A Case of Camurati-Engelmann Disease that Required Psychosocial Follow-up

Abstract

A 6-year-old boy visited our hospital due to gait disturbance. X-ray showed bilateral cortical thickening and irreg-ularity at the diaphysis of long bones, and 99m Tc-HMDP bone scintigram showed remarkable accumulation consistent with the lesions. A genetic analysis of TGFB1 revealed a heterozygous R218C variant. Taken together, he was diag-nosed with Camurati-Engelmann disease. Walking problems and muscle weakness made it difficult for him to partici pate in gym activities as well as playing outside with his classmates. This led him to feel excluded and inferior to others. Gradually he became withdrawn, and required psychologic intervention by his school counselors and psycho-therapists. Camurati-Engelmann disease is known to have a good prognosis ； however, psychosocial follow-up is also mandatory.