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Early Infantile Epileptic Encephalopathy Type 17

EIEE17


Presentation

  • We report an infant with complex I deficiency of the mitochondrial respiratory chain whose most conspicuous symptom at presentation was an Ohtahara syndrome.[ncbi.nlm.nih.gov]
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]
  • Two of their patients had additional movement disorders including dystonia and chorea and athetosis .[epilepsygenetics.net]
  • 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]
  • 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]
Cognitive Deficit
  • The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits.[ncbi.nlm.nih.gov]
Infantile-Onset Seizures
  • Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family[dx.doi.org]

Workup

Burst Suppression
  • 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]
  • We report on an unexpected finding of CSWS in an 18-month-old male whose previous EEG at age 45 days was grossly abnormal with the presence of a burst suppression pattern during wakefulness and sleep.[ncbi.nlm.nih.gov]
  • It is also known as early infantile epileptic encephalopathy or early infantile epileptic encephalopathy with burst suppression pattern.[epilepsy.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]
  • ., Frost, J.D. (2003) Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome).[scindeks.ceon.rs]
Generalized Polyspikes
  • 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 TCS, FS Nil Normal* – 3 yrs: normal MRI-normal D-II-4 53 yrs 24 mths 8 yrs TCS NK Normal* – – – D-II-6 40 yrs 24 mths 14[dx.doi.org]
Focal Spikes
  • In other patients, the EEG evolves into focal spike discharges or multiple independent spike foci. We report a 5-year-old girl with Ohtahara syndrome that persistently demonstrated tonic spasms and suppression-burst on multiple EEGs.[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 Seiten Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies.[books.google.com]
  • Is there any treatment? Antiepileptic drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. Corticosteroids are occasionally helpful.[web.archive.org]

Prognosis

  • 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]
  • What is the prognosis? The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by physical and mental retardation. Some children will die in infancy; others will survive but be profoundly handicapped.[web.archive.org]

Etiology

  • 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]

Epidemiology

  • [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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]

Prevention

  • 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]
  • 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]

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