To describe the initial manifestations and clinical characteristics of bone involvement in a cohort of patients with pediatric-onset Gaucher disease (GD).

Patients with pediatric-onset GD, followed at the French Reference Center of Lysosomal Diseases, were retrospectively evaluated. Demographic characteristics, frequency, type and site of the relevant skeletal event were recorded.

Forty-four patients, 41 type 1 and three type 3 GD, entered the study. Bone involvement, present in 32% of the patients, was the second most frequent presenting feature of the disease after hepatosplenomegaly (41%). Children with bone symptoms at presentation were significantly older than those without (9.8 vs 5.6 years). At diagnosis, 45% of patients had a positive anamnesis of skeletal symptoms (bone pain and/or bone crisis). Two thirds of patients in which X-ray were taken showed evidence of at least one bone abnormality, mainly Erlenmeyer deformity and avascular necrosis. Seventy three percent of patients had at least one major skeletal event in their clinical history; among these, 45% had the first major skeletal event in pediatric age.

Skeletal involvement is a frequent presenting feature of GD in children. Given its high prevalence, it should be carefully evaluated, in order to timely start appropriate therapy and prevent irreversible complications.