We report a case of 5-month-old girl with Ohtahara syndrome with hemimegalencephaly who presented with refractory seizures and ictal FDG PET/CT helped in localizing the seizure focus. [ncbi.nlm.nih.gov]

AB - Dravet Syndrome (SMEI) is an idiopathic generalized epileptic syndrome presenting with heterogeneous phenotypes. [moh-it.pure.elsevier.com]

Abnormal neurological behavior may be present prior to onset of seizures. Severe developmental delay is seen, with or without regression. Children with this syndrome may evolve to have West or Lennox Gastaut syndrome. [epilepsydiagnosis.org]

• Global Developmental Delay

  Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. [ncbi.nlm.nih.gov]

  He started having tonic seizures from 4 months of age, with global developmental delay. On examination, there were no neurocutaneous markers, facial dysmorphism, or focal neurologic deficits. [n.neurology.org]

  Gene GNAO1 Inheritance Pattern Autosomal dominant Position Chr16:56370711 Transcript NM_020988 DNA Change c.662C>A Protein Change p.A221D Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). [undiagnosed.hms.harvard.edu]

  Results: In all 6 patients, global developmental delay and hypotonia were present from infancy, with onset of chorea around age 3-4 years. None had a history of seizures. [mdsabstracts.org]

  She had severe global developmental delay from birth, and regression was not apparent with seizure onset. She walked at 2 years, never talked and remained incontinent. She was institutionalized at 4 years and never attended school. [dx.doi.org]

• Dystonia

  The participant, a 15 year old female with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) was found to carry the following genetic change in the GNAO1 gene: c.662C [undiagnosed.hms.harvard.edu]

  Patient 3 initially showed bradykinesia, rigidity and dystonia; patient 1 resting tremor. All had been diagnosed with dyskinetic Cerebral Palsy (CP), without substantive MRI findings. [jnnp.bmj.com]

  Two of their patients had additional movement disorders including dystonia and chorea and athetosis. [epilepsygenetics.net]

  Wohlrab G, Uyanik G, Gross C, Hehr U, Winkler J, Schmitt B, Boltshauser E (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. [ncbi.nlm.nih.gov]

• Burst Suppression

  (E) EEG shows typical burst-suppression pattern (time base: 20 mm/s, gain: 10 μV/mm, high-frequency filter: 70 Hz, low-frequency filter: 1 Hz). [n.neurology.org]

  From Wikidata Jump to navigation Jump to search neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures Early Infantile Epileptic Encephalopathy Early Infantile Epileptic Encephalopathy with Burst-Suppression [wikidata.org]

  Other names for Ohtahara syndrome • Early infantile epileptic encephalopathy (EIEE) with burst-suppression Symptoms Seizures usually start in the first 7 to 10 days of life. [epilepsy.org.uk]

  This pattern is called “burst suppression.” In burst suppression, there are periods of high-voltage abnormal brain activity (bursts) that alternate with periods of very little brain activity (suppression). [childneurologyfoundation.org]

  A diagnosis of Ohtahara syndrome is based on assessment of symptoms and an abnormal EEG that shows a burst-suppression pattern. How is Ohtahara syndrome treated? Currently there is no cure for Ohtahara syndrome. [ambitcare.com]

• Hypsarrhythmia

  The EEG demonstrates a suppression-burst pattern during waking and sleeping states that often evolves into hypsarrhythmia and followed later by a diffuse slow spike-wave pattern. [ncbi.nlm.nih.gov]

  The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. Brain Dev. 1999;21(2):129-31.Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S. [malattierare.regione.veneto.it]

• Hypsarrhythmia

  The EEG demonstrates a suppression-burst pattern during waking and sleeping states that often evolves into hypsarrhythmia and followed later by a diffuse slow spike-wave pattern. [ncbi.nlm.nih.gov]

  The origin of hypsarrhythmia and tonic spasms in West syndrome: evidence from a case of porencephaly and hydrocephalus with focal hypsarrhythmia. Brain Dev. 1999;21(2):129-31.Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S. [malattierare.regione.veneto.it]

• Generalized Polyspikes

  […] slowing MRI-normal C-VI-7 16 yrs 9 mths 10 yrs GTCS, abs, MJ, FS 9 mths Mild – 6 yrs: generalized slowing 15 yrs: generalized polyspike wave MRI-normal C-VI-8 12 yrs 6 mths 2.5 yrs GTCS, FS Nil Borderline – – MRI-normal C-VI-10 2.5 yrs 18 mths Continuing [dx.doi.org]

TREATMENT AND THERAPIES Several treatments can be used to treat OS. The treatments are focused on controlling the seizures caused by OS. Antiseizure medication Seizures in OS are usually drug resistant. [childneurologyfoundation.org]

Read More Read Less Treatment Treatment Antiseizure drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. [ninds.nih.gov]

Treatment Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful. [brainfacts.org]

We conclude that chloral hydrate could be useful in the treatment of severe epileptic encephalopathies. Possible indications of the drug for intractable epilepsy treatment are discussed. [ncbi.nlm.nih.gov]

Information about treatments for children can be found on the Medicines for Children website. Outlook Affected babies do not behave normally. [epilepsy.org.uk]

Read More Read Less Prognosis Prognosis The course of Ohtahara syndrome is severely progressive. If epilepsy surgery is not feasible, seizures become more frequent and are accompanied by delays in physical and cognitive development. [ninds.nih.gov]

This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders. Neurological Disorders and Stroke » [brainfacts.org]

It is concluded that early detection of Ohtahara syndrome is of essential importance for the prognosis of newborns and little infants with seizures. [ncbi.nlm.nih.gov]

Structural brain etiologies Genetic etiologies (STXBP1, SLC25A22, CDKL5, ARX, SPTAN1, PCDH19, KCNQ2, SCN2A and others) Metabolic etiologies (mitochondrial disorders, non-ketotic hyperglyinemia, pyridoxine/pyridoxal-5-phosphate disorders, carnitine palmitoyl [epilepsydiagnosis.org]

With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. [ncbi.nlm.nih.gov]

[Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy. [malattierare.regione.veneto.it]

Mutual transition suggests the same pathophysiology among three syndromes and the age factor should be considered as the common denominator responsible for the manifestation of each of their own specific clinico-electrical features. [ncbi.nlm.nih.gov]

There is considerable clinical overlap between the two conditions and some authors have suggested that they are part of a spectrum since they have similar pathophysiologic pathways[6]. 1. a Ohtahara, S. et al. [icnapedia.org]

Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy [dx.doi.org]

Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. View research on this topic. View studies being conducted about this condition. [brainfacts.org]

Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them. [web.archive.org]

VNS therapy involves implanting a device that can prevent or lessen seizures. It works by sending mild pulses of electrical energy to the brain through the vagus nerve. [childneurologyfoundation.org]

View Article : Google Scholar : PubMed/NCBI 11 Fan X, Brass LF, Poncz M, Spitz F, Maire P and Manning DR: The alpha subunits of Gz and Gi interact with the eyes absent transcription cofactor Eya2, preventing its interaction with the six class of homeodomain-containing [spandidos-publications.com]

Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]