Neuronal ceroid lipofuscinosis type 6: clinical case

Neuronal ceroid lipofuscinosis type 6: clinical case

L.M. Shchugareva^1,2, O.V. Poteshkina^1,2, E.L. Dumov¹

¹Children City Multidisciplinary Clinical Specialized Center of High Medical Technologies, St. Petersburg

²I.I. Mechnikov North-Western State Medical University, St. Petersburg 

Neuronal ceroid lipofuscinoses (NCLs, CLN6, Batten disease) are a group of genetically determined progressive neurodegenerative diseases with a predominantly autosomal recessive inheritance type, lipidoses caused by abnormal accumulation of lipofuscin-like substances in cells. NCLs are characterized by age-dependent onset, predominant CNS damage with the progression of myoclonic epilepsy, intellectual and motor disorders, as well as damage to the visual organ. The disease pathogenetic mechanism is based on a disorder of the lipofuscin pigment removal, which normally accumulates in the body tissues, but much more slowly. In the case of NCL, the pigment accumulation occurs rapidly and leads to tissue atrophy.

Currently, this group of diseases is considered within the framework of the "genetic disorder" concept, in which genetic classification is used. There are 14 types of NCLs depending on the damage of the "responsible" gene, while the same genotype can give different clinical phenotypes and vice versa, i.e. there is a phenotypic convergence of genetic heterogeneity diseases. Recently, due to the development of neurophysiology, genetics, neuropharmacology and the development of NCL targeted therapy, timely and accurate diagnosis of the genetic disease type and mutation of the "responsible" gene is especially relevant.

The article presents a clinical case concerning a disease type, the late diagnosis of which was due to the use of selective biomarker panels instead of whole exome sequencing.

Keywords: neuronal ceroid lipofuscinosis, progressive neurodegenerative diseases, myoclonic epilepsy, whole exome sequencing.

For citation: Shchugareva L.M., Poteshkina O.V., Dumov E.L. Neuronal ceroid lipofuscinosis type 6: clinical case. RMJ. 2023;3:39–44.