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81 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Granular Osmiophilic Deposits in Cells

  • Neuronal Ceroid Lipofuscinosis Type 4B

    osmiophilic deposits (GROD) in cells 0003657 Increased neuronal autofluorescent lipopigment 0002074 Myoclonus 0001336 Parkinsonism 0001300 Rapidly progressive Worsening quickly[rarediseases.info.nih.gov] Electronmicroscopy revealed osmiophilic granular deposits in the cytoplasm of many retinal glial cells. REFERENCES 1.[healio.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
  • Adult Neuronal Ceroid Lipofuscinosis

    NCL1 is characterised by the accumulation of auto fluorescent lipopigment in granular osmiophilic deposits (GROD) in neurones and other cell types using electron microscopy[labs.gosh.nhs.uk] 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]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis

    Finally, in the autonomic ganglion cells of the submucosal nerve plexus there were membrane-enclosed homogeneous and granular cytosomes resembling the granular osmiophilic[ncbi.nlm.nih.gov] 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]

    Missing: Arrhythmias Detected Prenatally
  • Northern Epilepsy

    osmiophilic deposits in cells, increased serum arachidonic acid, decreased linoleic acid In juvenile and adult forms, features of above forms plus extrapyramidal signs, progressive[merckmanuals.com] 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]

  • Neuronal Ceroid Lipofuscinosis Type 3

    ,including the variant form with granular osmiophilic deposits (GROD) Relevant External Links for CLN3 Genetic Association Database (GAD) CLN3 Human Genome Epidemiology (HuGE[genecards.org] […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] 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 9

    The existence of this novel CLN9-deficient NCL variant is supported by the presence of curvilinear inclusions and granular osmiophilic deposits (GRODS) seen in neurons and[thieme-connect.com] […] accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.[malacards.org] NCL1 is characterised by the accumulation of auto fluorescent lipopigment in granular osmiophilic deposits (GROD) in neurones and other cell types using electron microscopy[labs.gosh.nhs.uk]

    Missing: Arrhythmias Detected Prenatally
  • Presenile Dementia with Bone Cysts

    osmiophilic deposits (GROD) in cells Lewy bodies Muscle weakness Cranial nerve paralysis Chronic fatigue Developmental regression Sepsis Dysgammaglobulinemia Perianal abscess[mendelian.co] It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and[mendelian.co] Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Granular[mendelian.co]

    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 Granular Osmiophilic Deposits in Cells
  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    osmiophilic deposits (GROD) in cells Unsteady gait Spastic tetraplegia Peripheral axonal neuropathy Skeletal muscle atrophy Clumsiness Cerebral cortical atrophy Intellectual[mendelian.co] […] disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.[mendelian.co] […] myelination Sleep disturbance Irritability Chorea Hyporeflexia Hypoplasia of the corpus callosum Pain Babinski sign Sensory ataxia Episodic ataxia Slurred speech Truncal ataxia Granular[mendelian.co]

    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 Granular Osmiophilic Deposits in Cells