Article pdf available in european journal of human genetics 182. It provides evidence that surgical intervention might provide promising results in selected cases, and that young age is not a contraindication for this type of surgery. Syrbe s, zhorov bs, bertsche a, bernhard mk, hornemann f, mutze u, hoffmann j, hortnagel k, kiess w, hirsch fw, lemke jr, merkenschlager a. As they grow, babies with this type of encephalopathy cannot learn to walk, talk, see, and interact with others. The locations of the mutations are illustrated in a membrane chan. Munc181 haploinsufficiency impairs learning and memory by. Aarons ohtahara genetic and rare diseases information. Early infantile epileptic encephalopathy eiee or ohtahara syndrome is the earliest form of age. Ohtahara syndrome information page national institute of. The epilepsy therapy project and epilepsy foundation decide to merge our personal stories and reflections. Ohtahara syndrome is also called early infantile epileptic encephalopathy eiee. In 2002 we described an individual with ohtahara syndrome whose seizures responded promptly to chloral hydrate treatment.
All four affected children in families 1 and 2 also. Biallelic dmxl2 mutations impair autophagy and cause ohtahara syndrome with. It contains words clinical, spectrum, scn2a that imply improved understanding and hopefully treatment of ohtahara syndrome os, a severe pediatric epilepsy syndrome of infancy. Epygenix identified the potential to use the drug to treat dravet syndrome by screening 3,000 approved drugs in genetically modified zebrafish, a species that shares many targets and pathways with humans and provides a faster, cheaper route to clinical trials than rodents. Early infantile epileptic encephalopathy eiee, also called ohtahara syndrome, is a rare disorder characterized by infantile spasms. He ohtahara syndrome os is a type of epilepsy characterized by spasms, epileptic seizures resistant to therapeutic approaches, and severe psychomotor retardation ortegamoreno et al. The rs11872992 polymorphism influences acth treatment responses in patients with infantile spasms liu zl, 2007. Ohtahara syndrome ohtahara syndrome is a very rare epilepsy syndrome. Ohtahara syndrome with biotinidase deficiency pratibha singhi. A rare variety of photosensitive epilepsy, sunflower syndrome more commonly occurs in girls between three and ten years old. Folinic acid responsive seizures are identical to pyridoxinedependent epilepsy, and both are caused by aaasa dehydrogenase deficiency with mutations in the aldh7a1 antiquitin gene 2.
Cerebral palsy and ohtahara syndrome health the guardian. The eeg course of sb in os is that they turn into hypsarrhythmia in 36 months. Ohtahara syndrome os, also known as early infantile epileptic encephalopathy with burstsuppression eiee, is a progressive epileptic encephalopathy. Proteus syndrome associated with hemimegalencephaly and ohtahara syndrome. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures. Posts about ohtahara syndrome written by ingo helbig. It manifests itself by early infantile onset, intractable seizures, suppression bursts in awake or sleeping state electroencephalography eeg, severe psychomotor retardation and poor prognosis. Aarons ohtahara is a 501 c 3 non profit organization. For ohtahara syndrome caused by stxbp1 mutations, a trial of folinic acid is indicated. Early infantile epileptic encephalopathy genetic and. Seizures often develop within the first ten days of life and usually before three months old. One patient was diagnosed with west syndrome at disease onset, while the initial phenotype of 5 further patients did not fit into a specific recognized epilepsy syndrome. Threeyearold callum suffers from ohtahara syndrome a rare epilepsy condition and was referred to ty hafan in 20. Cask aberrations in male patients with ohtahara syndrome.
Mar 27, 2019 ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays. Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays. The week before christmas, the kiel group identified its first patient with scn2a encephalopathy. The syndrome is characterized by tonic spasms, focal seizures, a specific pattern of suppression bursts in eeg, and poor prognosis. The outline of os, mainly in relation to the evolution with age, and differentiation from related conditions, particularly early myoclonic encephalopathy eme were mentioned. Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by ohtahara et al. Ohtahara syndrome presents in early infancy, within the first 3 months of age. Ohtahara syndrome os, also known as early infantile epileptic encephalopathy eiee is a progressive epileptic encephalopathy. Early infantile epileptic encephalopathy is a severe form of epilepsy first.
