Email this article Gaucher disease type 2 (case report)
- Authors: Shagieva D.R.1, Magzhanov R.V.2, Rakhmatullin A.R.2, Sayfullina E.V.2, Musin R.G.3
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Affiliations:
- Children Clinic No. 4
- Bashkir State Medical University
- Children Center for Psychoneurology and Epileptology, Republican Children Clinical Hospital
- Issue: Vol 15, No 2 (2020)
- Pages: 60-64
- Section: CLINICAL OBSERVATIONS
- Published: 28.09.2020
- URL: https://rjdn.abvpress.ru/jour/article/view/335
- DOI: https://doi.org/10.17650/2073-8803-2020-15-2-60-64
- ID: 335
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Abstract
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.
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About the authors
D. R. Shagieva
Children Clinic No. 4
Author for correspondence.
Email: shagievadilara@yandex.ru
ORCID iD: 0000-0002-4815-2068
15 Ordzhonikidze St., Ufa 450068, Republic of Bashkortostan Russian Federation
R. V. Magzhanov
Bashkir State Medical University32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan Russian Federation
A. R. Rakhmatullin
Bashkir State Medical University32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan Russian Federation
E. V. Sayfullina
Bashkir State Medical University32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan Russian Federation
R. G. Musin
Children Center for Psychoneurology and Epileptology, Republican Children Clinical Hospital
10 Tikhoretskaya St., Ufa 450009, Republic of Bashkortostan
Russian FederationReferences
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