title: Long-term follow-up of skeletal dysplasia in thalassaemia major.
abstract: We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement.
authors: Department of Paediatrics, University School of Medicine, G. Gaslini Children's Hospital, Genova, Italy.
authors: A
authors: A
authors: Naselli
authors: M
authors: M
authors: Vignolo
authors: E
authors: E
authors: Di Battista
authors: P
authors: P
authors: Garzia
authors: G L
authors: GL
authors: Forni
authors: T
authors: T
authors: Traverso
authors: G
authors: G
authors: Aicardi
mesh_terms: D000293:Adolescent; D000328:Adult; D001803:Blood Transfusion; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000139:chemically induced* / Q000000981:diagnostic imaging; D003676:Deferoxamine / Q000009:adverse effects*; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000139:chemically induced; D006132:Growth Plate / Q000000981:diagnostic imaging; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007502:Iron Chelating Agents / Q000009:adverse effects*; D007717:Knee; D008297:Male; D011859:Radiography; D013122:Spinal Diseases / Q000139:chemically induced / Q000000981:diagnostic imaging; D014953:Wrist; D017086:beta-Thalassemia / Q000503:physiopathology / Q000628:therapy*
chemical_list: D007502:Iron Chelating Agents; D019382:Human Growth Hormone; D003676:Deferoxamine