Visual and otological manifestation of Camurati-Engelmann's disease: a case report

Abstract

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. It has been previously reported that domain specific mutations in transforming growth factor (TGF)-β1 gene on chromosome 19q13.1 have been reported to cause this disorder.(1-3) Its pattern of inheritance is autosomal dominant with variable penetrance(4). Most patients of CED (also known as progressive diaphyseal dysplasia(PDD), oeteopathica hyperostotica multiplex infantalis) present with extremity pain, muscle weakness and waddling gait. Symptomatology relating to cranial nerve impingement is secondary to amorphous increase in the density of skull bones resulting in stenosis of various foramina/spaces within skull.  It tends to be bilateral and symmetrical and can affect any bone but has greater affinity for long bones e.g. humerus, femur, tibia, ulna and radius. Other common sites include skull and pelvis.(5, 6)