1.
J Assoc Physicians India
; 61(11): 815-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24974496
RESUMO
Gaucher's disease is a rare lysosomal storage disorder. Excess accumulation of glucosylceramide predominantly occurs in abdominal viscera. Cardiac involvement is rare, though they generally represent as restrictive cardiomyopathy and pericarditis. Our case, a 19-year old boy initially presented with hepatosplenomegaly but later diagnosed with haemorrhagic pericardial effusion. Enzyme supplementation gives successful outcome but our case was managed symptomatically with pericardiocentesis.