- Ohtahara syndrome
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Ohtahara syndrome Classification and external resources ICD-10 G40.4 OMIM 308350 DiseasesDB 33878 Ohtahara syndrome (OS), also known as Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, 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 mental retardation. No single cause has been identified, although in many cases structural brain damage is present.[1]
Contents
Characteristics
Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalophy, with seizure onset occurring within the first three months of life, and often in the first ten days.[2] Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome.[1]
The primary outward manifestation of OS is seizures, usually presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs).[3] Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental and physical retardation.
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.[1]
Causes and treatment
No single cause of OS has been identified. In most cases, there is severe atrophy of both hemispheres of the brain. Less often, the root of the disorder is an underlying metabolic syndrome. No genetic connection has been established.[4]
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.[1]
When the cause of the seizures is a malformation of either the left or right hemisphere of the brain then a surgical procedure, a functional hemispherectomy, can significantly improve the developmental outcome of the child and even completely stop the seizures.[5]
It can be associated with ARX.[6][7]
Notable sufferers
- Ivan Cameron, son of David Cameron, leader of the British Conservative Party and Prime Minister of the UK, was born with the condition. He died aged six on 25 February 2009, while his father was still opposition leader.[8]
References
- ^ a b c d National Institute of Neurological Disorders and Stroke (5 December 2008). "NINDS Ohtahara Syndrome Information Page". http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm. Retrieved 2009-03-10.
- ^ Ohtahara S, Ishida T, Oka E et al. (1976). "[On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst]" (in Japanese). No to Hattatsu 8: 270–9.
- ^ Holmes, Gregory L. (January 2004). "Tonic". Epilepsy.com/Professionals. http://professionals.epilepsy.com/page/generalized_tonic.html. Retrieved 2007-11-26.
- ^ Nabbout, Rima (July 2004). "Early infantile epileptic encephalopathy" (PDF). http://www.orpha.net/data/patho/Pro/en/EarlyInfantileEpilepticEncephalopathy-FRenPro889.pdf.
- ^ McDonald, Daniel. "Aarons Ohatahara". http://ohtahara.org.
- ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61200-2.
- ^ "Cameron's 'beautiful boy' dies". BBC News Online. 25 February 2009. http://news.bbc.co.uk/1/hi/uk_politics/7909562.stm. Retrieved 2009-03-10.
External links
- Ohtahara syndrome information from Epilepsy Action
- Aarons Ohtahara, an organization dedicated to helping families with children diagnosed with Ohtahara Syndrome. from Aarons Ohtahara
Seizures and epilepsy (G40–G41, 345) Basics Seizure types · Seizure trigger · Breakthrough seizure · Postictal state · Epileptogenesis · Seizure prediction · Aura (warning sign)Treatments Antiepileptics · Template:Anticonvulsants (for list) · Electroencephalography (diagnosis method) · EpileptologistRelated disorders Epilepsy organizations Epilepsy Foundation (USA) · International Dravet Epilepsy Action League · Epilepsy Toronto · Epilepsy Research UK · Epilepsy Action Australia · Citizens United for Research in Epilepsy · Epilepsy Action · Epilepsy SocietyIssues for epileptics Seizure types
Epilepsy typesPartial/focal Seizures: Simple partial · Complex partial · Jacksonian seizure
Epilepsy: Temporal lobe epilepsy · Frontal lobe epilepsy · Rolandic epilepsy · Nocturnal epilepsyGeneralised Tonic-clonic · Absence seizure · Atonic seizure · Automatism · Benign familial neonatal · Lennox-Gastaut · WestStatus epilepticus Myoclonic epilepsy Non-epileptic seizures Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies (1) Basic domains 1.2: Feingold syndrome · Saethre-Chotzen syndrome
1.3: Tietz syndrome(2) Zinc finger
DNA-binding domains2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1(3) Helix-turn-helix domains 3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)(4) β-Scaffold factors
with minor groove contacts4.2: Hyperimmunoglobulin E syndrome
4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis(0) Other transcription factors 0.6: Kabuki syndromeUngrouped Transcription coregulators see also transcription factors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Neurological disorders
- Syndromes
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