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28 Possible Causes for Generalized Spike-and-Slow-Waves, Mild Cerebellar Hypoplasia

  • Benign Adult Familial Myoclonic Epilepsy

    , high-amplitude spike and slow-wave complexes 3.5 Hz, typically 4 s duration.  Absence seizures in JAE are more sporadic.  EEG is slightly faster with generalized spike[slideshare.net] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net] Generalized slow spikes and waves may be present as an interictal pattern, as in Lennox-Gastaut syndrome.[reference.medscape.com]

  • West Syndrome

    Lennox-Gastaut Syndrome: LGS is characterized by multiple types of seizures and an abnormal EEG with generalized slow spikewave discharges.[cdkl5.com] Magnetic resonance imaging of the brain revealed mild cerebral and cerebellar atrophy, high-signal-intensity areas in the white matter, and hypoplasia of the corpus callosum[ncbi.nlm.nih.gov] Interictal EEG displays diffuse and asynchronous high voltage spikes and slow waves suggesting the hypsarrhythmic pattern. B.[bmcneurol.biomedcentral.com]

  • Unverricht-Lundborg Syndrome

    Slow ( 2.5 Hz) electroencephalographic spike and wave discharges in atypical absence epilepsy (ie, Lennox-Gastaut syndrome). Spike, generalized.[emedicine.medscape.com] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net] The EEG usually shows photosensitivity, abnormal slow background, generalized high-amplitude multispikes, 3- to 5-Hertz spike waves or polyspike and wave complexes.[epilepsy.com]

  • Neuronal Ceroid Lipofuscinosis

    EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course[ncbi.nlm.nih.gov] cerebellar ataxia and white matter edema Leukonychia totalis Leukotriene C4 synthase deficiency Levine-Critchley syndrome Levy-Hollister syndrome Lewandowsky-Lutz syndrome[csbg.cnb.csic.es] Paroxysmal, generalized, irregular slow-wave discharges were seen in 30% of the recordings and focal spikes in less than 20%, usually in those 10 years of age or older.[dovepress.com]

  • Angelman Syndrome

    EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges.[ncbi.nlm.nih.gov] Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.org] (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.[ijponline.biomedcentral.com]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] […] ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening and gyral simplification[ajnr.org] Patient II2 showed, at 13 years, several bursts of discharges of spikes, multiple spikes and slow waves at 4–5 Hz without clinical manifestation ( Fig. 2 ).[academic.oup.com]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] cerebellar hypoplasia or vermian aplasia • Joubert syndrome – absence of cerebellar vermis and “molar tooth sign” at cerebellar & mid brain junction • Fragile X associated[slideshare.net] Patient II2 showed, at 13 years, several bursts of discharges of spikes, multiple spikes and slow waves at 4–5 Hz without clinical manifestation ( Fig. 2 ).[academic.oup.com]

  • Spastic Ataxia with Congenital Miosis

    Hyperventilation during EEG reveals a generalized 3 Hz spike and wave on normal background.[quizlet.com] hypoplasia, growth retardation, mild–moderate mental retardation, hypotonia, demyelinating neuropathy, seizures, hypogonadism, and skeletal abnormalities including kyphoscosiosis[nature.com] The major clinical symptoms were cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, growth retardation, endosteal sclerosis, tooth eruption[findzebra.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] epilepsy (with mixed seizures, especially tonic, myoclonic and atypical absence), and a characteristic pattern of slow, generalized spike-and-wave activity on the electroencephalogram[strokecenter.org] cerebellar hypoplasia or vermian aplasia • Joubert syndrome – absence of cerebellar vermis and “molar tooth sign” at cerebellar & mid brain junction • Fragile X associated[slideshare.net] […] complex generalized synchronous pattern seen on electroencephalogram, consisting of a sharply contoured fast wave followed by a slow wave; seen in generalized epilepsy spina[strokecenter.org]

  • 2-Hydroxyglutaric Aciduria

    EEG findings included irregular background activity and slowing, focal or generalized spikes and slow wave discharges.[doi.org] Brain malformations described in association with 22q11.2 deletion syndrome include polymicrogyria, cerebellar hypoplasia, megacisterna magna, and agenesis of the corpus callosum[ncbi.nlm.nih.gov] Additional findings were macrocephaly, febrile or afebrile and partial or generalized seizures, which were well controlled with anticonvulsants.[doi.org]

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