Gaucher Disease
Subject
Subject Source: Medical Subject Headings
Scope Note: Notes = An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase ( GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.,Created For = LHSA-Dott
Found in 1 Collection or Record:
PR2.5619, 1947-1959
Item
Identifier: LHB1 CC/24/PR2.5619
Scope and Contents
Notes, chart, autopsy report and correspondence relating to male patient from Edinburgh and the Lothians aged 23 at first examination in 1947. Conditions mentioned include: nystagmus; dysarthria; psychosis; atrophy; Gaucher's disease; and degenerative disease. No treatment given. Patient discharged.
Dates:
1947-1959