Camurati–Engelmann disease: a case report from sub-Saharan Africa

Amos O Mwasamwaja Elifuraha W Mkwizu Elichilia R Shao Clement F Kalambo Isaack Lyaruu Ben C Hamel
Publication year: 

Camurati–Engelmann disease is a rare autosomal dominant inherited condition belonging to the group of craniotubular hyperostosis with characteristic radiological features of the diaphyses of the long bones and the skull. A 35-year-old female is reported presenting with bone pain and waddling gait, since the age of 20 years. Motor activities were limited since the age of 10 years. Palpable bones, muscle weakness and protrusion of eyes were noted. Radiologically, hyperostosis of long bones was seen. Based on history, clinical and radiological features Camurati–Engelmann disease was diagnosed. Sequence analysis of the transforming growth factor β1 (TGFB1) gene revealed a missense mutation (c.652C>T; p.Arg218Cys). She is the first molecularly confirmed case in sub-Saharan Africa. It is emphasized that Camurati–Engelmann disease is included in the differential diagnosis of persistent bone pain, but also of abnormal childhood motor development in order to avoid unnecessary investigations and inadequate management.