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Early Infantile Epileptic Encephalopathy Type 3

Early Infantile Epileptic Encephalopathy with Suppression-Burst Type 3


Presentation

  • Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature.[ncbi.nlm.nih.gov]
Myoclonic Jerking
  • Both patients had early infantile seizures characterized by fragmentary myoclonic jerks associated with burst-suppression pattern on electroencephalography.[ncbi.nlm.nih.gov]
  • jerks, partial fits and periodic paroxysmal EEG abnormalities.[semanticscholar.org]
  • Throughout his infancy, he had small myoclonic jerks and is severely impaired. Two hundred and fourteen infants with epileptic seizures were tested. The researchers looked at 109 genes known or suspected to cause seizures.[seizuresinfant.com]
Ataxia
  • […] apraxia; MCSZ – Microcephaly seizures and developmental delay; GEFSP – Generalized epilepsy with febrile seizures plus; CIAT – Cognitive impairment with or without cerebellar ataxia; SFN - Small fiber neuropathy; CIP – Congenital insensitivity to pain[centogene.com]
  • Early infantile epileptic encephalopathy, ferro-cerebro-cutaneous syndrome 26993267,24259288,24706016 PLCB1 Epilepsy with migrating focal seizures in infancy (EMFSI); epileptic encephalopathy; AR inheritance, deletions reported 22690784,26818157 PNKP Ataxia[tests.labmed.washington.edu]
  • AR 34 23 PNPO Pyridoxamine 5'-phosphate oxidase deficiency AR 15 31 POLG POLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA[blueprintgenetics.com]
  • Ataxia developed in 3, and 3 had profound retardation with hypotonia or dyskinetic movements. [ 1 ] COMMENT.[pediatricneurologybriefs.com]
  • 4 Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Göttingen, Deutschland Background/Purpose: Leukoencephalopathy with VWM is a neurodegenerative disorder mostly beginning during the first years of life with abnormalities of muscle tone and ataxia[thieme-connect.com]
Nystagmus
  • Tonic seizure started clinically with a scream (vertical arrow) and episodic nystagmus (oblique arrows shows EM artefacts).[slideshare.net]
Cerebellar Ataxia
  • ataxia; SFN - Small fiber neuropathy; CIP – Congenital insensitivity to pain; PEPD – Paroxysmal extreme pain disorder; EIG – Epilepsy idiopathic generalized; MRT – Mental retardation autosomal recessive; FIME – Familial infantile myoclonic epilepsy;[centogene.com]

Workup

  • Extensive metabolic workup gave no valuable abnormalities. Her cMRI at 6 weeks showed delayed myelination with no progress 2 months later.[thieme-connect.com]
  • No definite etiology could be established for either case despite an extensive metabolic workup. CT performed within three months of age in both cases was normal. Other workers have also often been unable to find the etiology for EME.[indianpediatrics.net]
Hypsarrhythmia
  • At five months, inter-ictal EEG revealed hypsarrhythmia, but his attacks were still only myoclonuses. ACTH treatment was effective and the myoclonus frequency markedly decreased.[ncbi.nlm.nih.gov]
  • Evolve to hypsarrhythmia and then to diffuse slow spike waves Transformation Persists for long period Evolves to West syndrome and then to Lennox-Gastaut syndrome Epidemiology and Demographics Early myoclonic encephalopathy (EME) is a rare disease with[wikidoc.org]
  • .  EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists for prolonged periods.  Inborn errors of metabolism mc causes.  50% die within weeks or months. 6.[slideshare.net]
Burst Suppression
  • Their persistence in our patients represents an anatomic condition for cortical disconnection providing a pathophysiologic basis to burst-suppression phenomena.[ncbi.nlm.nih.gov]
  • Later; a hypsarhythmic pattern may appear; but it is replaced again by burst suppression.[brainscape.com]
Multifocal Spikes
  • The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases ({2:Molinari et al., 2005}).[diseaseinfosearch.org]
  • West Syndrome (WS) aka as infantile spasms with hypsarrhythmia, EEG abnormality with asynchronous very high amplitude, irregular, continuous multifocal spike an slow wave discharges.[ijponline.biomedcentral.com]
  • ., multifocal spike- and sharp-wave discharges, repetitive paroxysmal activity, unusually low-voltage fast activity, and findings consistent with complex partial seizures [7].[graphyonline.com]
Spike-and-Slow-Waves
  • West Syndrome (WS) aka as infantile spasms with hypsarrhythmia, EEG abnormality with asynchronous very high amplitude, irregular, continuous multifocal spike an slow wave discharges.[ijponline.biomedcentral.com]
  • […] or slow waves mainly in the rolandic regions (but may also occur elsewhere) Early myoclonic encephalopathy - Ictal EEG The myoclonia do not have an ictal EEG expression and may follow bursts Early infantile epileptic encephalopathy with suppression burst[brainscape.com]
  • .  Inter-Ictal EEG  Initial -20% show normal BG with photoparoxysmal discharges of spikes/ polyspikes-slow waves.  Within 1 year, EEG - abnormal slow BG with frequent asymmetrical paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according[slideshare.net]
Focal Spikes
  • .  I stage is before the discovery of CSWS  The EEG shows multi-focal spikes and bisynchronous generalised sharp or spike-wave discharges.  II stage is when CSWS is found  Increase in seizures and the appearance or deterioration of neuropsychological[slideshare.net]

Treatment

  • The seizures were initially thought to be infantile spasms, and vigabatrin (50 mg /kg/day) was started for the treatment of seizures. Rapidly progressive deterioration was noticed after a few days.[ncbi.nlm.nih.gov]
  • The seizures are resistant to treatment. The neurology is very abnormal and patients often do not live beyond one year.[en.wikipedia.org]
  • There are important treatment considerations associated with these disorders.[scholars.northwestern.edu]

Prognosis

  • Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature.[ncbi.nlm.nih.gov]
  • Prognosis severe. Copyright Fois; licensee BioMed Central Ltd. 2014[ijponline.biomedcentral.com]
  • Benign neonatal seizures - Prognosis Normal development and no recurrence of seizures Early myoclonic encephalopathy - Prognosis Psychomotor developmental abnormalities may occur at the onset of seizures or deteriorate rapidly afterwards.[brainscape.com]

Etiology

  • They are typically distinguished from each other according to specific clinical and etiologic criteria.[ncbi.nlm.nih.gov]

Epidemiology

  • An epidemiologic study of childhood epilepsy in Japan detected 4 cases of EME (0.168%) among 2,378 children with epilepsy 10 years of age. 6, 28 In a study of 75 infants with epilepsy of neonatal onset, Watanabe et al. 42 observed 2 cases (2.7%) of EME[neupsykey.com]
  • […] adult-onset Parkinsonism Synonym(s): - Early myoclonic encephalopathy with suppression-bursts Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology The prevalence is unknown but Early myoclonic encephalopathy is a rare disease with only around 30 cases described so far.[orpha.net]
  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.de]
  • […] states Course SB's persist to childhood with transient transformation to hypsarrhythmia Evolve to hypsarrhythmia and then to diffuse slow spike waves Transformation Persists for long period Evolves to West syndrome and then to Lennox-Gastaut syndrome Epidemiology[wikidoc.org]
Sex distribution
Age distribution

Pathophysiology

  • Moreover, recent molecular genetics studies implicate ErbB4 in the pathophysiology of schizophrenia. However, the phenotypic consequences of haploinsufficiency of ErbB4 are not known, as no coding mutations have been identified until now.[ncbi.nlm.nih.gov]

Prevention

  • Prospective treatment with oral sodium benzoate, the N-methyl-d-aspartate receptor antagonist ketamine, and dextromethorphan can favorably modify the early neonatal course of severe nonketotic hyperglycinemia, but does not prevent poor long-term outcomes[ncbi.nlm.nih.gov]
  • GABAA receptors bearing the mutant ß2 subunit were poorly trafficked to the cell membrane and prevented β2 subunits from trafficking to the cell surface.[arizona.pure.elsevier.com]
  • The prognosis of Lennox-Gastaut Syndrome is generally guarded Please find comprehensive information on Lennox-Gastaut Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention,[dovemed.com]
  • This mutation effects the β2 subunit on the GABA A receptor, preventing the brain from its necessary inhibition. In other words the brain becomes hyper-excitable, which result in seizures.[seizuresinfant.com]

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