SciELO - Scientific Electronic Library Online

 
vol.38 número3Síndrome de Lynch: aspectos genéticos, clínicos y diagnósticosHepatitis isquémica fulminante inducida por disfunción cardiaca severa: reporte de caso índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados

Revista

Articulo

Indicadores

  • No hay articulos citadosCitado por SciELO

Links relacionados

  • No hay articulos similaresSimilares en SciELO

Compartir


Revista de Gastroenterología del Perú

versión impresa ISSN 1022-5129

Resumen

MORAN-MARINOS, Cristian; VILCHEZ-CORNEJO, Jennifer  y  QUISPE-COLQUEPISCO, Sarita. Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case. Rev. gastroenterol. Perú [online]. 2018, vol.38, n.3, pp.280-284. ISSN 1022-5129.

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 It is a rare case, of great interest, heterogeneity in its clinical manifestations and unpublished by its complication, constituting a challenge to reach its diagnosis of this orphan disease.

Palabras clave : Gaucher disease; Glucosylceramidase; Histiocytes.

        · resumen en Español     · texto en Español     · Español ( pdf )

 

Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons