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Ohtahara syndrome

January 01, 1970

Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE)[2] is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life,[3] and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe intellectual disabilities. No single cause has been identified, although in many cases structural brain damage is present.[4]

Ohtahara syndrome[1]
Other namesEarly infantile epileptic encephalopathy with burst-suppression; Early Infantile Developmental & Epileptic Encephalopathy
SpecialtyNeurology 

Presentation edit

Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first three months of life, and often in the first ten days.[5] Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome.[4]

The primary outward manifestation of OS is seizures, usually presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs).[6] Other seizure types that may occur include focal seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental and physical disabilities.[citation needed]

Clinically, OS is characterized by a "burst suppression" pattern on an EEG. This pattern involves high voltage spike wave discharge followed by little brain wave activity.[4]

It is named for the Japanese neurologist Shunsuke Ohtahara (1930–2013), who identified it in 1976.[5]

Signs and symptoms edit

 
MRIs of a normal individual (left) and a patient with microcephaly caused by genetic mutation (right)

Both female and male infants born with OS may experience symptoms while asleep or awake. Many children die from OS within their first 2 years of life, while those who survive maintain physical and cognitive disabilities such as excessive fatigue, difficulty feeding, chest infections and slow developmental progress.[2][7] Although birth history and head size of infants is typically normal, microcephaly may occur.[3] Certain genetic variants manifest with additional signs such as dyskinetic movements and an atypical Rett-syndrome appearance.[8]

Causes edit

No single cause of OS has been identified. In most cases, there is severe atrophy of both hemispheres of the brain. Cerebral malformations such as hemimegalencephaly, porencephaly, Aicardi syndrome, olivary-dentate dysplasia, agenesis of mamillary bodies, linear sebaceous nevus syndrome, cerebral dysgenesis, and focal cortical dysplasia have been noted as suspect causes.[9]

Pathophysiology edit

Although it was initially published that no genetic connection had been established,[10] several genes have since become associated with Ohtahara syndrome. It can be associated with mutations in ARX,[11][12] CDKL5,[13] SLC25A22,[14] STXBP1,[15] SPTAN1,[16] KCNQ2,[17] ARHGEF9,[18] PCDH19,[19] PNKP,[20] SCN2A,[21] PLCB1,[22] SCN8A,[23] ST3GAL3,[2] TBC1D24,[2] BRAT1 [2] and likely others.

Less often, the root of the disorder is an underlying metabolic syndrome, though mitochondrial disorders, non-ketotic hyperglycinemia, and enzyme deficiency remain elusive as causes. Their mechanisms are not entirely known.[3]

Diagnosis edit

 
Electroencephalogram (EEG) displaying burst suppression patterns. Onset of bursts are indicated by solid arrows; offset, by open arrows. In both A and B, the interval between each vertical dotted line is one second

The diagnosis is based on the clinical presentation and on typical electroencephalographic patterns based on time of onset.[24][2] Typically, onset of seizures and spasms have been indicative of OS diagnosis, while MRI and abnormal EEG "burst suppression" pattern can confirm. Genetic testing with chromosomal microarray analysis followed by an epilepsy gene panel or whole exome sequencing may be considered after MRI imaging has been exhausted.[25][26]

Differential diagnoses between other epileptic encephalopathies such as West syndrome or Lennox-Gastaut syndrome are distinguished by myoclonic seizures and differences in spike-and-wave patterns on EEG.[27]

Treatment edit

Treatment outlook is poor. Anticonvulsant drugs and glucocorticoid steroids may be used to try to control the seizures, but their effectiveness is limited. Most therapies are related to symptoms and day-to-day living.[4] For cases related to focal brain lesions, epilepsy surgery or functional hemispherectomy may be considered.[7][3][28] Risk factors include infection, blood loss, loss of vision, speech, memory, or movement.[citation needed]

Therapy for those with OS are based on severity of seizure activity and are supportive in nature. This may include treatment for abnormal muscle tone, stomach or lung problems.[7] A ketogenic diet may be suggested for reduction of symptoms.[2] Should the child survive past the age of three, vagus nerve stimulation could be considered.[2] No recent findings allude to preventive methods for pregnant mothers.[citation needed]

Prognosis edit

Prognosis is poor for infants with OS, and can be characterized by management of seizures, effects of secondary symptoms and shortened life span (up to 3 years of age). Survivors have severe psychomotor impairments and are dependent on their caretaker for support. Family members of infants with OS may consult with a palliative care team as symptoms may worsen or develop. Death is often due to strain from seizure activity, pneumonia or other complications from motor disabilities.[8]

Prospects of recovering from OS after hemispherectomy surgery has been shown to be favorable, with patients experiencing "catch up" in development.[29]

Epidemiology edit

Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K.[30] Approximately 100 cases total have been reported but this may be an underestimate. since OS neonates with early death may escape clinico-EEG diagnosis.[9] Male cases slightly predominate those of females.

Current research edit

Currently, only one clinical trial has been performed to examine the efficacy of high-definition (HD) transcranial direct-current stimulation (HD-tDCS) in reducing epileptiform activity.[31]

Notable cases edit

Ivan Cameron, son of David Cameron, former leader of the British Conservative Party and Prime Minister of the UK, was born with the condition and cerebral palsy. He died aged six on 25 February 2009, while his father was still opposition leader.[32]

Dr William H. Thomas, a United States doctor, has two daughters with this condition. He spoke about them during a PBS interview.[33]

References edit

  1. ^ Berg AT, Berkovic SF, Brodie MJ, et al. (April 2010). "Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009". Epilepsia. 51 (4): 676–85. doi:10.1111/j.1528-1167.2010.02522.x. PMID 20196795.
  2. ^ a b c d e f g h "Ohtahara Syndrome". Epilepsy Foundation. Retrieved 2019-12-13.
  3. ^ a b c d "OHTAHARA SYNDROME". www.epilepsydiagnosis.org. Retrieved 2019-12-13.
  4. ^ a b c d National Institute of Neurological Disorders and Stroke (5 December 2008). . Archived from the original on 28 February 2009. Retrieved 2009-03-10.
  5. ^ a b Ohtahara S, Ishida T, Oka E, et al. (1976). "特異な年齢依存性てんかん性脳症the early-infantile epileptic encephalopathy with suppression-burstに関する研究" [On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst]. No to Hattatsu (in Japanese). 8 (4): 270–80. doi:10.11251/ojjscn1969.8.270.
  6. ^ Holmes, Gregory L. (January 2004). "Tonic". Epilepsy.com/Professionals. Retrieved 2007-11-26.
  7. ^ a b c "Ohtahara Syndrome Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2019-12-13.
  8. ^ a b RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Early infantile epileptic encephalopathy Ohtahara syndrome". www.orpha.net. Retrieved 2019-12-13.{{cite web}}: CS1 maint: numeric names: authors list (link)
  9. ^ a b "Ohtahara Syndrome". Epilepsy Foundation. Retrieved 2019-12-13.
  10. ^ Nabbout, Rima (July 2004). "Early infantile epileptic encephalopathy" (PDF).
  11. ^ Online Mendelian Inheritance in Man (OMIM): 308350
  12. ^ Kato M, Saitoh S, Kamei A, et al. (August 2007). "A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)". Am. J. Hum. Genet. 81 (2): 361–6. doi:10.1086/518903. PMC 1950814. PMID 17668384.
  13. ^ Online Mendelian Inheritance in Man (OMIM): 300203
  14. ^ Online Mendelian Inheritance in Man (OMIM): 609302
  15. ^ Online Mendelian Inheritance in Man (OMIM): 602926
  16. ^ Online Mendelian Inheritance in Man (OMIM): 182810
  17. ^ Online Mendelian Inheritance in Man (OMIM): 602235
  18. ^ Online Mendelian Inheritance in Man (OMIM): 300429
  19. ^ Online Mendelian Inheritance in Man (OMIM): 300460
  20. ^ Online Mendelian Inheritance in Man (OMIM): 605610
  21. ^ Online Mendelian Inheritance in Man (OMIM): 182390
  22. ^ Online Mendelian Inheritance in Man (OMIM): 607120
  23. ^ Online Mendelian Inheritance in Man (OMIM): 600702
  24. ^ Beal C, Cherian K, Moshe SL, et al. (2012). "Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy". Pediatric Neurology. 47 (5): 317–23. doi:10.1016/j.pediatrneurol.2012.06.002. PMID 23044011.
  25. ^ "Early Infantile Epileptic Encephalopathy". Centogene. 2017-07-20. Retrieved 2019-12-13.
  26. ^ "CentoPortal ®". www.centoportal.com. Retrieved 2019-12-13.
  27. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Early infantile epileptic encephalopathy". www.orpha.net. Retrieved 2019-12-13.{{cite web}}: CS1 maint: numeric names: authors list (link)
  28. ^ "Aaron's Ohtahara Foundation". sites.google.com. Retrieved 2019-12-13.
  29. ^ Malik, Saleem I.; Galliani, Carlos A.; Hernandez, Angel W.; Donahue, David J. (December 2013). "Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome)". Journal of Child Neurology. 28 (12): 1607–1617. doi:10.1177/0883073812464395. ISSN 1708-8283. PMID 23143728. S2CID 21646215.
  30. ^ "Maternal mortality ratio in selected countries, 2015". 2016-10-24. doi:10.1787/eco_surveys-idn-2016-graph65-en. {{cite journal}}: Cite journal requires |journal= (help)
  31. ^ "Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. 7 November 2016. Retrieved 2019-12-13.
  32. ^ "Cameron's 'beautiful boy' dies". BBC News Online. 25 February 2009. Retrieved 2009-03-10.
  33. ^ "Nursing Home Alternative". PBS. 2002-02-27.