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. 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. Aaron and two females are the patients represented in this report. With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy, epilepsy research on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Cask aberrations in male patients with ohtahara syndrome and cerebellar hypoplasia. Ivan cameron suffered from birth from two neurological conditions both caused by malformation of the developing brain. Ohtahara syndrome is a neurological disorder characterized by seizures. If you have problems viewing pdf files, download the latest version of adobe reader. Some babies may have seizures in the womb during the last three months of pregnancy. Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. In addition to ohtahara syndrome, stxbp1 mutations are associated with west syndrome, and learning disabilities. Phenotypic variability from benign infantile epilepsy to ohtahara syndrome associated with a novel mutation in scn2a.
Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Dec 20, 2019 a number sign is used with this entry because early infantile epileptic encephalopathy1 eiee1also known as xlinked infantile spasm syndrome 1 issx1is caused by mutation in the aristalessrelated homeobox gene arx. The altered brain structure of this syndrome interferes with a babys ability to learn how to use their muscles. Clinical spectrum of earlyonset epileptic encephalopathies. The onset of ohtahara syndrome is often within the first 10 days of life in the form. This term denotes the concept that the epileptic activity itself might directly contribute additional cognitive and behavioral impairments over those expected from the underlying etiology alone, and that suppression of epileptic activity might minimize this additional impairment. They are typically distinguished from each other according to specific clinical and etiologic criteria. Clinical spectrum of scn2a mutations expanding to ohtahara. 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. Folinic acid responsive epilepsy in ohtahara syndrome. It is characterised by seizures which start in the first days of life. Ohtahara syndrome symptoms, diagnosis, treatments and.
Ohtahara syndrome os is well known as a peculiar early onset epileptic syndrome with serious prognosis. Oct 01, 2003 anaesthesia in an adolescent with ohtahara syndrome ohtahara syndrome is an early. Piggybacked onto major advances in neurophysiology and neuroimaging, the current nomenclature of. 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. The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram eeg. The syndromic classification of epileptic seizures has been evolving for more than a quarter century. Summarythis report illustrates the usefulness and safety of very early hemispherotomy in an infant with ohtahara syndrome os secondary to left parietooccipital megalencephaly. Download it once and read it on your kindle device, pc, phones or tablets. It is paid attention as the youngest form in the frame of the agedependent epileptic encephalopathy ohtahara, 1977, ohtahara. Ohtahara syndrome is an early infantile epileptic encephalopathy characterized by frequent tonic.
For language access assistance, contact the ncats public information officer. It is characterised by severe physical and mental retardation and partial seizures. Ohtahara syndrome is the earliest form of the age dependant neonatal epileptic encephalopathies and was first described by dr. Arriving at the correct epilepsy syndrome andor etiology allows better decisionmaking about treatment and improves patient care.
Ohtahara syndrome is a progressive disorder, meaning that seizures become more frequent and severe. Ohtahara syndrome is 1 of the earliest developing forms of epileptic encephalopathy. Taking a patientfirst, precision medicine approach to orphan. Yet implementation of a precision medicine paradigm in the nursery entails early recognition of genetic epilepsy and treatment based on etiology.
Ohtahara syndrome is the earliest form of the age dependant neonatal epileptic. Whole exome sequencing identifies kcnq2 mutations in ohtahara syndrome hirotomo saitsu md, phd. Ohtahara syndrome is either inherited or may develop around the time of birth, possibly as a result of brain damage. About a third of patients progress to the next epileptic encephalopathy. Kcnq2 mutation explains the etiology of chloral hydrate. A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. My eyes scan for something understandable and find that mutations were found in approximately % of patients with os, 0. Epileptic syndromes in paediatrics free download as powerpoint presentation. The disorder affects newborns, usually within the first three months of life. None of the mutationcarrying patients had ohtahara syndrome. Early myoclonic epilepsy and early infantile epileptic encephalopathy or ohtahara syndrome constitute the earliest presenting of the agedependent epileptic.
Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. Ohtahara syndrome early infantile epileptic encephalopathy article pdf available in medicinski pregled 611112. Seizures seizure types frequently include brief tonic seizures stiffening of the body, focal. Epileptic syndromes in paediatrics epilepsy disorders. Ohtahara syndrome symptoms, diagnosis, treatments and causes. Article information, pdf download for ohtahara syndrome with biotinidase. Epilepsy awareness, ohtahara syndrome, os, infantile spasms. A clinical guide to epileptic syndromes and their treatment.
This is a pdf file of an unedited manuscript that has been accepted for publication. He had cerebral palsy and a very rare form of epilepsy, called ohtahara syndrome. At times, intrauterine onset with increased fetal movements is suspected with onset delayed up to 3 months in some cases. Early infantile epileptic encephalopathy eiee is a neurological disorder characterized by seizures.
