Hemikonvülziyon Hemipleji Epilepsi Sendromu
Özet
Hemikonvülziyon-hemipleji-epilepsi (HHE), nadir görülen gelişimsel ve epileptik ensefalopati sendromlarından biridir. Etiyopatogenezi henüz net olarak aydınlatılamamıştır. Karakteristik klinik tablo, genellikle ateşli bir hastalıkla tetiklenen ve saatler ile günler boyunca devam eden uzun süreli fokal motor status epileptikusu içerir. Nörogörüntüleme çalışmaları, akut dönemde etkilenen hemisferde sitotoksik ödem ve ardından ilerleyici tek taraflı atrofi gösterir. İlk nöbetten sonraki günler/ aylar içinde tek taraflı hemiparezi gelişir. Hemiparezi genellikle kalıcı olsa da zaman içinde iyileşme veya hafif seyir gösteren vakalar da bildirilmiştir. Çoğu hasta, status epileptikus sonrası nöbetsiz bir dönemi takiben tekrarlayan nöbetler geçirirler ve bu nöbetler sıklıkla antiepileptik ilaçlara dirençlidir.
Hemiconvulsion-hemiplegia-epilepsy (HHE) is a rare developmental and epileptic encephalopathy syndrome. The etiopathogenesis is still not clear. The characteristic clinical presentation involves a prolonged focal motor status epilepticus, typically triggered by a febrile illness and persists for hours to days. Neuroimaging studies reveal cytotoxic edema in the affected hemisphere during the acute phase, followed by progressive unilateral atrophy. Unilateral hemiparesis develops within days/ months after the initial seizure. While the hemiparesis is usually permanent, some reports have shown either improvement or a mild course over time. Most patients have recurrent seizures following a seizure-free period after status epilepticus and these seizures are often resistant to antiepileptic drugs.
Referanslar
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1398-1442.
Jayakody H, Joshi C. Fatal outcome in hemiconvulsion-hemiplegia syndrome. J Child Neurol. 2014;29(3):406-411.
Auvin S, Bellavoine V, Merdariu D, Delanoë C, Elmaleh-Bergés M, Gressens P, et al. Hemiconvulsion–hemiplegia–epilepsy syndrome: Current understandings. European Journal of Paediatric Neurology. 2012;16(5):413-421.
Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y. Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation. Pediatric Neurology. 2011;45(3):193-196.
Wakamoto H, Ohta M, Nakano N. Hypercytokinemia in hemiconvulsions-hemiplegia syndrome associated with dual infection with varicella zoster and Epstein-Barr viruses. Neuropediatrics. 2002;33(5):262-265.
Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK. Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. Epilepsy Res. 2013;106(3):440-445.
Myers KA, Dudley RW, Srour M. Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency. Epileptic Disord. 2018;20(6):545-550.
Xue J, Song Z, Yi Z, Yang C, Li F, Liu K, et al. Hemiconvulsion-hemiplegia-epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association. Int J Dev Neurosci. 2021;81(6):539-543.
Moschopoulos C, Peters JM, Takeoka M, Stredny CM. Infantile Hemiconvulsion-Hemiplegia and Epilepsy (IHHE) in a boy with tuberous sclerosis complex. Epilepsy & Behavior Reports. 2021;16:100473.
Itamura S, Okanishi T, Arai Y, Nishimura M, Baba S, Ichikawa N, et al. Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId. Frontiers in Neurology. 2019;10.
Kumar P, Nagarajan B, Vyas S, Suthar R, Sankhyan N. Hemiconvulsion Hemiplegia Epilepsy (HHE) Syndrome after Perinatal Hypoxic–Ischemic Injury. Indian Journal of Pediatrics. 2022;89(7):733-733.
Assadeck H, Toudou Daouda M, Mamadou Z, Moussa Konate M, Hassane Djibo F, Douma Maiga D. Hemiconvulsion-hemiplegia-epilepsy syndrome in Niger: A retrospective case series. Journal of Clinical Neuroscience. 2019;65:121-124.