External links edit

January 01, 1970
ohtahara, syndrome, also, known, early, infantile, developmental, epileptic, encephalopathy, eidee, progressive, epileptic, encephalopathy, syndrome, outwardly, characterized, tonic, spasms, partial, seizures, within, first, months, life, receives, more, elabo. Ohtahara syndrome OS also known as Early Infantile Developmental amp Epileptic Encephalopathy EIDEE 2 is a progressive epileptic encephalopathy The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life 3 and receives its more elaborate name from the pattern of burst activity on an electroencephalogram EEG It is an extremely debilitating progressive neurological disorder involving intractable seizures and severe intellectual disabilities No single cause has been identified although in many cases structural brain damage is present 4 Ohtahara syndrome 1 Other namesEarly infantile epileptic encephalopathy with burst suppression Early Infantile Developmental amp Epileptic EncephalopathySpecialtyNeurology Contents 1 Presentation 1 1 Signs and symptoms 2 Causes 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Prognosis 7 Epidemiology 8 Current research 9 Notable cases 10 References 11 External linksPresentation editOhtahara syndrome is rare and the earliest appearing age related epileptic encephalopathy with seizure onset occurring within the first three months of life and often in the first ten days 5 Many but not all cases of OS evolve into other seizure disorders namely West syndrome and Lennox Gastaut syndrome 4 The primary outward manifestation of OS is seizures usually presenting as tonic seizures a generalized seizure involving a sudden stiffening of the limbs 6 Other seizure types that may occur include focal seizures clusters of infantile spasms and rarely myoclonic seizures In addition to seizures children with OS exhibit profound mental and physical disabilities citation needed Clinically OS is characterized by a burst suppression pattern on an EEG This pattern involves high voltage spike wave discharge followed by little brain wave activity 4 It is named for the Japanese neurologist Shunsuke Ohtahara 1930 2013 who identified it in 1976 5 Signs and symptoms edit nbsp MRIs of a normal individual left and a patient with microcephaly caused by genetic mutation right Both female and male infants born with OS may experience symptoms while asleep or awake Many children die from OS within their first 2 years of life while those who survive maintain physical and cognitive disabilities such as excessive fatigue difficulty feeding chest infections and slow developmental progress 2 7 Although birth history and head size of infants is typically normal microcephaly may occur 3 Certain genetic variants manifest with additional signs such as dyskinetic movements and an atypical Rett syndrome appearance 8 Tonic seizures and spasms Muscle stiffness Dilated pupils Diplegia Hemiplegia Tetraplegia Ataxia DystoniaCauses editNo single cause of OS has been identified In most cases there is severe atrophy of both hemispheres of the brain Cerebral malformations such as hemimegalencephaly porencephaly Aicardi syndrome olivary dentate dysplasia agenesis of mamillary bodies linear sebaceous nevus syndrome cerebral dysgenesis and focal cortical dysplasia have been noted as suspect causes 9 Pathophysiology editAlthough it was initially published that no genetic connection had been established 10 several genes have since become associated with Ohtahara syndrome It can be associated with mutations in ARX 11 12 CDKL5 13 SLC25A22 14 STXBP1 15 SPTAN1 16 KCNQ2 17 ARHGEF9 18 PCDH19 19 PNKP 20 SCN2A 21 PLCB1 22 SCN8A 23 ST3GAL3 2 TBC1D24 2 