Open AccessGaucher disease type 2 (case report)
Author(s) -
Д. Р. Шагиева,
Р. В. Магжанов,
А Р Рахматуллин,
Е. В. Сайфуллина,
Р. Г. Мусин
Publication year - 2020
Publication title -
russkij žurnal detskoj nevrologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 2
eISSN - 2412-9178
pISSN - 2073-8803
DOI - 10.17650/2073-8803-2020-15-2-60-64
Subject(s) - hepatosplenomegaly , medicine , gaucher's disease , disease , girl , rare disease , anemia , pediatrics , pathology , genetics , biology
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.