Work

Whole‐Body Magnetic Resonance Imaging in Camurati–Engelmann Disease

Year: 2020

Type: article

Abstract: We commend Hughes and colleagues (1) for their study entitled "Observations on the Natural History of Camurati-Engelmann Disease", published in the Journal of Bone and Mineral Research.In this study, 10 members of a family carrying a common TGFB1 gene mutation had their symptoms evaluated and both skeletal radiographs and scintigraphies performed.Here, we propose a potential role for whole-body magnetic resonance imaging (WB-MRI) in evaluations of Camurati-Engelmann disease.A 7-year-old female child presented with chronic fatigue, muscle weakness, and hypotonia, especially in the shoulder and pelvic girdle.Her blood count and serum levels of calcium, potassium, sodium, phosphate, and creatine kinase were normal.

Source: JBMR Plus

DOI: 10.1002/jbm4.10357

Authors: Diogo Goulart Corrêa, Clarissa Canella, Alexandra Prufer de Queiroz Campos Araújo, Silvana Mendonça, Flavia Martins Costa

Institutions: Universidade Federal Fluminense, Hospital Universitário Antônio Pedro, Universidade Federal do Rio de Janeiro

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,500