BRAT1 2 and likely others Less often the root of the disorder is an underlying metabolic syndrome though mitochondrial disorders non ketotic hyperglycinemia and enzyme deficiency remain elusive as causes Their mechanisms are not entirely known 3 Diagnosis edit nbsp Electroencephalogram EEG displaying burst suppression patterns Onset of bursts are indicated by solid arrows offset by open arrows In both A and B the interval between each vertical dotted line is one second The diagnosis is based on the clinical presentation and on typical electroencephalographic patterns based on time of onset 24 2 Typically onset of seizures and spasms have been indicative of OS diagnosis while MRI and abnormal EEG burst suppression pattern can confirm Genetic testing with chromosomal microarray analysis followed by an epilepsy gene panel or whole exome sequencing may be considered after MRI imaging has been exhausted 25 26 Differential diagnoses between other epileptic encephalopathies such as West syndrome or Lennox Gastaut syndrome are distinguished by myoclonic seizures and differences in spike and wave patterns on EEG 27 Treatment editTreatment outlook is poor Anticonvulsant drugs and glucocorticoid steroids may be used to try to control the seizures but their effectiveness is limited Most therapies are related to symptoms and day to day living 4 For cases related to focal brain lesions epilepsy surgery or functional hemispherectomy may be considered 7 3 28 Risk factors include infection blood loss loss of vision speech memory or movement citation needed Therapy for those with OS are based on severity of seizure activity and are supportive in nature This may include treatment for abnormal muscle tone stomach or lung problems 7 A ketogenic diet may be suggested for reduction of symptoms 2 Should the child survive past the age of three vagus nerve stimulation could be considered 2 No recent findings allude to preventive methods for pregnant mothers citation needed Prognosis editPrognosis is poor for infants with OS and can be characterized by management of seizures effects of secondary symptoms and shortened life span up to 3 years of age Survivors have severe psychomotor impairments and are dependent on their caretaker for support Family members of infants with OS may consult with a palliative care team as symptoms may worsen or develop Death is often due to strain from seizure activity pneumonia or other complications from motor disabilities 8 Prospects of recovering from OS after hemispherectomy surgery has been shown to be favorable with patients experiencing catch up in development 29 Epidemiology editIncidence has been estimated at 1 100 000 births in Japan and 1 50 000 births in the U K 30 Approximately 100 cases total have been reported but this may be an underestimate since OS neonates with early death may escape clinico EEG diagnosis 9 Male cases slightly predominate those of females Current research editCurrently only one clinical trial has been performed to examine the efficacy of high definition HD transcranial direct current stimulation HD tDCS in reducing epileptiform activity 31 Notable cases editIvan Cameron son of David Cameron former leader of the British Conservative Party and Prime Minister of the UK was born with the condition and cerebral palsy He died aged six on 25 February 2009 while his father was still opposition leader 32 Dr William H Thomas a United States doctor has two daughters with this condition He spoke about them during a PBS interview 33 References edit Berg AT Berkovic SF Brodie MJ et al April 2010 Revised terminology and concepts for organization of seizures and epilepsies report of the