Radiation Semiotics of Osteoarticular Involvement in Gaucher Disease Type I: a Modern View

Gaucher disease (GD) is an autosomal recessive Lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase that is involved in glycosphingolipid degradation. The involvement of the osteoarticular system is one of the main manifestations of the disease and occurs in 70-100% of patients. However, the rarity of GD, nonspecific and heterogeneous clinical manifestations, and radiation semiotics similar to that of a number of other diseases may make differential diagnosis difficult.

Objective: to present the radiation semiotics of involvement of the osteoarticular system in GD type I. To determine the role of MRI in diagnosing and estimating the severity of osteoarticular involvement in patients with GD type I.

Material and methods. The data of X-ray and magnetic resonance images of the femurs along with the hip and knee joints were retrospectively analyzed in 86 patients diagnosed with GD type I. Studies were performed prior to specific therapy. The specific involvement of bone marrow in the pathological process was evaluated. Changes in the bones and joints, paraarticular structures, and soft tissues were determined.

Results. The patients with GD type I were shown to have a spectrum of osteoarticular changes. It was ascertained that bone involvement in GD might be reversible and irreversible. MRI is a sensitive technique for diagnosing reversible changes in the osseous system in GD.

Conclusion. The radiation semiotics of osteoarticular involvement in patients with GD type I is quite typical, and at the same time extremely variable. MRI is the gold standard method for the current diagnosis of osseous involvement in GD.

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