Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Individualization of long-term enzyme replacement therapy for Gaucher disease

“…Achievement and maintenance of these goals should then be evaluated by thorough and regular monitoring as recommended by the International Collaborative Gaucher Group (ICGG) International and US Regional Coordinators. [1][2][3] The treatment plan is considered successfully implemented only when all goals are achieved and maintained in all affected organ systems.…”

Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy

“…GD1 is the commonest type comprising of 95% of all cases (Charrow et al 2000) and although considered non-neuropathic, peripheral neuropathy (Biegstraaten et al 2010) and Parkinson's disease (Tayebi et al 2001) have been documented in this subset. Most of the patients with GD1 are symptomatic in childhood (Charrow et al 2004) and often present with hepatosplenomegaly, haematological manifestations (anaemia and thrombocytopenia) or bone disease. Early onset correlates well with severe disease progression (Kaplan et al 2006).…”

Gaucher Disease in Two Siblings

“…At presentation the patients may bruise easily owing to thrombocytopenia, chronic fatigue secondary to anemia, hepatomegaly with or without deranged liver function tests, splenomegaly and bone pains. The skeletal system involvement manifests as bone pains, osteonecrosis, bone marrow infiltration with Gaucher cells, osteopenia, lytic lesions, sclerosis, Erlenmeyer flask deformity-bone remodeling failure which occurs regardless of disease severity [4].The visceral manifestations are in the form of splenomegaly followed by hepatomegaly. Hematological manifestations take the shape of anemia, thrombocytopenia, neutropenia, pancytopenia and coagulopathy.…”