 35:369–89. [PubMed: 22715882]
Bien CG, Granata T, Antozzi C, Cross JH, Dulac O, Kurthen M, et al. Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. Brain 2005;128(
Muto A, Oguni H, Takahashi Y, et al. Nationwide survey (incidence, clinical course, prognosis) of Rasmussens encephalitis. Brain Dev 2010;32(6):445–53.
longaretti F, Dunkley C, varadkar S, vargha-Khadem F, Boyd SG, Cross jH. evolution of the EEG in children with rasmussen’s syndrome. epilepsia. 2012;53(9):1539-45. doi: 10.1111/j.1528-1167.2012.03565.x
Dupont S, Gales A, Sammey S, Vidailhet M, Lambrecq V. Late-onset Rasmussen encephalitis: a literature appraisal. Autoimmun Rev 2017;16(8):803–10. http://dx.doi.org/ 10.1016/j.autrev.2017.05.022
Frucht S. Dystonia, athetosis, and epilepsia partialis continua in a patient with late-onset Rasmussens encephalitis. Mov Disord 2002;17:609–12. http://dx.doi.org/ 10.1002/mds.10131 [PMID: 12112219].
Korn-Lubetzki I, Bien CG, Bauer J, Gomori M, Wiendl H, Trajo L, et al. Rasmussen encephalitis with active inflammation and delayed seizures onset. Neurology 2004;62(6):984–6. http://dx.doi.org/10.1212/ 01.wnl.0000115393.67403.53 [PMID: 15037707].
Chinchilla D, Dulac O, Robain O, et al. Reappraisal of Rasmussen’s syndrome with special emphasis on treatment with high doses of steroids. J Neurol Neurosurg Psychiatry. 1994; 57:1325– 33. [PubMed: 7964806] 21.
Tobias SM, Robitaille Y, Hickey WF, et al. Bilateral Rasmussen encephalitis: postmortem documentation in a five-year-old. Epilepsia. 2003; 44:127–30. [PubMed: 12581240]
Villeneuve N, Lépine A, Girard N, Guedj E, Daquin G. Rasmussen's encephalitis: Early diagnostic criteria in children. Rev Neurol (Paris). 2022 Sep;178(7):666-674. doi: 10.1016/j.neurol.2022.03.012. Epub 2022 May 11. PMID: 35568516
Bien CG, Elger CE, Leitner Y, et al. Slowly progressive hemiparesis in childhood as a consequence of Rasmussen encephalitis without or with delayed-onset seizures. Eur J Neurol. 2007; 14:387–90. [PubMed: 17388985] 23.
Bien CG, Urbach H, Deckert M, Schramm J, Wiestler OD, Lassmann H, et al. Diagnosis and staging of Rasmussen’s encephalitis by serial MRI and histopathology. Neurology 2002;58(2):250–7. CrossRef
Maeda Y, Oguni H, Saitou Y, et al. Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. Epilepsia 2003;44(8):1118–21. http://dx.doi.org/ 10.1046/j.1528-1157.2003.67602.x.
Browner N, Azher SN, Jankovic J. Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. Mov Disord. 2006; 21:1500–02. [PubMed: 16758485] 68.
Lozsadi DA, Hart IK, Moore AP. Botulinum toxin A improves involuntary limb movements in Rasmussen syndrome. Neurology. 2004; 62:1233–34. [PubMed: 15079040]
Granata T, Fusco l, Gobbi G, Freri e, ragona F, Broggi G, et al. experience with immunomodulatory treatments in rasmussen’s encephalitis. neurology. 2003;61(12):1807-10. doi: 10.1212/01.wnl.0000099074.04539.e0
Thilo B, Stingele r, Knudsen K, Boor r, Bien CG, Deuschl G, et al. A case of rasmussen encephalitis treated with rituximab. nat rev neurol. 2009;5(8):458-62. doi: 10.1038/nrneurol.2009.98.
laxer KD, Wilfong A, Morris Glı, Andermann F. Pilot study of rituximab to treat chronic focal encephalitis. epilepsia. 2008;49:121.
