A clinical case of neuronal ceroid lipofuscinosis type 2

Abstract

Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders. In all forms of NCL, the pathological autofluorescent lipopigment accumulates in the brain and other tissues. The diagnosis is made following determination of the activity of specific enzymes in blood leukocytes or cell culture of skin fibroblasts and investigation of biopsy specimens with electron microscopy as well as molecular genetic research. The article presents a patient with the onset of the disease at the age of 3 with epileptic tonic-clonic seizures, with further progression of the disease in the form of myoclonic seizures, motor pyramidal and cerebellar disorders, as well as intellectual, mnestic and speech disturbances. The presented clinical case demonstrates difficulties in the diagnosis of neurodegenerative diseases at onset, as well as the absence of pathognomonic signs of the disease during neurophysiological and neuroimaging examinations, which makes it necessary to conduct additional molecular and genetic research

Keywords

• нейрональный цероидный липофусциноз
• резистентная эпилепсия
• мутация в гене трипептидил пептидазы (tpp1)