Нейрональний цероїдний ліпофусциноз
ORPHA:216· ICD-10 E75.4· Neuronal ceroid lipofuscinosis
Визначення(English summary)
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized 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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- All ages