Bien CG, Schramm J. Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma. Epilepsy Res. 2009; 86:101–12. [PubMed: 19615863
Takahashi Y, Yamazaki E, Mine J, et al. Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood. Brain Devel. 2013; 35:778–85. [PubMed: 23433490]
Althausen A, Gleissner U, Hoppe C, et al. Long-term outcome of hemispheric surgery at different ages in 61 epilepsy patients. J Neurol Neurosurg Psychiatry. 2013; 84:529–36. [PubMed: 23268362]
Vining E, Freeman J, Pillas D, et al. Why Would You Remove Half a Brain? The Outcome of 58 Children After Hemispherectomy—The Johns Hopkins Experience: 1968 to 1996. Pediatrics. 1997; 100:163–71. [PubMed: 9240794
Boatman D, Freeman J, Vining E, et al. Language recovery after left hemispherectomy in children with late-onset seizures. Ann Neurol. 1999; 46:579–86. [PubMed: 10514094]
Granata T, Gobbi G, Spreafico R, Vigevano F, Capovilla G, Ragona F, et al. Rasmussens encephalitis: early characteristics allow diagnosis. Neurology 2003;60:422–5. http://dx.doi.org/10.1212/wnl.60.3.422
Referanslar
Rasmussen T, Olszewski J, Lloyd-Smith D. Focal seizures due to chronic localized encephalitis. Neurology. 1958; 8:435–45. [PubMed: 13566382]
Oguni H, Andermann F, Rasmussen TB. The syndrome of chronic encephalitis and epilepsy: a study based on the MNI series of 48 cases. Adv Neurol 1992;57:419–33 [PMID: 1543071].
Bien CG, Widman G, Urbach H, Assen R, Kuczaty S, Wiestler OD, et al. The natural history of Rasmussens encephalitis. Brain 2002;125(8):1751–9. http://dx.doi.org/10.1093/brain/ awf176.
Bien CG, Tiemeier H, Sassen R, et al. Rasmussen encephalitis: Incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. Epilepsia. 2013; 54:543–50. [PubMed: 23216622] 5.
Lamb K, Scott WJ, Mensah A, et al. Prevalence and clinical outcome of Rasmussen encephalitis in children from the United Kingdom. Dev Med Child Neurol. 2013; 55(suppl 1):14.
Varadkar S, Bien CG, Kruse CA, et al. Rasmussens encephalitis: clinical features, pathobiology, and treatment advances. Lancet Neurol 2014;13(2):195–205. http:// dx.doi.org/10.1016/S1474-4422(13)70260-6
Bien CG, Bauer J, Deckwerth TL, Wiendl H, Deckert M, Wiestler OD, et al. Destruction of neurons by cytotoxic T cells: a new pathogenic mechanism in Rasmussen's encephalitis. Ann Neurol. 2002;51:311–8.
Bauer J, Elger CE, Hans VH, Schramm J, Urbach H, Lassmann H, et al. Astrocytes are a specific immunological target in Rasmussen's encephalitis. Ann Neurol. 2007;62:67–80.
