Ohtahara syndrome is a neurological disorder which shows a pattern of burst activity observed on an electroencephalogram. An early onset, extremely debilitating progressive epileptic encephalopathy characterised by tonic spasms, partial seizures and burst activity on electroencephalography management ohtahara syndrome responds poorly to anticonvulsants and steroids prognosis dismal well known patient ivan, son of uk prime minister david. For ohtahara syndrome caused by stxbp1 mutations, a trial of folinic acid is indicated. Ohtahara syndrome os is a rare neurological disorder characterized by onset of seizures within the first three months of life. Onset usually occurs during infancy or early childhood. We recruited a total of 328 patients with eoee, including 67 patients with ohtahara syndrome os and 150 with west syndrome.
Ohtahara syndrome 31 the prognosis is typically grave, including severe psychomotor retardation and high mortality, particularly during the early stages of the disorder. Folinic acidresponsive seizures are treatable causes of ohtahara syndrome, which is thought to be due to recessive mutations in the aldh7a1 gene, resulting in deficiency of antiquitin. The title of this article cannot help but to catch the eye of every practitioner of pediatric epilepsy. Ohtahara syndrome information page national institute of.
Moshe of albert einstein college of medicine received honorariums from ucb as a member of a data and safety monitoring board. Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is frequently associated with brain malformations, such as hemimegalencephaly. Epileptic encephalopathy syndromes in infancy intechopen. Early infantile epileptic encephalopathy genetic and. Some babies may have seizures in the womb during the last three months of pregnancy. Ohtahara syndrome with emphasis on recent genetic discovery. The disorder affects newborns, usually within the first three months of life most often within the first 10 days in the form of epileptic seizures. Many babies have an underlying structural brain abnormality or a metabolic biochemical disorder. Early infantile epileptic encephalopathy ohtahara syndrome was first described in 1976 as the earliest form of the agedependent epileptic encephalopathies. Seizures seizure types frequently include brief tonic seizures stiffening of the body, focal. Clinical spectrum of early onset epileptic encephalopathies caused by. Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. Early infantile epileptic encephalopathy or eiee ohtahara syndrome.
The onset of ohtahara syndrome is often within the first 10 days of life in the form of tonic spasms with a characteristic eeg picture of burst suppression. Eeg testing 9581295822 is usuallyordered to confirm diagnosis of ohtahara syndrome. Ohtahara syndrome definition of ohtahara syndrome by. Os is most commonly caused by metabolic disorders or structural abnormalities in the. Anesthetic experience of a patient with ohtahara syndrome a case. Use features like bookmarks, note taking and highlighting while reading on angel wings. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care. Early infantile epileptic encephalopathy eiee or ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also west syndrome and lennoxgastaut syndrome. The dystonic movements are characterised by abnormal posturing of the head and neck. Ohtahara syndrome symptoms, diagnosis, treatments and. Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies.
Clinical spectrum of scn2a mutations expanding to ohtahara. Ohtahara syndrome in generally considered to be due to a malformation of cortical development or to a primary structural abnormality of the brain 3, 4, 69. It is the earliest form of epileptic encephalopathies. Ohtahara syndrome os is a neurological disorder characterized by seizures. It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific eeg finding of suppressionburst patterns, characterized by highvoltage bursts alternating with almost flat suppression phases. Pontocerebellar hypoplasia type 1 is a very rare form of infantile spinal atrophy which has been known to be associated with seizures, however, this is the first report of early infantile epileptic encephalopathy ohtahara syndrome with tonic seizures, which is an important association to recognize. Pdf ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. Folinic acid responsive epilepsy in ohtahara syndrome. The international league against epilepsy ilae diagnostic manuals goal is to assist clinicians who look after people with epilepsy to diagnose the epilepsy syndrome and if possible the etiology of the epilepsy. The disorder affects infants, usually within the first three months of life most often within the first 10 days in the form of epileptic seizures. Sandifer syndrome genetic and rare diseases information. Some babies have as many as 100 of these seizures every day. Infants primarily have tonic seizures, but may also experience partial seizures also called focal seizures, or myoclonic seizures.
Folinic acid responsive epilepsy in ohtahara syndrome pdf. The ohtahara syndrome conference and family gathering information page. Ohtahara syndrome is also called early infantile epileptic encephalopathy eiee. Ohtaharasyndromeinformationpage national institute of. He had cerebral palsy and a very rare form of epilepsy, called ohtahara syndrome. The syndrome is outwardly characterized by tonic spasms. Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastrooesophageal reflux, and, in some cases, hiatal hernia. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays. Early infantile epileptic encephalopathy eiee is a neurological disorder characterized by seizures.
Seven of the 11 infants have remained seizure free engel class ia and four are reportedly having. Ohtahara syndrome which is one of the severe epileptic encephalopathy pictures observed in newborns was defined in 1976 for the first time. Scn2a mutations were examined using high resolution melt analysis or whole exome sequencing. Therefore, you can use codes for other and illdefined conditions originating in the perinatal period. A complex malformation syndrome referred to as aicardi syndrome 6, 10 and hemimegalencephaly 11 seem to be the two main types of malformations that exhibit eiee.
One of the boys was diagnosed with an early infantile epileptic encephalopathy also known as ohtahara syndrome, whereas his cousin had. Ohtahara syndrome is a progressive disorder, meaning that seizures become more frequent and severe. Ohtahara syndrome ohtahara syndrome is a very rare epilepsy syndrome. It is characterised by seizures which start in the first days of life. Diagnosis and management of epileptic encephalopathies in.
