Ohtahara syndrome

Microcephaly

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

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

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

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

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 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

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.

Related Pages

• Epileptic encephalopathy
• Seizure
• Electroencephalogram
• Antiepileptic drugs
• Ketogenic diet
• West syndrome
• Lennox-Gastaut syndrome