Stephens JR, Sams C. Hemiconvulsion–Hemiplegia–Epilepsy Syndrome. The Journal of Pediatrics. 2017;182:399.
Gong P, Karakas C, Morgan B. Child Neurology: Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in the Setting of COVID-19 Infection and Multisystem Inflammatory Syndrome. Neurology. 2022.
Barcia G, Desguerre I, Carmona O, Barnerias C, Chemaly N, Gitiaux C, et al. Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol. 2013;55(12):1150-1158.
Welcker S, Grams A, Gizewski E, Neubauer B, Hahn A. Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. Klin Padiatr. 2013;225(2):86-87.
Zhang T, Ma J. Focal Status Epilepticus-Related Unilateral Brain Edema: Magnetic Resonance Imaging Study of Children in Southwest China. Pediatric Neurology. 2019;92:60-66.
Toldo I, Calderone M, Boniver C, Dravet C, Guerrini R, Laverda AM. Hemiconvulsion–hemiplegia–epilepsy syndrome: Early magnetic resonance imaging findings and neuroradiological follow-up. Brain and Development. 2007;29(2):109-111.
Ponnusamy A, Nv Moosa A. Hemiconvulsion-hemiplegia-epilepsy syndrome in a child with pre-existing cerebral pathology. Epileptic Disord. 2017;19(2):231.
van Toorn R, Janse van Rensburg P, Solomons R, Ndondo AP, Schoeman JF. Hemiconvulsion-hemiplegia-epilepsy syndrome in South African children: Insights from a retrospective case series. European Journal of Paediatric Neurology. 2012;16(2):142-148.
Albakaye M, Belaïdi H, Lahjouji F, Errguig L, Kuate C, Maiga Y, et al. Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome. Epilepsy & Behavior. 2018;80:184-190.
Bourrous M, Lagmiri K, Amine M, Abidi M, Bouskraoui M. Le syndrome hémiconvulsion-hémiplégie-épilepsie de l’enfant. Journal de Pédiatrie et de Puériculture. 2010;23(6):322-327.
Myers KA, Scheffer IE, Archer JS. Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype. Brain and Development. 2018;40(5):425-428.
Shimakawa S, Nomura S, Ogino M, Fukui M, Kashiwagi M, Tanabe T, et al. ACTH therapy on intractable epilepsy in Hemiconvulsion–Hemiplegia–Epilepsy syndrome. Brain and Development. 2015;37(7):733-737.
Kim DW, Kim KK, Chu K, Chung CK, Lee SK. Surgical treatment of delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy syndrome. Neurology. 2008;70(22 Part 2):2116.
Referanslar
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1398-1442.
Jayakody H, Joshi C. Fatal outcome in hemiconvulsion-hemiplegia syndrome. J Child Neurol. 2014;29(3):406-411.
Auvin S, Bellavoine V, Merdariu D, Delanoë C, Elmaleh-Bergés M, Gressens P, et al. Hemiconvulsion–hemiplegia–epilepsy syndrome: Current understandings. European Journal of Paediatric Neurology. 2012;16(5):413-421.
Yamazaki S, Ikeno K, Abe T, Tohyama J, Adachi Y. Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation. Pediatric Neurology. 2011;45(3):193-196.
Wakamoto H, Ohta M, Nakano N. Hypercytokinemia in hemiconvulsions-hemiplegia syndrome associated with dual infection with varicella zoster and Epstein-Barr viruses. Neuropediatrics. 2002;33(5):262-265.
Kim DW, Lim BC, Kim KJ, Chae JH, Lee R, Lee SK. Low incidence of SCN1A genetic mutation in patients with hemiconvulsion-hemiplegia-epilepsy syndrome. Epilepsy Res. 2013;106(3):440-445.
Myers KA, Dudley RW, Srour M. Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency. Epileptic Disord. 2018;20(6):545-550.
