title: Bone mineral density in mucopolysaccharidosis IVB.
abstract: To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumbar spine (LS), and lateral distal femur (LDF). Functional abilities, ambulatory status, medical history, and height z-score were evaluated. Three patients with MPS IVB (two females), aged 17.7, 31.4 and 31.7 years, were evaluated. Every patient was ambulatory and one sustained two fractures caused by trauma. Whole body and hip DXA scans were technically invalid in every patient due to the presence of prosthetic hip hardware. Lumbar spine was valid in only 1 patient due skeletal abnormalities, and was normal (Z-score of - 0.8). The LDF was valid in every patient and was low at all three regions of interest: average LDF z-scores were - 3.1 (range, - 2.9 to - 3.6), - 2.3 (range, - 2.0 to - 2.5), and - 2.1 (range, - 2.0 to - 2.3) for region 1-region 3, respectively. Patients with MPS IVB have low BMD of the lower extremities even with full-time ambulation. Routine body sites to measure by DXA were problematic; hip and WB were invalid due to artifact, and LS had limited utility. The LDF was the only body site consistently available on all patients. Patients did not experience low-energy fractures despite low BMD.
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, 118 Wolf Hall, Newark, DE 19716, USA.
authors.forename: Francyne
authors.initials: F
authors.lastname: Kubaski
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.
authors.forename: Heidi H
authors.initials: HH
authors.lastname: Kecskemethy
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Radiology and Pediatrics, Jefferson Medical College, Thomas Jefferson University, 901 Walnut St, Philadelphia, PA 19107, USA.
authors.forename: H Theodore
authors.initials: HT
authors.lastname: Harcke
authors.affiliation: Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA; Department of Biological Sciences, University of Delaware, 118 Wolf Hall, Newark, DE 19716, USA.
authors.forename: Shunji
authors.initials: S
authors.lastname: Tomatsu
keywords: BMD, bone mineral density; Bone mineral density; DXA, dual energy X-ray absorptiometry; Dual-energy X-ray absorptiometry; GAGs, glycosaminoglycans; GLB1, betagalactosidease; HAZ, height-adjusted Z-score; HGMD, The Human Gene Mutation Database; KS, keratan sulfate; LDF, lateral distal femur; LS, lumbar spine; Lateral distal femur dual-energy X-ray absorptiometry; MPS IVB, mucopolysaccharidosis type IV B; Mucopolysaccharidosis type B; NHANES, National Health and Nutrition Survey; WB, whole body