Neuronal ceroid lipofuscinosis type I in a three-year-old child
https://doi.org/10.34680/2076-8052.2024.4(138).625-634
Abstract
Neuronal ceroid lipofuscinosis type I (Santavuori-Haltia disease) is an orphan disease from the group of neuronal lipofuscinoses. The article analyzes the literature data on the frequency of this group of diseases. The issues of the pathogenesis of lipofuscinosis are highlighted. The literature data on the genetic nature of the disease were studied, candidate genes of lipofuscinosis, clinical variants of the course of the disease were shown. An example of a 3-year-old child's own observation is given, the manifestation and course of the disease are described. It is shown that diagnosis does not cause difficulties due to the availability of genetic typing, but modern therapy does not prevent the progression of the disease, pathogenetic therapy drugs are under development. Attention is drawn to the need for primary care physicians to be wary of orphan diseases. Clinical manifestations are shown in which it is necessary to consult a geneticist and genetic testing.
About the Authors
A. B. Ershevskaya
Yaroslav-the-Wise Novgorod State University
Russian Federation
Russian Federation
Veliky Novgorod
L. N. Pogrebnyak
Yaroslav-the-Wise Novgorod State University
Russian Federation
Russian Federation
Veliky Novgorod
T. I. Оkonenko
Yaroslav-the-Wise Novgorod State University
Russian Federation
Russian Federation
Veliky Novgorod
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Review
For citations:
Ershevskaya A.B., Pogrebnyak L.N., Оkonenko T.I. Neuronal ceroid lipofuscinosis type I in a three-year-old child. Title in english. 2024;(4(138)):625-634. (In Russ.) https://doi.org/10.34680/2076-8052.2024.4(138).625-634
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