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Voloshchuk I.N.

Moscow Regional Research Institute of Obstetrics and Gynecology of the Ministry of Health of the Moscow Region;
Russian Medical Academy of Continuous Professional Education of the Ministry of Health of Russia

Barinova I.V.

Moscow Regional Research Institute of Obstetrics and Gynecology

Andreeva E.N.

Endocrinology Research Centre;
Moscow State University of Medicine and Dentistry

Fattakhov A.R.

Moscow Regional Research Institute of Obstetrics and Gynecology

Baydakova G.V.

Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov

Zakharova E.Yu.

Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov

Perinatal lethal Gaucher disease. Case report

Authors:

Voloshchuk I.N., Barinova I.V., Andreeva E.N., Fattakhov A.R., Baydakova G.V., Zakharova E.Yu.

More about the authors

Journal: Russian Journal of Archive of Pathology. 2021;83(4): 56‑60

DOI: 10.17116/patol20218304156

Read: 3060 times

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Table of contents

PERINATAL LETHAL GAUCHER DISEASE. CASE REPORT
PERINATAL LETHAL GAUCHER DISEASE. CASE REPORT

To cite this article:

Voloshchuk IN, Barinova IV, Andreeva EN, Fattakhov AR, Baydakova GV, Zakharova EYu. Perinatal lethal Gaucher disease. Case report. Russian Journal of Archive of Pathology. 2021;83(4):56‑60. (In Russ.)
https://doi.org/10.17116/patol20218304156

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

The paper describes a case of a perinatal lethal Gaucher disease in a 29-week-old fetus with non-immune hydrops, facial dysmorphia, hepatosplenomegaly, and hypoplasia of cerebellum and pons. Gaucher cells were found in the lymph nodes, spleen, lungs, thymus, cerebellum, and bone marrow. No storage cells have been detected in the placenta. There was a significant placental weight increase due to swelling. The diagnosis of Gaucher disease was confirmed by biochemical analysis (deficiency of glucocerebrosidase activity and sharply increased hexanoylsphingosine concentration) and molecular genetic techniques (the presence of two mutations of the GBA gene). Our observation shows that characteristic histologic signs of disease can be detected at early stages of development.

Keywords:

Gaucher disease
perinatal form
non-immune hydrops
pathological anatomy

Authors:

Voloshchuk I.N.

Moscow Regional Research Institute of Obstetrics and Gynecology of the Ministry of Health of the Moscow Region;
Russian Medical Academy of Continuous Professional Education of the Ministry of Health of Russia

Barinova I.V.

Moscow Regional Research Institute of Obstetrics and Gynecology

Andreeva E.N.

Endocrinology Research Centre;
Moscow State University of Medicine and Dentistry

Fattakhov A.R.

Moscow Regional Research Institute of Obstetrics and Gynecology

Baydakova G.V.

Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov

Zakharova E.Yu.

Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov

Received:

06.04.2021

Accepted:

28.05.2021

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References:

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