A clinical case of type 2 neuronal ceroid lipofuus cynosis caused by a homozygous mutation in the TPP1 gene

Neuronal ceroid lipofuscinosis is a group of diseases caused by the accumulation of autofluorescent lipid-containing pigments: ceroid and lipofuscin. Pigments form intracellular inclusions that look like curvilinear layered bodies (sometimes resembling fingerprints) in neurons, skeletal muscles, internal organs, and leukocytes. The gene responsible for the development of the disease is localized on chromosome 1 in the 1p32 segment. The type of inheritance is autosomal recessive. Depending on the age of manifestation, type 2 NCL is divided into three forms: congenital, late infantile, and juvenile forms. The classic form of the late infantile form of the neuronal ceroid form is widespread throughout the world, but with the greatest frequency in western Finland. The first symptoms usually appear between the ages of two and four. Manifest symptoms are generalized tonic-clonic seizures, delayed speech development, ataxia. As the disease develops, other types of epileptic seizures join (myoclonic, partial, dialeptic). Following the development of epileptic seizures, intellectual disturbances develop, and there is a loss of previously acquired motor skills. The article describes a clinical case of neuronal ceroid lipofuscinosis type 2, diagnosed in a boy born in 2017, who debuted as an epileptiform syndrome. The dynamics of changes in the clinical manifestations of lipofuscinosis since the onset of manifestations in 2019 is highlighted in detail, studies conducted on the patient in the hospital are reflected, with interpretations of the conclusions, symptomatic treatment regimens are given with indications of the dose regimen for each drug. The main features of the manifestation and progression of type 2 neuronal ceroid lipofuscinosis were considered in the framework of a specific individual case. Based on the data presented in the study, the prognosis for this disease, in the absence of replacement therapy, is unfavorable. That is why it is so important to be able to establish this diagnosis in a timely manner.

1. Батышева Т. Т., Кондакова О. Б., Ахадова Л. Я. и др. Случай нейронального цероидного липофусциноза 7 типа. Вестник физиотерапии и курортологии. 2015; 21 (2): 101-102. [Batysheva T. T., Kondakova O. B., Akhadova L. Ya., et al. Case of neuronal ceroid lipofuscinosis type 7. Bulletin of Physiotherapy and kurortology. 2015; 21 (2): 101-102.]

2. Определение судебной коллегии по гражданским делам Верховного Суда Российской Федерации от 12.08.2019 г. по делу №29-КГ19-1 [Электронный ресурс] URL: https://www.vsrf.ru/stor_pdf.php?id=1806678/. [Determination of the Judicial Board for civil Cases of the Supreme Court of the Russian Federation dated 12.08.2019 in case No. 29-KG19-1 [Electronic resource] URL: https://www.vsrf.ru/stor_pdf.php?id=1806678/].

3. Селивёрстов Ю. А. Неврология сегодня (часть I). Обзор 71-й ежегодной встречи Американской академии неврологии // Система координат. 2019; 1: 3-10. [Seliverstov Y. A. Neurology today (Part I). Review of the 71st Annual Meeting of the American Academy of Neurology // The coordinate system. 2019; 1: 3-10.]