Gaucher disease type 2 (case report)
https://doi.org/10.17650/2073-8803-2020-15-2-60-64
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.
Supporting agencies: The authors are grateful to E.Yu. Zakharova, MD, Professor, Head of the Laboratory of Hereditary Metabolic Diseases, Research Centre of Medical Genetics, and G.V. Baydakova, PhD, Leading Researcher.
About the Authors
D. R. Shagieva
Children Clinic No. 4
Russian Federation
15 Ordzhonikidze St., Ufa 450068, Republic of Bashkortostan
Russian Federation
15 Ordzhonikidze St., Ufa 450068, Republic of Bashkortostan
R. V. Magzhanov
Bashkir State Medical University
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
A. R. Rakhmatullin
Bashkir State Medical University
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
E. V. Sayfullina
Bashkir State Medical University
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
Russian Federation
32 Zaki Validi St., Ufa 450076, Republic of Bashkortostan
R. G. Musin
Children Center for Psychoneurology and Epileptology, Republican Children Clinical Hospital
Russian Federation
Russian Federation
10 Tikhoretskaya St., Ufa 450009, Republic of Bashkortostan
References
1. Баразбаева А.А., Малкова Т.В., Фатуллаева З.Л. и др. Клинический случай пациента с болезнью Гоше. Вестник КазНМУ 2017;(1):181. [Barazbaeva A.A., Malkova T.V., Fatullaeva Z.L. et al. Gaucher disease: case report. Vestnik KazNMU = Kazakh National Medical University 2017;(1):181. (In Russ.)].
2. Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С. и др. Ведение детей с болезнью Гоше. Современные клинические рекомендации. Педиатрическая фармакология 2016;13(3):245. [Baranov A.A., Namazova-Baranova L.S., Gundobina O.S. et al. Management of Gaucher disease in children. Current clinical guidelines. Pediatricheskaya farmakologiya = Pediatric Pharmacology 2016;13(3):245. (In Russ.)].
3. Гундобина О.С. Болезнь Гоше. Поликлиника 2006;(4):32–6. [Gundobina O.S. Gaucher disease. Poliklinika = Polyclinic 2006;(4):32–6. (In Russ.)].
4. Мовсисян Г.Б., Гундобина О.С., Намазова-Баранова Л.С. и др. Демографическая и клинико-генетическая характеристика детей с болезнью Гоше в Российской Федерации: данные педиатрического регистра. Педиатрическая фармакология 2016;13(4):358–60. [Movsisyan G.B., Gundobina O.S., Namazova-Baranova L.S. et al. Demographic, clinical, and genetic characteristics of children with Gaucher disease in the Russian Federation: data from the pediatric registry. Pediatricheskaya farmakologiya = Pediatric Pharmacology 2016;13(4):358–60. (In Russ.)].
5. Di Rocco M., Andria G., Deodato F. et al. Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm. Pediatr Blood Cancer 2014;61(11):1905–9. DOI: 10.1002/pbc.25165.
6. Vellodi A., Bembi B., de Villemeur T.B. et al. Management of neuronopathic Gaucher disease: а European consensus. J Inherit Metab Dis 2001;24(3):319–27.
Review
For citations:
Shagieva D.R., Magzhanov R.V., Rakhmatullin A.R., Sayfullina E.V., Musin R.G. Gaucher disease type 2 (case report). Russian Journal of Child Neurology. 2020;15(2):60-64. (In Russ.) https://doi.org/10.17650/2073-8803-2020-15-2-60-64
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