"The glucosylceramide beta (GBA) gene provides instructions for making ß-glucocerebrosidase. Mutations in the GBA gene reduce or eliminate the function of this lysosomal enzyme leading to a build-up of toxic glucocerebroside and related substances in various tissues and organs 7."
"Erlenmeyer flask deformities"
"Erlenmeyer flask deformity"
"Gaucheromas: rare pseudotumours comprising a mass of Gaucher cells 11"
"reduced T1 and T2 signal from involved bone marrow (due to infiltration of Gaucher cells)"
Expected headings
"Complications"
"Gaucher disease is the most common lysosomal storage disorder in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in the accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver."
"clinical presentation tends to be with skeletal symptoms (bone pain, pathological fractures, osteonecrosis and bone crises ) 4, hepatomegaly, splenomegaly, and haematological disturbances"
"type 1 (non-neuropathic form or adult form): commoner type; progressive hepatomegaly, splenomegaly, anaemia and thrombocytopenia, and marked skeletal involvement; lungs and kidneys may also be involved, but the CNS is spared"
"Skeletal involvement is seen in 70-100% of patients and primarily involves long bones (tibia, humerus, femur) as well as vertebrae. Ribs, hands and wrists, ankles and feet, and mandible may also be involved 6. Features of skeletal involvement include:"
"Enzyme replacement with macrophage-targeted glucocerebrosidase has been shown to be highly effective in type 1 Gaucher disease, halting the progression and even reversing both bone marrow and visceral infiltration 5. Radiographically, hepatomegaly and splenomegaly respond more rapidly than skeletal changes."
"type 1 (non-neuropathic form or adult form): commoner type; progressive hepatomegaly, splenomegaly, anaemia and thrombocytopenia, and marked skeletal involvement; lungs and kidneys may also be involved, but the CNS is spared"
"type 1 (non-neuropathic form or adult form): commoner type; progressive hepatomegaly, splenomegaly, anaemia and thrombocytopenia, and marked skeletal involvement; lungs and kidneys may also be involved, but the CNS is spared"
"type 2 (acute neuropathic form or infantile form): severe progressive neurological involvement with death by 1 to 2 years of age; hepatomegaly, splenomegaly, is also present (usually evident by 6 months of age)"