Create issue ticket

3,245 Possible Causes for Arrhythmias Detected Prenatally, Autofluorescent Lipopigment in Neurons, Optic Atrophy

  • Infantile Neuronal Ceroid Lipofuscinosis

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] Motor skills and speech are lost, and optic atrophy causes blindness. A variety of neurological symptoms, such as epilepsy and myoclonic seizures, appear.[en.wikipedia.org] There is retinal degeneration, the optic nerve undergoes atrophy, and there is a complete visual loss.[symptoma.com]

    Missing: Arrhythmias Detected Prenatally
  • 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] An optic fundoscopy revealed a devastated retina and severe optic atrophy. We report this case with the brief review of related literature.[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] atrophy 0000648 5%-29% of people have these symptoms Ataxia 0001251 Behavioral abnormality Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems[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 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 optic nerve showed atrophy and gliosis with complete loss of myelin sheaths.[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
  • 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] 1, Lethal Ataxia With Deafness and Optic Atrophy, Leigh Syndrome, Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema, Leukoencephalopathy - Ataxia - Hypodontia[crm.diseaseinfosearch.org] These occur in approximately 50-70% of individuals with TSC, and are most frequently detected prenatally or in the neonatal period.[clinicaladvisor.com]

  • MERRF Syndrome

    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] There may also be optic atrophy, skeletal muscle with a history of myalgia, weakness, or ptosis.[en.wikipedia.org] Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome.[checkorphan.org]

    Missing: Arrhythmias Detected Prenatally
  • Neuronal Ceroid Lipofuscinosis Type 3

    […] by an accumulation of autofluorescent lipopigments in neurons and extraneuronal tissues.[alliedacademies.org] The fundus shows a bull's eye maculopathy, diffuse pigmentary degeneration, arteriolar attenuation and optic atrophy, and an extinguished ERG.[ncbi.nlm.nih.gov] atrophy.[pediatricneurosciences.com]

    Missing: Arrhythmias Detected Prenatally
  • 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] atrophy, and cardiomyopathy.[clinicalgate.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] atrophy, convulsions, and mental deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain.This is a neurodegenerative disorder.[medigoo.com] […] accumulation of autofluorescent lipopigments.[jnnp.bmj.com]

    Missing: Arrhythmias Detected Prenatally
  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    […] disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.[mendelian.co] […] retinopathy Cataract-ataxia-deafness syndrome Cerebellar ataxia, Cayman type Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar[se-atlas.de] […] intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.[mendelian.co]

    Missing: Arrhythmias Detected Prenatally

Similar symptoms