Bone disease in early detected Gaucher Type I disease: A case report

Abstract

Gaucher disease (GD) is a lysosomal disorder characterized by the storage of glucosylceramide in macrophages (“Gaucher cells”), particularly in the spleen, liver, and bone marrow. The most common phenotype, GD type 1, usually presents with hepatosplenomegaly, cytopenias, and sometimes bone involvement at variable age. Enzyme replacement therapy (ERT) is available and effective, but some severe manifestations are irreversible (e.g., osteonecrosis), so that early treatment is crucial. We describe a 4‐year‐old Albanian male with GD type 1, diagnosed through newborn screening (NBS), presented during follow up with multiple osteonecrotic areas in both femurs. He had no other symptoms or signs of disease, except for increasing of lyso‐Gb1 biomarker. Early initiation of ERT allowed a partial improvement of bone lesions. Our case highlights the importance of NBS for GD and of close follow‐up of presymptomatic patients, especially if biomarker levels are increasing. In the absence of NBS, GD should be considered in patients who present with bone lesions, also isolated. Early diagnosis and treatment improve the course of disease and avoid irreversible sequelae.

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

“…Four GD1 patients developed signs of disease at a mean age of 3 years (range 2–4 years). Three patients developed hepatosplenomegaly and one patient developed bilateral femur osteonecrosis [ 30 ]. All started ERT, with good clinical and biochemical outcomes.…”

Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review

“…Stunted growth is also observed. [10][11][12][13] Initial diagnosis is not straightforward because the symptoms overlap with other diseases. Blood test abnormalities (cytopenia, mainly thrombocytopenia, and anemia), along with clinical signs, especially splenomegaly and distinct bone pathology (►Table 2) (especially osteopenia, signs of bone marrow replacement at MRI, and bone infarcts).…”

“…A definitive diagnosis is based on the measurement of acid β-glucocerebrosidase enzyme activity levels and confirmed by molecular analysis. [12][13][14] Different bone imaging modalities are used to detect skeletal manifestations in GD, assess disease burden, the presence of complications, and monitor response to treatment. Plain radiography is mainly used to detect bone complications such as fractures and deformities.…”

“…A definitive diagnosis is based on the measurement of acid β-glucocerebrosidase enzyme activity levels and confirmed by molecular analysis. 12 13 14…”