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733 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Cognitive Regression

  • Neuronal Ceroid Lipofuscinosis

    Neuronal ceroid lipofuscinoses are a group of rare neurodegenerative disorders that are characterised by an accumulation of autofluorescent lipopigments in neurons and extraneuronal[ncbi.nlm.nih.gov] […] and motor regression, premature death, and prominent NCL-type storage material.[ncbi.nlm.nih.gov] , epilepsy and the accumulation of an autofluorescent lipopigment in neurones and other cells.[ncbi.nlm.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] He was slow to learn and at 4 years, he began to have cognitive and motor regression. Cranial MRI findings were very similar to that demonstrated on his brother's scan.[pediatricneurosciences.com] Synonyms Batten disease, Kuf disease Symtoms and course NCL are characterised by psychomotor deterioriation, visual failure, and the accumulation of autofluorescent lipopigment[alzheimer-europe.org]

    Missing: Arrhythmias Detected Prenatally
  • Congenital Neuronal Ceroid Lipofuscinosis 

    […] material containing autofluorescent lipopigments.[ncbi.nlm.nih.gov] Children undergo slow cognitive regression in adolescence or early adulthood.[ncbi.nlm.nih.gov] Neuronal ceroid lipofuscinoses The neuronal ceroid lipofuscinoses are a group of progressive, neurodegenerative disorders named for the histological appearance of storage[ncbi.nlm.nih.gov]

    Missing: Arrhythmias Detected Prenatally
  • Northern Epilepsy

    autofluorescent lipopigment 0002074 Myoclonus 0001336 Seizures Seizure 0001250 Showing of 19 Last updated: 12/1/2018 Making a diagnosis for a genetic or rare disease can[rarediseases.info.nih.gov] These occur in approximately 50-70% of individuals with TSC, and are most frequently detected prenatally or in the neonatal period.[clinicaladvisor.com] In other cases there will be no cognitive deterioration but rather a cognitive stagnation or slowing. Rarely there will be frank cognitive regression or dementia.[jnnp.bmj.com]

  • Neuronal Ceroid Lipofuscinosis Type 3

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] He was slow to learn and at 4 years, he began to have cognitive and motor regression. Cranial MRI findings were very similar to that demonstrated on his brother's scan.[pediatricneurosciences.com] Subsequently, Purkinje cells, gliosis, and the loss of cortical neurons in association with the pathognomonic accumulation of the autofluorescent lipopigments in the remaining[medlink.com]

    Missing: Arrhythmias Detected Prenatally
  • Progressive Myoclonic Epilepsy Type 7

    Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment[slideshare.net] […] impairment with a poor prognosis. [1] PME can present with multiple seizure types, worsening myoclonus, and developmental regression.[journals.lww.com] […] in the neurons and glial elements. 12.  There are five types of NCL that may cause PME:  Classic late infantile NCL (type 2) or Jansky- Bielschowsky disease;  Juvenile[slideshare.net]

    Missing: Arrhythmias Detected Prenatally
  • Unverricht-Lundborg Syndrome

    Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment[slideshare.net] Early detection of epilepsy is essential for successful treatment and to avoid cognitive regression, especially due to early onset epilepsy.[dsresearch.stanford.edu] The risk factors were included in a Cox multivariate proportional hazards regression model.[moh-it.pure.elsevier.com]

    Missing: Arrhythmias Detected Prenatally
  • Familial Infantile Myoclonic Epilepsy

    […] recessive disorders (9 known subtypes) with accumulation of autofluorescent lipopigment Clinical features: Triad: cognitive/motor decline, visual loss, progressive myoclonic[emilytam.com] Children present with cognitive and/or language regression in association with seizures.[neupsykey.com] NCLs are a group of inherited neurodegenerative lysosomal storage disorders that result in defective sphingolipid synthesis and the accumulation of autofluorescent ceroid[invitae.com]

    Missing: Arrhythmias Detected Prenatally
  • Benign Familial Infantile Epilepsy Type 4

    […] recessive disorders (9 known subtypes) with accumulation of autofluorescent lipopigment Clinical features: Triad: cognitive/motor decline, visual loss, progressive myoclonic[emilytam.com] Children present with cognitive and/or language regression in association with seizures.[neupsykey.com] Myoclonic jerks, mental retardation, cerebellar dysfunction EEG slow background, generalized epileptiforn discharges SSEP giant cortical responses Associated conditions: Neuronal[emilytam.com]

    Missing: Arrhythmias Detected Prenatally
  • Epilepsy with Continuous Spike-and-Slow-Waves during Sleep

    Most children with ESES had refractory seizures and global cognitive regression leading to severe intellectual disability.[neupsykey.com] Lack of prominent cognitive regression in the long-term outcome of patients having Electrical Status Epilepticus During Sleep with different types of epilepsy syndromes.[epilepsia.su] Disturbances of personality with psychotic characteristics have been described, as well as a global cognitive regression and impairment of affective development, with aggressiveness[intechopen.com]

    Missing: Arrhythmias Detected Prenatally Autofluorescent Lipopigment in Neurons

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