Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease

Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur, but are rare, and tend to be large expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD; the Erlenmeyer flask deformity, bone crises, or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expands the extent of phenotypic variation encountered in this single gene disorder.

Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease

“…This is the third patient with type 3 GD with the unique features of symmetrical bilateral cortical bone lesions [5] . Aside from the bone involvement, this patient shares other similarities with the previously reported cases including abnormal saccadic eye movements, gender, approximate age of disease onset and genotype.…”

“…Osteolytic lesions are rare and often characterized by large progressive intermedullary lesions with cortical thinning that may become necrotic [2] , [3] , [4] . Previously, two adolescent patients with GD were reported to have bilateral symmetrical osteolytic lesions of the humerii and tibias, with cortical scalloping and indolent growth [5] . Here we present a third patient with GD who has similar symmetrical bilateral osteolytic lesions, this time of the femurs.…”

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

“…Up to date, the pathophysiology of bone complications in GD is not adequately clarified. According to the literature, the infiltration of Gaucher cells in the bone marrow cavity may be related to the following situations: firstly, the interference with vascularity at the cortical surface through red marrow expansion, and secondly, the changes in cytokine expression caused by macrophage activation from glucocerebroside accumulation [21][22][23].…”

Symmetric, bilateral upper and lower extremity lucent lesions in a patient with Gaucher's disease on enzyme replacement therapy

“…The patient in this case report with Type 3 Gaucher's Disease possessed the L444P/L444P mutation, overall seen in 11% of Gaucher's patients. Of considerable interest is that in 2 separate case reports involving 3 other Gaucher's patients with bilateral symmetric lucencies, all 3 also had the L444P/L444P genotype [5 , 6] . All 3 had also been diagnosed with Type 3 Gaucher's Disease [5 , 6] .…”

“…Also of interest is that all of these patients had been on enzyme replacement therapy at an early age [5 , 6] . This commonality has also been previously observed in one of the prior case reports on this subject [6] .…”