Ohtahara syndrome is a neurological disorder which shows a pattern of burst activity observed on an electroencephalogram. The title of this article cannot help but to catch the eye of every practitioner of pediatric epilepsy. This is a paper presentation for ohtahara syndrome and emphasizes early surgery. Pdf ohtahara syndrome in a family with an arx protein truncation. Epileptic encephalopathies including severe epilepsy. Ohtahara syndrome and early myoclonic encephalopathy are the earliest. Ohtahara syndrome national institute of neurological. This group of disorders includes early infantile epileptic encephalopathy also known as ohtahara syndrome, early myoclonic encephalopathy. In brief, all patients exhibited a remarkably similar phenotype that, in addition to the ohtahara syndrome starting in the first days of life, included profound developmental delay, muscular hypotonia, quadriparesis, sensorineural hearing loss and dysmorphic features supplementary fig.
Individuals with ohtahara syndrome often have mental retardation or other developmental impairments. Anaesthesia in an adolescent with ohtahara syndrome. An epileptic encephalopathy similar to ohtahara syndrome, attributable to mutationsin the kcnq gene that. In ohtahara syndrome, the patients have underdeveloped parts of brain particularly cerebral hemispheres. Ohtahara syndrome is a severe type of encephalopathy. Note ohtahara syndrome is considered an epileptic encephalopathy. Mikati, in swaimans pediatric neurology sixth edition, 2017. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. As a service to our customers we are providing this. Folinic acid responsive epilepsy in ohtahara syndrome caused by stxbp1 mutation. Early infantile epileptic encephalopathy eiee or ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also west syndrome and lennoxgastaut syndrome. Some babies have as many as 100 of these seizures every day. Covid19 is an emerging, rapidly evolving situation.
Learn more online at the epilepsy foundation website. In 2006, ohtahara and yamatogi highlighted the differences between the syndromes, indicating that they were separate and distinguishable diseases. 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. The suppressionburst pattern sb is a unique eeg pattern in which bursts of high voltage paroxysmal activity and nearflat suppression appear alternately, and likely represents disconnection of the cortex from subcortical structures. Ohtahara syndrome os is a specific epileptic syndrome with onset mainly in neonatal period and has many clinicoelectrical characteristics, among which age dependency and evolutional change is specific ohtahara et al. Ohtahara syndrome usually uncountable, plural ohtahara syndromes neurology, pathology a progressive condition with a combination of severe epilepsy and cerebral palsy. Folinic acid responsive epilepsy in ohtahara syndrome pdf. 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. This rare syndrome is characterized by a very early onset, during the first months of life, with frequent tonic. Genes associated with ohtahara syndrome involve multiple pathways including. This rare epilepsy is more common in girls, starts at 310 years old, and usually has absence and myoclonic seizures.
Ohtahara syndrome is a rare epileptic encephalopathy in infants. Survivors suffer from severe mental and physical impairment. Developmental epilepsies are agedependent pediatric seizure disorders that include early myoclonic encephalopathy,1, 2 ohtahara syndrome,3, 4 malignant migrating partial seizures of infancy, 5 infantile spasms, 6 and lennoxgastaut syndrome. The lead candidate, epx100, is a firstgeneration antihistamine with a long history of safe use.
Ohtahara syndrome definition of ohtahara syndrome by. The epilepsy foundation is the voice of people with epilepsy and their families stronger together. Sunflower syndrome photosensitive epilepsy epilepsy. Use features like bookmarks, note taking and highlighting while reading on angel wings.
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. Biallelic dmxl2 mutations impair autophagy and cause ohtahara. What is early infantile epileptic encephalopathy eiee. Rugby star leigh pays visit to hospice and the prime ministers first child, ivan, was born with ohtahara syndrome, a rare form of cerebral palsy and epilepsy. Eme transition to west syndrome is transient, if there is any transition at all.
It has an early onset and symptoms generally occur before the. Disease definition a severe form of agerelated epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death. Epileptic encephalopathy syndromes in infancy intechopen. In cases of early myoclonic encephalopathy associated with non ketotic hyperglycinemia, treatment with sodium benzoate, ketamine, and dextromethorphan has. 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. Ohtahara syndrome, also known as type 4 of early infantile epileptic encephalopathy with suppression bursts eiee4 is currently an untreatable disorder that presents with seizures and impaired cognition. Ohtahara syndrome presents in early infancy, within the first 3 months of age, and often within the first 2 weeks 8.
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