Ohtahara syndrome: Difference between revisions
No edit summary |
No edit summary |
||
| Line 9: | Line 9: | ||
{{SI}} | {{SI}} | ||
{{CMG}} | {{CMG}} | ||
{{SK}} Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE) | {{SK}} Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE) | ||
==Overview== | ==Overview== | ||
'''Ohtahara Syndrome''' is the earliest-developing age-related epileptic encephalopathy. 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.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity in an EEG. | '''Ohtahara Syndrome''' is the earliest-developing age-related epileptic encephalopathy. 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.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity in an EEG. | ||
== | ==Pathophysiology== | ||
===Pathology=== | |||
In most cases, there is severe atrophy of both hemispheres of the brain. | |||
==Natural History, Complications and Prognosis== | |||
===Complications=== | |||
* Mental retardation | |||
* Infections | |||
===Prognosis=== | |||
Infants with Ohtahara Syndrome make very little developmental progress. They remain totally dependent on others and often feed poorly. They often die within the first two years of life because of repeated chest infections. Those who do survive will be severely disabled. | |||
==Causes == | |||
No single cause of OS has been identified. Less often, the root of the disorder is an underlying metabolic syndrome. No genetic connection has been established.<ref name = orpha1>{{Citation | last = Nabbout | first = Rima | title = Early infantile epileptic encephalopathy | July | 2004 | url = http://www.orpha.net/data/patho/Pro/en/EarlyInfantileEpilepticEncephalopathy-FRenPro889.pdf}}</ref> | |||
==Diagnosis== | |||
===Symptoms=== | |||
OS is the earliest-appearing age-related epileptic encephalophy, with seizure onset occurring within the first three months (and often first 10 days) of life. Many, but not all, cases of OS evolve into other seizure disorders, namely West Syndrome and Lennox-Gastaut Syndrome.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> | OS is the earliest-appearing age-related epileptic encephalophy, with seizure onset occurring within the first three months (and often first 10 days) of life. Many, but not all, cases of OS evolve into other seizure disorders, namely West Syndrome and Lennox-Gastaut Syndrome.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> | ||
| Line 19: | Line 34: | ||
Clinically, OS is characterized by a “burst suppression” pattern on an electroencephalogram (EEG). This pattern involves high voltage spike wave discharge followed by little brain wave activity.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> | Clinically, OS is characterized by a “burst suppression” pattern on an electroencephalogram (EEG). This pattern involves high voltage spike wave discharge followed by little brain wave activity.<ref name = ninds1>{{Citation | last = National Institute of Neurological Disorders and Stroke | title = NINDS Ohtahara Syndrome Information Page | date = February 14 | year = 2007 | url = http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm}}</ref> | ||
==Treatment== | |||
== | |||
Treatment outlook is poor. Anti-epileptic drugs and 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. | Treatment outlook is poor. Anti-epileptic drugs and 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. | ||
Revision as of 13:48, 6 August 2012
| Ohtahara syndrome | |
| OMIM | 308350 |
|---|---|
| DiseasesDB | 33878 |
|
WikiDoc Resources for Ohtahara syndrome |
|
Articles |
|---|
|
Most recent articles on Ohtahara syndrome Most cited articles on Ohtahara syndrome |
|
Media |
|
Powerpoint slides on Ohtahara syndrome |
|
Evidence Based Medicine |
|
Cochrane Collaboration on Ohtahara syndrome |
|
Clinical Trials |
|
Ongoing Trials on Ohtahara syndrome at Clinical Trials.gov Trial results on Ohtahara syndrome Clinical Trials on Ohtahara syndrome at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Ohtahara syndrome NICE Guidance on Ohtahara syndrome
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Ohtahara syndrome Discussion groups on Ohtahara syndrome Patient Handouts on Ohtahara syndrome Directions to Hospitals Treating Ohtahara syndrome Risk calculators and risk factors for Ohtahara syndrome
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Ohtahara syndrome |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Early Infantile Epileptic Encephalopathy with Burst-Suppression (EIEE)
Overview
Ohtahara Syndrome is the earliest-developing age-related epileptic encephalopathy. 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] The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity in an EEG.
Pathophysiology
Pathology
In most cases, there is severe atrophy of both hemispheres of the brain.
Natural History, Complications and Prognosis
Complications
- Mental retardation
- Infections
Prognosis
Infants with Ohtahara Syndrome make very little developmental progress. They remain totally dependent on others and often feed poorly. They often die within the first two years of life because of repeated chest infections. Those who do survive will be severely disabled.
Causes
No single cause of OS has been identified. Less often, the root of the disorder is an underlying metabolic syndrome. No genetic connection has been established.[2]
Diagnosis
Symptoms
OS is the earliest-appearing age-related epileptic encephalophy, with seizure onset occurring within the first three months (and often first 10 days) of life. 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 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 electroencephalogram (EEG). This pattern involves high voltage spike wave discharge followed by little brain wave activity.[1]
Treatment
Treatment outlook is poor. Anti-epileptic drugs and 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.
- ↑ 1.0 1.1 1.2 National Institute of Neurological Disorders and Stroke (February 14), NINDS Ohtahara Syndrome Information Page Check date values in:
|date=, |year= / |date= mismatch(help) - ↑ Nabbout, Rima, Early infantile epileptic encephalopathy (PDF) Text " 2004 " ignored (help); Text " July " ignored (help)
- ↑ Epilepsy.com Professionals, Tonic, retrieved 2007-11-26 Text " 2007 " ignored (help)