Ohtahara syndrome: Difference between revisions
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[[File:Microcephaly.png|Microcephaly| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Ohtahara syndrome | |||
| image = [[File:Microcephaly.png|alt=Microcephaly]] | |||
| caption = Microcephaly is a common feature in Ohtahara syndrome | |||
| field = [[Neurology]] | |||
| symptoms = [[Seizures]], [[developmental delay]], [[microcephaly]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic mutation]], [[brain malformation]] | |||
| risks = [[Family history]] of [[epilepsy]] | |||
| diagnosis = [[Electroencephalography|EEG]], [[MRI]] | |||
| differential = [[West syndrome]], [[Lennox-Gastaut syndrome]] | |||
| treatment = [[Anticonvulsant|Anticonvulsants]], [[ketogenic diet]] | |||
| prognosis = [[Poor prognosis]] | |||
| frequency = Rare | |||
}} | |||
'''Ohtahara syndrome''' is a rare and severe form of [[epileptic encephalopathy]] that typically presents in the neonatal period or early infancy. It is characterized by frequent [[seizures]] and a distinctive pattern on an [[electroencephalogram]] (EEG) known as a "burst-suppression" pattern. The syndrome is named after the Japanese neurologist [[Yukio Ohtahara]], who first described it. | |||
== Clinical Features == | == Clinical Features == | ||
Ohtahara syndrome is marked by the early onset of seizures, often within the first few weeks of life. The seizures can be of various types, including [[tonic seizures]], [[myoclonic seizures]], and [[partial seizures]]. These seizures are usually resistant to standard [[antiepileptic drugs]]. | Ohtahara syndrome is marked by the early onset of seizures, often within the first few weeks of life. The seizures can be of various types, including [[tonic seizures]], [[myoclonic seizures]], and [[partial seizures]]. These seizures are usually resistant to standard [[antiepileptic drugs]]. | ||
=== Burst-Suppression Pattern === | === Burst-Suppression Pattern === | ||
The burst-suppression pattern seen on EEG is a hallmark of Ohtahara syndrome. This pattern consists of high-voltage bursts of electrical activity alternating with periods of little to no activity (suppression). This pattern is not unique to Ohtahara syndrome and can be seen in other severe encephalopathies. | The burst-suppression pattern seen on EEG is a hallmark of Ohtahara syndrome. This pattern consists of high-voltage bursts of electrical activity alternating with periods of little to no activity (suppression). This pattern is not unique to Ohtahara syndrome and can be seen in other severe encephalopathies. | ||
== Etiology == | == Etiology == | ||
The causes of Ohtahara syndrome are diverse and can include structural brain abnormalities, metabolic disorders, and genetic mutations. Some of the known genetic causes include mutations in the [[STXBP1]] and [[KCNQ2]] genes. However, in many cases, the exact cause remains unknown. | The causes of Ohtahara syndrome are diverse and can include structural brain abnormalities, metabolic disorders, and genetic mutations. Some of the known genetic causes include mutations in the [[STXBP1]] and [[KCNQ2]] genes. However, in many cases, the exact cause remains unknown. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Ohtahara syndrome is based on the clinical presentation, EEG findings, and neuroimaging studies. [[Magnetic resonance imaging]] (MRI) of the brain may reveal structural abnormalities that could be contributing to the condition. Genetic testing may also be performed to identify any underlying genetic mutations. | The diagnosis of Ohtahara syndrome is based on the clinical presentation, EEG findings, and neuroimaging studies. [[Magnetic resonance imaging]] (MRI) of the brain may reveal structural abnormalities that could be contributing to the condition. Genetic testing may also be performed to identify any underlying genetic mutations. | ||
== Treatment == | == Treatment == | ||
