Gaucher disease type 2 (case report)

RusskijŽurnal Detskoj Nevrologii

E. V. Sayfullina¹  R. V. Magzhanov¹  A. R. Rakhmatullin¹  R. G. Musin²  D. R. Shagieva³ 

[1] Bashkir State Medical University;Children Center for Psychoneurology and Epileptology, Republican Children Clinical Hospital;Children Clinic No. 4;

关键词: gaucher disease;    hepatosplenomegaly;    glucocerebrosidase;   

DOI  :  10.17650/2073-8803-2020-15-2-60-64

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown