Early diagnosis of camurati–engelmann disease, also known as progressive diaphyseal dysplasia: detection of a causative mutation by whole genome sequencing

A description of a patient with a rare form of Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, manifested by gait disturbance, pain in the limbs and muscle weakness is presented. It is only ca. 300+ patients with this disease have been described worldwide to date. It was discovered in various ethnic groups regardless of gender. A clinical case observation of this disease with molecular genetic confirmation of the diagnosis is presented for the first time in a Russian language scientific periodical. Establishing an accurate diagnosis in the described observation became possible only thanks to the use of a modern molecular genetic method, Next-generation sequencing (NGS). The clinical case observed in the article showed non-specificity of symptoms in this disease. It would be impossible to establish an accurate diagnosis without the use of top notch, modern genetic technologies in this case. The absence of specific symptoms coupled with the late manifestation of the disease suggest that not all of the cases of this disease are detected and diagnosed.