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1,142 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Developmental 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] A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsies were unrevealing.[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
  • Neuronal Ceroid Lipofuscinosis Type 10

    […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex 1-3.[scielo.br] regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Neurological speech impairment Speech disorder Speech impairment Speech impediment[rarediseases.info.nih.gov] The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited, progressive neurodegenerative disorders in children and in adults characterized morphologically by two[scielo.br]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 7

    The neuronal ceroid lipofuscinoses are characterized by accumulation of autofluorescent lipopigments in the cells and one of the most important pathological manifestations[ncbi.nlm.nih.gov] regression (the loss of previously acquired skills).[rarediseases.info.nih.gov] Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material[uniprot.org]

    Missing: Arrhythmias Detected Prenatally
  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Neurological speech impairment Speech disorder Speech impairment Speech impediment[rarediseases.info.nih.gov] 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
  • Neuronal Ceroid Lipofuscinosis Type 3

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] As the disease progresses, children experience the loss of previously acquired skills (developmental regression).[marketwired.com] The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression).[icdlist.com]

    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] The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.[genecards.org]

  • Neuronal Ceroid Lipofuscinosis Type 4B

    […] of autofluorescent lipopigment storage material 0003208 Granular osmiophilic deposits (GROD) in cells 0003657 Increased neuronal autofluorescent lipopigment 0002074 Myoclonus[rarediseases.info.nih.gov] The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression).[icdlist.com] […] clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material[humpath.com]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 9

    […] accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.[malacards.org] As the disease progresses, children experience the loss of previously acquired skills (developmental regression).[marketwired.com] The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression).[icdlist.com]

    Missing: Arrhythmias Detected Prenatally
  • Congenital Neuronal Ceroid Lipofuscinosis 

    […] material containing autofluorescent lipopigments.[ncbi.nlm.nih.gov] Developmental stagnation followed by regression lead to death by 3 years (mean age 27 months) ( 71 ).[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
  • Neuronal Ceroid Lipofuscinosis Type 8

    […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex1- 3.[elyzeyiko.gq] The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and[ncbi.nlm.nih.gov] […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex 1-3.[scielo.br]

    Missing: Arrhythmias Detected Prenatally

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