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JRPMS Vol 1, No 2, December 2017, p.41-44

doi: 10.22540/JRPMS-01-041


Case Report Article

Hearing loss in Camurati Engelmann disease: a case report

Anastasia K. Klagkou1, Stavroula Koutroumpi2, Constantinos Georganas3, Dimitrios Ioakimides1, Evaggelos Boulios1, Georgia Tseliou1

  1. Department of rheumatology, General Hospital of Athens "G. Gennimatas", Greece
  2. Department of endocrinology, Εvaggelismos Hospital, Athens, Greece
  3. Department of rheumatology, 251 General Airforce Hospital, Athens, Greece

Keywords: Camurati Engelmann disease, Progressive diaphyseal dysplasia, Skull thickening, Hearing loss, TGF/b mutation


Camurati-Engelmann disease (CED) is a rare autosomal dominant disease characterized by heavily thickened long bones, pelvis and skull. Deafness is a common finding, due to the compression of nerves and blood vessels by thickened skull bones, and is usually difficult to manage. Herein, we report a young female diagnosed with CED since her adolescence, with gradual deterioration of hearing of mixed type, where conservative medical treatment proved ineffective, confirming the key role of early decompressive surgery in such cases.