Treatment options for Ohtahara syndrome are limited and often ineffective. [[Antiepileptic drugs]] are typically used, but seizures are usually refractory. In some cases, a [[ketogenic diet]] or surgical interventions such as [[hemispherectomy]] may be considered. The prognosis for children with Ohtahara syndrome is generally poor, with many experiencing severe developmental delays and a high risk of early mortality. | Treatment options for Ohtahara syndrome are limited and often ineffective. [[Antiepileptic drugs]] are typically used, but seizures are usually refractory. In some cases, a [[ketogenic diet]] or surgical interventions such as [[hemispherectomy]] may be considered. The prognosis for children with Ohtahara syndrome is generally poor, with many experiencing severe developmental delays and a high risk of early mortality. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Ohtahara syndrome is generally poor. Most children with this condition have significant developmental delays and intellectual disabilities. The syndrome often evolves into other forms of epilepsy, such as [[West syndrome]] or [[Lennox-Gastaut syndrome]]. | The prognosis for individuals with Ohtahara syndrome is generally poor. Most children with this condition have significant developmental delays and intellectual disabilities. The syndrome often evolves into other forms of epilepsy, such as [[West syndrome]] or [[Lennox-Gastaut syndrome]]. | ||
== See Also == | |||
== | |||
* [[Epileptic encephalopathy]] | * [[Epileptic encephalopathy]] | ||
* [[Seizure]] | * [[Seizure]] | ||
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* [[West syndrome]] | * [[West syndrome]] | ||
* [[Lennox-Gastaut syndrome]] | * [[Lennox-Gastaut syndrome]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{Commons category|Ohtahara syndrome}} | {{Commons category|Ohtahara syndrome}} | ||
[[Category:Epilepsy types]] | [[Category:Epilepsy types]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 05:03, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Ohtahara syndrome | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Seizures, developmental delay, microcephaly |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic mutation, brain malformation |
| Risks | Family history of epilepsy |
| Diagnosis | EEG, MRI |
| Differential diagnosis | West syndrome, Lennox-Gastaut syndrome |
| Prevention | N/A |
| Treatment | Anticonvulsants, ketogenic diet |
| Medication | N/A |
| Prognosis | Poor prognosis |
| Frequency | Rare |
| Deaths | N/A |
Ohtahara syndrome is a rare and severe form of epileptic encephalopathy that typically presents in the neonatal period or early infancy. It is characterized by frequent seizures and a distinctive pattern on an electroencephalogram (EEG) known as a "burst-suppression" pattern. The syndrome is named after the Japanese neurologist Yukio Ohtahara, who first described it.
Clinical Features[edit]
Ohtahara syndrome is marked by the early onset of seizures, often within the first few weeks of life. The seizures can be of various types, including tonic seizures, myoclonic seizures, and partial seizures. These seizures are usually resistant to standard antiepileptic drugs.
Burst-Suppression Pattern[edit]
The burst-suppression pattern seen on EEG is a hallmark of Ohtahara syndrome. This pattern consists of high-voltage bursts of electrical activity alternating with periods of little to no activity (suppression). This pattern is not unique to Ohtahara syndrome and can be seen in other severe encephalopathies.
Etiology[edit]
The causes of Ohtahara syndrome are diverse and can include structural brain abnormalities, metabolic disorders, and genetic mutations. Some of the known genetic causes include mutations in the STXBP1 and KCNQ2 genes. However, in many cases, the exact cause remains unknown.
Diagnosis[edit]
The diagnosis of Ohtahara syndrome is based on the clinical presentation, EEG findings, and neuroimaging studies. Magnetic resonance imaging (MRI) of the brain may reveal structural abnormalities that could be contributing to the condition. Genetic testing may also be performed to identify any underlying genetic mutations.
Treatment[edit]
Treatment options for Ohtahara syndrome are limited and often ineffective. Antiepileptic drugs are typically used, but seizures are usually refractory. In some cases, a ketogenic diet or surgical interventions such as hemispherectomy may be considered. The prognosis for children with Ohtahara syndrome is generally poor, with many experiencing severe developmental delays and a high risk of early mortality.
Prognosis[edit]
The prognosis for individuals with Ohtahara syndrome is generally poor. Most children with this condition have significant developmental delays and intellectual disabilities. The syndrome often evolves into other forms of epilepsy, such as West syndrome or Lennox-Gastaut syndrome.
See Also[edit]
- Epileptic encephalopathy
- Seizure
- Electroencephalogram
- Antiepileptic drugs
- Ketogenic diet
- West syndrome
- Lennox-Gastaut syndrome
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
