publication . Article . 2020

Gaucher disease type 2 (case report)

D. R. Shagieva; R. V. Magzhanov; A. R. Rakhmatullin; E. V. Sayfullina; R. G. Musin;
Open Access Russian
  • Published: 28 Sep 2020 Journal: Russkij Žurnal Detskoj Nevrologii, volume 15, issue 2, pages 60-64 (issn: 2073-8803, eissn: 2412-9178, Copyright policy)
  • Publisher: ABV-press
Abstract
<jats:p>The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented<jats:italic> </jats:italic>clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia,<jats:italic> </jats:italic>thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.</jats:p>
Persistent Identifiers
Subjects
free text keywords: gaucher disease, hepatosplenomegaly, glucocerebrosidase, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429, Pathology, medicine.medical_specialty, medicine, Glucocerebrosidase, Anemia, medicine.disease, Congenital malformations, business.industry, business, Arterial duct, Clinical pathology, Oval window, medicine.anatomical_structure, Disease, Hepatosplenomegaly, medicine.symptom
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