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21 Possible Causes for Mild Cerebellar Hypoplasia, Multifocal Spikes

  • West Syndrome

    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 The background EEG is often highly disorganized with high voltage irregular slow waves intermixed with multifocal spikes and polyspikes, this is termed 'hypsarrhythmia[epilepsydiagnosis.org] The interictal EEG pattern is described as hypsarrhythmic as it is characterised by asynchronous and high-amplitude slow waves and multifocal spikes.[orpha.net]

  • Benign Adult Familial Myoclonic Epilepsy

    hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net] Note the high-amplitude, disorganized slow activity with multifocal spikes with an electrodecremental response.[euroformhealthcare.biz] Cortical myoclonus is more commonly encountered in a multifocal form, presenting with multifocal spike discharges.[neupsykey.com]

  • Unverricht-Lundborg Syndrome

    hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net] Beyond early childhood and almost regardless of etiology, the typical EEG of SGE includes slow ( 2.5 Hz) spike and wave complexes and multifocal spikes.[emedicine.medscape.com] Neurophysiology shows increased amplitude of multimodal evoked potentials, and marked interictal and ictal generalized spike‐wave activity on electroencephalography (EEG).[onlinelibrary.wiley.com]

  • Angelman Syndrome

    Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.org] Moderate amplitude and multifocal spikes appear during epileptiform activity.[ijponline.biomedcentral.com] [4] Presentation [ edit ] Among the signs and symptoms of adenylosuccinate lyase deficiency are the following: [2] Aggressive behavior Microcephaly Autism Brachycephaly Mild[en.wikipedia.org]

  • Miller Dieker Syndrome

    hypoplasia TUBA1A AD TUBB2B Lissencephaly with cerebellar hypoplasia, reelinopathy type Mild frontal lissencephaly w/severe cerebellar hypoplasia RELN AR VLDLR Cobblestone[ncbi.nlm.nih.gov] Electroencephalography indicated frequent multifocal independent spikes, sharp waves, and early features of evolving hypsarrhythmia.[ssajm.org] (the anterior portion often appears flattened) Cavum septi pellucidi et vergae Normal brain stem and cerebellum in most individuals, mild cerebellar vermis hypoplasia in[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    hypoplasia, growth retardation, mild–moderate mental retardation, hypotonia, demyelinating neuropathy, seizures, hypogonadism, and skeletal abnormalities including kyphoscosiosis[nature.com] EEG showed multifocal interictal spikes and abundant seizures arising from both hemispheres and showing migration from one hemisphere to another within a seizure.[findzebra.com] The major clinical symptoms were cerebellar hypoplasia causing ataxia, hypotonia, mild to moderate developmental delay, growth retardation, endosteal sclerosis, tooth eruption[findzebra.com]

  • Complex Cortical Dysplasia with Other Brain Malformations Type 5

    […] brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa.[uniprot.org] EEGs usually show generalized spike–wave discharges or multifocal abnormalities.[neupsykey.com] […] various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild[uniprot.org]

  • Adenylosuccinate Lyase Deficiency

    Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.org] They firstly presented generalized seizures within 1-week old, which manifested with abnormal multifocal spike and ware wave in EEG (Fig. 1D ).[nature.com] [4] Presentation [ edit ] Among the signs and symptoms of adenylosuccinate lyase deficiency are the following: [2] Aggressive behavior Microcephaly Autism Brachycephaly Mild[en.wikipedia.org]

  • Bilateral Temporo-Occipital Polymicrogyria

    Autosomal recessive LIS with cerebellar hypoplasia consists of mild frontal predominant LIS, plus severe hippocampal and cerebellar hypoplasia and dysplasia.[karger.com] (FSIQ ϭ 79), Bilateral holosylvian, generalization, onset at normal neurologic findings parietal, parieto oc- age 9 mo; EEG that shows cipital multifocal spikes, diffuse Severe[fliphtml5.com] cerebellar ver-mis hypoplasia in some patients.[documents.tips]

  • Cerebellar Hypoplasia and Atrophy

    […] hemispheres (arrow) leaving most of the posterior fossa empty. 1F: Coronal section (T2) of a 9 months old infant with PCH2 shows flat cerebellar hemispheres and mild vermal[neurosciencenews.com] Interictally, her background activity was diffusely slow with multifocal spike and wave discharges [Figure 2] .[annalsofian.org] This case represents a mild variant of pontocerebellar hypoplasia type 1. [ 1 ] COMMENT.[pediatricneurologybriefs.com]

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