The diagnostic challenges presented in a patient with neuronal ceroid lipofuscinosis type 2

Neuronal ceroid lipofuscinosis type 2 (NCL2) is a severe, continuously progressive hereditary metabolic disease for which there is an effective enzyme replacement therapy.Purpose. To study the opinions of specialists (pediatric neurologists, neurologists-epileptologists, geneticists) about the obstacles to the early diagnosis of neuronal ceroid lipofuscinosis type 2 in patients.Material and methods. The study was conducted by the method of in-depth interviews. 25 physicians dealing with NCL2 pts took part in the interview.Results. From 2000 to 2021, 45 patients with NCL2 were identified in the Russian Federation. Data on the course of the disease were obtained from 38 patients aged 3 to 11 years, of which 16 received enzyme replacement therapy. At the time of the interview, 32/38 were alive, 4/32 had died, and outcome data for 2 patients were missing. The age of onset of the first symptoms varied significantly: from 1 year 10 months to 3 years 6 months. The median age at which children were diagnosed with NCL2 was 52 months, or 4 years 5 months, but it varied from 12 to 96 months. At the time of diagnosis, in addition to epileptic seizures and delayed speech development, ataxia and loss of motor development, as well as other symptoms, were already noted. EEG was performed in 73% of all cases (with photostimulation only in 34%). MRI at an early stage of the disease was performed in only 40%. Only 46% of patients receive (or have ever received) enzyme replacement therapy. In 41% of cases, enzyme replacement therapy was not prescribed due to the long-term diagnosis of NCL2, which led to a palliative status and refusal of the patients’ parents from therapy.Conclusion. Early diagnosis of NCL2 is difficult due to the non-specificity of the first symptoms, as well as due to the poor awareness of doctors about the disease and the main methods of its diagnosis, which leads to late prescribing of enzyme replacement therapy.