ILAE Commission on Classification and Terminology 2005 2009 Epilepsia 51 4 676 85 doi 10 1111 j 1528 1167 2010 02522 x PMID 20196795 a b c d e f g h Ohtahara Syndrome Epilepsy Foundation Retrieved 2019 12 13 a b c d OHTAHARA SYNDROME www epilepsydiagnosis org Retrieved 2019 12 13 a b c d National Institute of Neurological Disorders and Stroke 5 December 2008 NINDS Ohtahara Syndrome Information Page Archived from the original on 28 February 2009 Retrieved 2009 03 10 a b Ohtahara S Ishida T Oka E et al 1976 特異な年齢依存性てんかん性脳症the early infantile epileptic encephalopathy with suppression burstに関する研究 On the specific age dependent epileptic syndrome the early infantile epileptic encephalopathy with suppression burst No to Hattatsu in Japanese 8 4 270 80 doi 10 11251 ojjscn1969 8 270 Holmes Gregory L January 2004 Tonic Epilepsy com Professionals Retrieved 2007 11 26 a b c Ohtahara Syndrome Information Page National Institute of Neurological Disorders and Stroke www ninds nih gov Retrieved 2019 12 13 a b RESERVED INSERM US14 ALL RIGHTS Orphanet Early infantile epileptic encephalopathy Ohtahara syndrome www orpha net Retrieved 2019 12 13 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link a b Ohtahara Syndrome Epilepsy Foundation Retrieved 2019 12 13 Nabbout Rima July 2004 Early infantile epileptic encephalopathy PDF Online Mendelian Inheritance in Man OMIM 308350 Kato M Saitoh S Kamei A et al August 2007 A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression Burst Pattern Ohtahara Syndrome Am J Hum Genet 81 2 361 6 doi 10 1086 518903 PMC 1950814 PMID 17668384 Online Mendelian Inheritance in Man OMIM 300203 Online Mendelian Inheritance in Man OMIM 609302 Online Mendelian Inheritance in Man OMIM 602926 Online Mendelian Inheritance in Man OMIM 182810 Online Mendelian Inheritance in Man OMIM 602235 Online Mendelian Inheritance in Man OMIM 300429 Online Mendelian Inheritance in Man OMIM 300460 Online Mendelian Inheritance in Man OMIM 605610 Online Mendelian Inheritance in Man OMIM 182390 Online Mendelian Inheritance in Man OMIM 607120 Online Mendelian Inheritance in Man OMIM 600702 Beal C Cherian K Moshe SL et al 2012 Early Onset Epileptic Encephalopathies Ohtahara Syndrome and Early Myoclonic Encephalopathy Pediatric Neurology 47 5 317 23 doi 10 1016 j pediatrneurol 2012 06 002 PMID 23044011 Early Infantile Epileptic Encephalopathy Centogene 2017 07 20 Retrieved 2019 12 13 CentoPortal www centoportal com Retrieved 2019 12 13 RESERVED INSERM US14 ALL RIGHTS Orphanet Early infantile epileptic encephalopathy www orpha net Retrieved 2019 12 13 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Aaron s Ohtahara Foundation sites google com Retrieved 2019 12 13 Malik Saleem I Galliani Carlos A Hernandez Angel W Donahue David J December 2013 Epilepsy surgery for early infantile epileptic encephalopathy ohtahara syndrome Journal of Child Neurology 28 12 1607 1617 doi 10 1177 0883073812464395 ISSN 1708 8283 PMID 23143728 S2CID 21646215 Maternal mortality ratio in selected countries 2015 2016 10 24 doi 10 1787 eco surveys idn 2016 graph65 en a href Template Cite journal html title Template Cite journal cite journal a Cite journal requires journal help Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures Full Text View ClinicalTrials gov clinicaltrials gov 7 November 2016 Retrieved 2019 12 13 Cameron s beautiful boy dies BBC News Online 25 February 2009 Retrieved 2009 03 10 Nursing Home Alternative PBS 2002 02 27 External links edit Retrieved from https en wikipedia org w index php title Ohtahara syndrome amp oldid 1222019882, wikipedia, wiki, book, books, library,

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