Create issue ticket

68 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons

  • 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] , epilepsy and the accumulation of an autofluorescent lipopigment in neurones and other cells.[ncbi.nlm.nih.gov] […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org]

    Missing: Arrhythmias Detected Prenatally
  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] 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] Etiology and Pathophysiology CLN2 is caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), leading to the lysosomal accumulation of an autofluorescent lipopigment[unboundmedicine.com]

    Missing: Arrhythmias Detected Prenatally
  • Adult Neuronal Ceroid Lipofuscinosis

    A unifying feature of these devastating conditions is the lysosomal accumulation of autofluorescent lipopigment in neuronal cells [1], [2].[journals.plos.org] […] accumulation of autofluorescent lipopigments.[jnnp.bmj.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
  • 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] […] clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material[humpath.com] […] of autofluorescent lipopigment causing damage predominantly in the central nervous system.[disorders.eyes.arizona.edu]

    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] […] processes: accumulation of autofluorescent lipopigments within various cell types and loss of cells, especially in the cerebral cortex 1-3 .[scielo.br] The neuronal ceroid lipofuscinoses ( NCLs) are a group of inherited, progressive neurodegenerative disorders in children and in adults characterized morphologically by two[elyzeyiko.gq]

    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] 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
  • Congenital Neuronal Ceroid Lipofuscinosis 

    […] material containing autofluorescent lipopigments.[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
  • Late-Infantile Neuronal Ceroid Lipofuscinosis

    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] lipopigment 0003463 Increased neuronal autofluorescent lipopigment 0002074 Myoclonus 0001336 Progressive visual loss Progressive loss of vision Progressive vision loss Progressive[rarediseases.info.nih.gov] Etiology and Pathophysiology CLN2 is caused by deficiency of the enzyme tripeptidyl peptidase 1 (TPP1), leading to the lysosomal accumulation of an autofluorescent lipopigment[unboundmedicine.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]

  • Progressive Myoclonic Epilepsy Type 3

    Neuronal Ceroid Lipofuscinosis  autosomal recessive disease.  characterized by progressive myoclonus with visual failure and accumulation of an autofluorescent lipopigment[slideshare.net] lipopigment in the neurons and glial elements. [33], [34] The first report of NCL from India was a patient with juvenile onset NCL by Gulati et al., [13] subsequently we[bioline.org.br] […] 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

Further symptoms