Matricardi S, Farello G, Savasta S, Verrotti A. Understanding childhood neuroimmune diseases of the central nervous system. Front Pediatr 2019;7:1–22. http://dx.doi.org/10.3389/ fped.2019.00511
Pardo CA, vining eP, Guo l, Skolasky rl, Carson BS, Freeman jM. The pathology of rasmussen syndrome: stages of cortical involvement and neuropathological studies in 45 hemispherectomies. epilepsia. 2004;45(5):516- 26. doi: 10.1111/j.0013-9580.2004.33103.x
Wagner J, Schoene-Bake JC, Bien CG, et al. Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. Epilepsia. 2012; 53:613–21. [PubMed: 22309137]
Robitaille, Y. Neuropathologic aspects of chronic encephalitis. In: Andermann, F., editor. Chronic encephalitis and epilepsy Rasmussen’s syndrome. Boston: Butterworth-Heinemann; 1991. p. 79-110
Hart YM, Andermann F, Robitaille Y, Laxer KD, Rasmussen T, Davis R. Double pathology in Rasmussen’s syndrome: a window on the etiology? Neurology 1998;50(3):731–5
Ohmori I, Ouchida M, Kobayashi K, et al. Rasmussen encephalitis associated with SCN 1 A mutation. Epilepsia. 2008; 49:521–26. [PubMed: 18031552]
Mantegazza r, Bernasconi P, Baggi F, Spreafico r, ragona F, Antozzi C, et al. Antibodies against Glur3 peptides are not specific for rasmussen’s encephalitis but are also present in epilepsy patients with severe, early onset disease and intractable seizures. j neuroimmunol. 2002;131(1-2):179-85. doi: 10.1016/s0165-5728(02)00261-8.
Friedman H, Ch’ien L, Parham D. Virus in brain of child with hemiplegia, hemiconvulsions, and epilepsy. Lancet. 1977; 310:666. [PubMed: 71487] 53.
Walter GF, Renella RR. Epstein-Barr virus in brain and Rasmussen’s encephalitis. Lancet. 1989; 1:279–80. [PubMed: 2563444] 54.
Power C, Poland SD, Blume WT, Girvin JP, Rice GP. Cytomegalovirus and Rasmussen’s encephalitis. Lancet. 1990; 336:1282–84. [PubMed: 1978116] 55.
Jay V, Becker LE, Otsubo H, et al. Chronic encephalitis and epilepsy (Rasmussen’s encephalitis): detection of cytomegalovirus and herpes simplex virus 1 by the polymerase chain reaction and in situ hybridization. Neurology. 1995; 45:108–17. [PubMed: 7824098]
Schafer DP, Lehrman EK, Kautzman AG, et al. Microglia sculpt postnatal neural circuits in an activity and complement-dependent manner. Neuron. 2012; 74:691–705. [PubMed: 22632727] 60.
Stephan AH, Barres BA, Stevens B. The complement system: an unexpected role in synaptic pruning during development and disease. Annu Rev Neurosci. 2012; 35:369–89. [PubMed: 22715882]
Bien CG, Granata T, Antozzi C, Cross JH, Dulac O, Kurthen M, et al. Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. Brain 2005;128(
Muto A, Oguni H, Takahashi Y, et al. Nationwide survey (incidence, clinical course, prognosis) of Rasmussens encephalitis. Brain Dev 2010;32(6):445–53.
longaretti F, Dunkley C, varadkar S, vargha-Khadem F, Boyd SG, Cross jH. evolution of the EEG in children with rasmussen’s syndrome. epilepsia. 2012;53(9):1539-45. doi: 10.1111/j.1528-1167.2012.03565.x
Dupont S, Gales A, Sammey S, Vidailhet M, Lambrecq V. Late-onset Rasmussen encephalitis: a literature appraisal. Autoimmun Rev 2017;16(8):803–10. http://dx.doi.org/ 10.1016/j.autrev.2017.05.022
Frucht S. Dystonia, athetosis, and epilepsia partialis continua in a patient with late-onset Rasmussens encephalitis. Mov Disord 2002;17:609–12. http://dx.doi.org/ 10.1002/mds.10131 [PMID: 12112219].
Korn-Lubetzki I, Bien CG, Bauer J, Gomori M, Wiendl H, Trajo L, et al. Rasmussen encephalitis with active inflammation and delayed seizures onset. Neurology 2004;62(6):984–6. http://dx.doi.org/10.1212/ 01.wnl.0000115393.67403.53 [PMID: 15037707].
