Neuronal ceroid lipofuscinosis (Q40073): Difference between revisions

From determinar.ia.br - Determine suas informações
Created a new Item
 
Changed label, description and/or aliases in pt-br, en
description / pt-brdescription / pt-br
 
As lipofuscinoses ceróides neuronais são um grupo de doenças cerebrais degenerativas progressivas hereditárias caracterizadas clinicamente por um declínio das capacidades mentais e outras capacidades, epilepsia e perda de visão através da degeneração retiniana e histopatologicamente por acúmulo intracelular de um material autofluorescente, lipofuscina ceróide, nas células neuronais do cérebro e da retina.
description / endescription / en
 
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

Revision as of 05:44, 13 August 2026

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Language Label Description Also known as
default for all languages
5C56.1
    English
    Neuronal ceroid lipofuscinosis
    Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

      Statements