Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature

BMJ Case Rep. 2022 May 12;15(5):e246789. doi: 10.1136/bcr-2021-246789.


Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases. Case report investigative methods include genetic testing, CT facial bones and MRI scan, orthopantogram and bone biopsies. An initial suspected diagnosis of DSS with chronic osteomyelitis was made. However, following genetic testing, a diagnosis of OMD was confirmed. Our patient underwent a surgical debulking procedure and antibiotic treatment. Less than 10 patients with this condition have been reported within the international literature. There is a wide range of presentation. OMD, DSS and osteomyelitis are all within a similar spectrum of bone conditions. Our understanding, regarding OMD, remains limited and, hence, further research is required to elucidate a thorough clinical picture.

Keywords: Genetics; Haematology (incl blood transfusion); Oral and maxillofacial surgery; Paediatrics.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Edema / complications
  • Humans
  • Mandibular Diseases* / complications
  • Mandibular Diseases* / diagnostic imaging
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / diagnostic imaging
  • Osteomyelitis* / complications
  • Osteomyelitis* / diagnostic imaging
  • Osteosclerosis* / diagnostic imaging

Supplementary concepts

  • Dysosteosclerosis
  • Pyle disease