Chinchilla D, Dulac O, Robain O, et al. Reappraisal of Rasmussen’s syndrome with special emphasis on treatment with high doses of steroids. J Neurol Neurosurg Psychiatry. 1994; 57:1325– 33. [PubMed: 7964806] 21.
Tobias SM, Robitaille Y, Hickey WF, et al. Bilateral Rasmussen encephalitis: postmortem documentation in a five-year-old. Epilepsia. 2003; 44:127–30. [PubMed: 12581240]
Villeneuve N, Lépine A, Girard N, Guedj E, Daquin G. Rasmussen's encephalitis: Early diagnostic criteria in children. Rev Neurol (Paris). 2022 Sep;178(7):666-674. doi: 10.1016/j.neurol.2022.03.012. Epub 2022 May 11. PMID: 35568516
Bien CG, Elger CE, Leitner Y, et al. Slowly progressive hemiparesis in childhood as a consequence of Rasmussen encephalitis without or with delayed-onset seizures. Eur J Neurol. 2007; 14:387–90. [PubMed: 17388985] 23.
Bien CG, Urbach H, Deckert M, Schramm J, Wiestler OD, Lassmann H, et al. Diagnosis and staging of Rasmussen’s encephalitis by serial MRI and histopathology. Neurology 2002;58(2):250–7. CrossRef
Maeda Y, Oguni H, Saitou Y, et al. Rasmussen syndrome: multifocal spread of inflammation suggested from MRI and PET findings. Epilepsia 2003;44(8):1118–21. http://dx.doi.org/ 10.1046/j.1528-1157.2003.67602.x.
Browner N, Azher SN, Jankovic J. Botulinum toxin treatment of facial myoclonus in suspected Rasmussen encephalitis. Mov Disord. 2006; 21:1500–02. [PubMed: 16758485] 68.
Lozsadi DA, Hart IK, Moore AP. Botulinum toxin A improves involuntary limb movements in Rasmussen syndrome. Neurology. 2004; 62:1233–34. [PubMed: 15079040]
Granata T, Fusco l, Gobbi G, Freri e, ragona F, Broggi G, et al. experience with immunomodulatory treatments in rasmussen’s encephalitis. neurology. 2003;61(12):1807-10. doi: 10.1212/01.wnl.0000099074.04539.e0
Thilo B, Stingele r, Knudsen K, Boor r, Bien CG, Deuschl G, et al. A case of rasmussen encephalitis treated with rituximab. nat rev neurol. 2009;5(8):458-62. doi: 10.1038/nrneurol.2009.98.
laxer KD, Wilfong A, Morris Glı, Andermann F. Pilot study of rituximab to treat chronic focal encephalitis. epilepsia. 2008;49:121.
Bien CG, Schramm J. Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma. Epilepsy Res. 2009; 86:101–12. [PubMed: 19615863
Takahashi Y, Yamazaki E, Mine J, et al. Immunomodulatory therapy versus surgery for Rasmussen syndrome in early childhood. Brain Devel. 2013; 35:778–85. [PubMed: 23433490]
Althausen A, Gleissner U, Hoppe C, et al. Long-term outcome of hemispheric surgery at different ages in 61 epilepsy patients. J Neurol Neurosurg Psychiatry. 2013; 84:529–36. [PubMed: 23268362]
Vining E, Freeman J, Pillas D, et al. Why Would You Remove Half a Brain? The Outcome of 58 Children After Hemispherectomy—The Johns Hopkins Experience: 1968 to 1996. Pediatrics. 1997; 100:163–71. [PubMed: 9240794
Boatman D, Freeman J, Vining E, et al. Language recovery after left hemispherectomy in children with late-onset seizures. Ann Neurol. 1999; 46:579–86. [PubMed: 10514094]
Granata T, Gobbi G, Spreafico R, Vigevano F, Capovilla G, Ragona F, et al. Rasmussens encephalitis: early characteristics allow diagnosis. Neurology 2003;60:422–5. http://dx.doi.org/10.1212/wnl.60.3.422
