CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

doi:10.1016/j.ymgme.2014.08.011

Article

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

Molecular genetics and metabolism - 1 Feb 2015

Burrow Thomas A, Sun Ying, Prada Carlos E, Bailey Laurie, Zhang Wujuan, Brewer Amanda, Wu Steve W, Setchell Kenneth D R, Witte David, Cohen Mitchell B, Grabowski Gregory A

Abstract excerpt

A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11 years, experienced progressive mesenteric and retroperitoneal lymphadenopathy, lung disease, and neurological involvement leading to death at an age of 12.5 years. Autopsy showed significant pathology of the brain, lymph nodes, and lungs. Liver and spleen glucosylceramide (GluCer) and glucosylsphingosine (GluS) levels...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

Abstract excerpt

Topics

Related research