Camurati-Engelmann's disease (CED) is a rare disorder worldwide with just over 200 cases reported. No case of CED has been reported in Afghanistan till date. Most patients of CED (also known as progressive diaphyseal dysplasia and oeteopathica hyperostotica multiplex infantalis) present with extremity pain, muscle weakness, and waddling gait. It tends to be bilateral and symmetrical and can aff...

introduction camurati-engelmann disease (ced) is a rare autosomal dominant disease with various phenotypic expressions. the symptoms usually develop during childhood. the hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. the epiphysis is strictly spared. the common clinical symptoms are pain of the extremitie...

Background Camurati-Engelmann disease (CED) is a rare osteosclerotic autosomal dominant condition responsible for chronic diaphyseal pain. It caused by mutations of Tumor Growth Factor β1 (TGFβ1 ) gene. Currently there are no validated therapies this condition. Objectives To test the efficacy anti-TNFα antibody in patient affected CED. Methods Etanercept 50 mg per week was administered with Dat...

This 42 year old woman had a history of delayed motor development, chronic muscle fatigue and gait disturbance. Her mother and mother’s brother suffered from similar symptoms. At the age of 20 she was diagnosed with Camurati-Engelmann syndrome. At that time she started to suffer from fluctuating tinnitus in the right ear and attacks of rotational vertigo lasting hours. The vertigo was accompani...