Typical pathological changes in the internal organs of an adolescent patient with Niemann-Pick disease type B based on multimodal imaging findings
https://doi.org/10.18705/2782-3806-2025-5-5-420-425
Abstract
Niemann-Pick disease is a rare genetic disorder with an autosomal recessive inheritance pattern, which belongs to a group of sphingolipid metabolism diseases. According to available data, Niemann-Pick disease type B is caused by mutations in the SMPD1 gene, which is located on the short arm of chromosome 11. A missense substitution leads to insufficient production of the lysosomal enzyme acid sphingomyelinase, which is responsible for the breakdown of sphingomyelin. As a result, sphingomyelin accumulates in the cells of the reticuloendothelial system, leading to abnormalities in various organs.
This article describes a clinical case of an adolescent girl with Niemann-Pick disease type B, in whom typical changes in the internal organs were identified using several medical imaging modalities.
About the Authors
O. V. Bodrova
Federal State Budgetary Institution “Almazov National Medical Research Centrе” of the Ministry of Health of the Russian Federation
Россия
Россия
Olga V. Bodrova, MD, Resident of the Department of Radiology and Medical Imaging
2 Akkuratova str., St. Petersburg, 197341
I. A. Mashchenko
Federal State Budgetary Institution “Almazov National Medical Research Centrе” of the Ministry of Health of the Russian Federation
Россия
Россия
Irina A. Mashchenko, MD, PhD, Associate Professor of the Department of Radiology and Medical Imaging
St. Petersburg
G. E. Trufanov
Federal State Budgetary Institution “Almazov National Medical Research Centrе” of the Ministry of Health of the Russian Federation
Россия
Россия
Gennadiy E. Trufanov, MD, PhD, DSc, Professor, Head of the Department of Radiology and Medical Imaging
St. Petersburg
P. V. Kozlova
Federal State Budgetary Institution “Almazov National Medical Research Centrе” of the Ministry of Health of the Russian Federation
Россия
Россия
Polina V. Kozlova, MD, Assistant of the Department of Radiology and Medical Imaging
St. Petersburg
M. G. Shatokhina
Federal State Budgetary Institution “Almazov National Medical Research Centrе” of the Ministry of Health of the Russian Federation
Россия
Россия
Maria G. Shatokhina, MD, PhD, Assistant of the Department of Radiology and Medical Imaging
St. Petersburg
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Review
For citations:
Bodrova O.V., Mashchenko I.A., Trufanov G.E., Kozlova P.V., Shatokhina M.G. Typical pathological changes in the internal organs of an adolescent patient with Niemann-Pick disease type B based on multimodal imaging findings. Russian Journal for Personalized Medicine. 2025;5(5):420-425. (In Russ.) https://doi.org/10.18705/2782-3806-2025-5-5-420-425
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