Xue J, Song Z, Yi Z, Yang C, Li F, Liu K, et al. Hemiconvulsion-hemiplegia-epilepsy syndrome with 5q33.3q34 microdeletion: Causal or chance association. Int J Dev Neurosci. 2021;81(6):539-543.
Moschopoulos C, Peters JM, Takeoka M, Stredny CM. Infantile Hemiconvulsion-Hemiplegia and Epilepsy (IHHE) in a boy with tuberous sclerosis complex. Epilepsy & Behavior Reports. 2021;16:100473.
Itamura S, Okanishi T, Arai Y, Nishimura M, Baba S, Ichikawa N, et al. Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId. Frontiers in Neurology. 2019;10.
Kumar P, Nagarajan B, Vyas S, Suthar R, Sankhyan N. Hemiconvulsion Hemiplegia Epilepsy (HHE) Syndrome after Perinatal Hypoxic–Ischemic Injury. Indian Journal of Pediatrics. 2022;89(7):733-733.
Assadeck H, Toudou Daouda M, Mamadou Z, Moussa Konate M, Hassane Djibo F, Douma Maiga D. Hemiconvulsion-hemiplegia-epilepsy syndrome in Niger: A retrospective case series. Journal of Clinical Neuroscience. 2019;65:121-124.
Stephens JR, Sams C. Hemiconvulsion–Hemiplegia–Epilepsy Syndrome. The Journal of Pediatrics. 2017;182:399.
Gong P, Karakas C, Morgan B. Child Neurology: Hemiconvulsion-Hemiplegia-Epilepsy Syndrome in the Setting of COVID-19 Infection and Multisystem Inflammatory Syndrome. Neurology. 2022.
Barcia G, Desguerre I, Carmona O, Barnerias C, Chemaly N, Gitiaux C, et al. Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children. Dev Med Child Neurol. 2013;55(12):1150-1158.
Welcker S, Grams A, Gizewski E, Neubauer B, Hahn A. Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. Klin Padiatr. 2013;225(2):86-87.
Zhang T, Ma J. Focal Status Epilepticus-Related Unilateral Brain Edema: Magnetic Resonance Imaging Study of Children in Southwest China. Pediatric Neurology. 2019;92:60-66.
Toldo I, Calderone M, Boniver C, Dravet C, Guerrini R, Laverda AM. Hemiconvulsion–hemiplegia–epilepsy syndrome: Early magnetic resonance imaging findings and neuroradiological follow-up. Brain and Development. 2007;29(2):109-111.
Ponnusamy A, Nv Moosa A. Hemiconvulsion-hemiplegia-epilepsy syndrome in a child with pre-existing cerebral pathology. Epileptic Disord. 2017;19(2):231.
van Toorn R, Janse van Rensburg P, Solomons R, Ndondo AP, Schoeman JF. Hemiconvulsion-hemiplegia-epilepsy syndrome in South African children: Insights from a retrospective case series. European Journal of Paediatric Neurology. 2012;16(2):142-148.
Albakaye M, Belaïdi H, Lahjouji F, Errguig L, Kuate C, Maiga Y, et al. Clinical aspects, neuroimaging, and electroencephalography of 35 cases of hemiconvulsion-hemiplegia syndrome. Epilepsy & Behavior. 2018;80:184-190.
Bourrous M, Lagmiri K, Amine M, Abidi M, Bouskraoui M. Le syndrome hémiconvulsion-hémiplégie-épilepsie de l’enfant. Journal de Pédiatrie et de Puériculture. 2010;23(6):322-327.
Myers KA, Scheffer IE, Archer JS. Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype. Brain and Development. 2018;40(5):425-428.
Shimakawa S, Nomura S, Ogino M, Fukui M, Kashiwagi M, Tanabe T, et al. ACTH therapy on intractable epilepsy in Hemiconvulsion–Hemiplegia–Epilepsy syndrome. Brain and Development. 2015;37(7):733-737.
Kim DW, Kim KK, Chu K, Chung CK, Lee SK. Surgical treatment of delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy syndrome. Neurology. 2008;70(22 Part 2):2116.