Basic science studies contnue to investigate how alteration of these pathways in brain cells change nerve firing and contribute to seizures and abnormal development. Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. Ohtahara syndrome, also known as early infantile epileptic encephalopathy with burstsuppression, is a progressive epileptic encephalopathy. Clinical spectrum of early onset epileptic encephalopathies caused by kcnq2 mutation. Individuals with ohtahara syndrome often have mental retardation or other developmental impairments. Epileptic encephalopathies including severe epilepsy.
Mikati, in swaimans pediatric neurology sixth edition, 2017. Haploinsufficiency of stxbp1 and ohtahara syndrome. In 2006, ohtahara and yamatogi highlighted the differences between the syndromes, indicating that they were separate and distinguishable diseases. Pontocerebellar hypoplasia type 1 with ohtahara syndrome. Early infantile epileptic encephalopathy ohtahara syndrome. Brain malformations or metabolic disorders are often associated with os, but other cases remain etiologically unexplained. Ohtahara syndrome affects the new born babies and the children of 3 4 months of age, but most of the times, the babies of 10 days of age are the victims. Insights into the barriers and adaptations to successfully exercise with epilepsy. Cherian of albert einstein college of medicine has no relevant financial relationships to disclose. Early infantile epileptic encephalopathy eiee or ohtahara syndrome is the earliest form of age.
A case of ohtahara syndrome with olivarydentate dysplasia. Aarons ohtahara is a 501 c 3 non profit organization. The mean age at the time of onset of seizures was 8 days. Beal of albert einstein college of medicine has no relevant financial relationships to disclose. The rs11872992 polymorphism influences acth treatment responses in patients with infantile. Download it once and read it on your kindle device, pc, phones or tablets. How often is antiseizure drug free ketogenic diet therapy achieved. It contains words clinical, spectrum, scn2a that imply improved understanding and hopefully treatment of ohtahara syndrome os, a severe pediatric epilepsy syndrome of infancy. The disorder affects newborns, usually within the first three months of life most often within the first 10 days in the. Epileptic syndromes of the newborn and infant ivan lived with cerebral palsy and a rare and severe form of epilepsy known as ohtahara syndrome. Folinic acid responsive epilepsy in ohtahara syndrome caused by stxbp1 mutation. Information and translations of ohtahara syndrome in the most comprehensive dictionary definitions resource on the web. Structural brain anomalies, inborn errors of metabolism, genetic abnormalities, and unknown factors are involved in the pathogenesis of ohtahara syndrome.
Several syndromes have been described based on their electroclinical features age. Ohtahara syndrome is a neurological disorder characterized by seizures. Epileptic encephalopathies refer to a group of disorders in which the unremitting epileptic activity contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone, and these can worsen over time leading to progressive cerebral dysfunction. Ohtahara syndrome also known as early infantile epileptic encephalopathy, eiee is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Recently, longer expansion of the first polyalanine tract of arx was found to be causative for ohtahara syndrome without brain malformation, whereas premature termination mutations of arx were found to cause severe brain. Epilepsy syndromes during the first year of life and the. Seizures often develop within the first ten days of life and usually before three months old.
Ohtahara syndrome is either inherited or may develop around the time of birth, possibly as a result of brain damage. The seizures often change to wests syndrome ws or lennox gaustaut syn drome lgs pattern. This may be genetic in origin passed on through the genes, or happen because of brain damage before or around the time of birth. In ohtahara syndrome, the patients have underdeveloped parts of brain particularly cerebral hemispheres. We observed ten cases of this syndrome during a period of 12 months. Genes associated with ohtahara syndrome involve multiple pathways including gene regulation, mitochondrial function, and synaptic transmission communication between nerve cells. We aimed to investigate the possible association between scn2a mutations and earlyonset epileptic encephalopathies eoees. Ohtahara syndrome is primarily a seizure disorder found in newborns. Ohtahara syndrome is heterogeneous in nature, meaning that it can be caused by many circumstances whether it is a gene mutation, structural malformation, or to this day still unknown which many of the families fall into this category. Successful treatment of ohtahara syndrome with chloral. Ohtahara syndrome an overview sciencedirect topics. This rare syndrome is characterized by a very early onset, during the first months of life, with frequent tonic.
Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by ohtahara et al. They are typically distinguished from each other according to specific clinical and etiologic criteria. Specifically, they pointed out the prevalence of structural abnormalities in ohtahara syndrome vs metabolic disease in early myoclonic encephalopathy, and emphasized that the suppression burst pattern is present equally in wakefulness and sleep in. Ohtahara syndrome in a family with an arx protein truncation. Ohtahara syndrome conference and family gathering home.
Ohtahara syndrome os is one of the most severe and earliest forms of epilepsy. Ohtahara syndrome os is a rare epileptic encephalopathy that is. Nevertheless, all patients in the second group were physically and mentally severely handicapped 14. Frameshift mutations of the arx gene in familial ohtahara. Pdf ohtahara syndrome and early myoclonic encephalopathy are the earliest. At times, intrauterine onset with increased fetal movements is suspected with onset delayed up to 3 months in some cases. Genedx 207 perry parkway gaithersburg, md 20877 toll free. The disorder affects newborns, usually within the first three months of life. The rs11872992 polymorphism influences acth treatment responses in. In addition to ohtahara syndrome, stxbp1 mutations are associated with west syndrome, and learning disabilities. While cerebral palsy is quite common, affecting one in 400 babies to a.
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