Clinical case of neuronal ceroid lipofuscinosis type II in a child

Neuronal ceroid lipofuscinosis is a group of hereditary neurodegenerative diseases inherited by an autosomal recessive trait. This disease is the most common neurodegenerative pathology in children with a prevalence of 1:1,000,000 to 1:14,000 in the world. Currently, 14 genetically different forms of this pathology have been identified, which are characterized by the accumulation of abnormal lipofuscin-like material in the lysosomes of nerve cells, progressive and selective destruction of neurons. In neuronal ceroid lipofuscinosis, there is a defect in the gene that translates various lysosomal enzymes. Due to the insufficiency of the enzyme tripeptidyl peptidase 1, an accumulation of pathological autofluorescent lipopigment is observed in the central nervous system (CNS) of the patient, leading to violations of the normal function of neurons. Clinically, the disease manifests at the age of 3–4 years, in the form of progressive myoclonic epilepsy, mental and motor disorders, delays and stops in development. The article describes data on the prevalence, clinical features and therapy of this pathology, and also presents a clinical case with the onset of the disease in a child aged 2 years 11 months. The clinical case demonstrates the difficulties of diagnosing this pathology due to the rarity of this pathology, a wide range of differential diagnostics, the duration and high cost of molecular genetic studies. An early diagnosing would make it possible to explain the nature of epilepsy, to choose a rational therapy for this disease in a timely manner.