Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from chronic pain in the left hypochondrium with episodes of bleeding for 3 years and sensation of thermal rise, physical examination revealed jaundice and massive splenomegaly, without neurological involvement. Severe osteoporosis, pancytopenia, and the presence of portal vein thrombosis with cavernomatous transformation complicated by portal biliopathy simulating a klatskin tumor, marrow and enzymatic studies were compatible with Gaucher disease, were shown as unexpected findings. he received treatment with imiglucerase, following up. It is a rare case, of great interest, heterogeneity in its clinical manifestations and unpublished by its complication, constituting a challenge to reach its diagnosis of this orphan disease.
|Título traducido de la contribución||Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case|
|Número de páginas||5|
|Publicación||Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru|
|Estado||Publicada - 1 jul 2018|
|Publicado de forma externa||Sí|