Camurati-Engelmann disease – A case report of a rare diaphyseal dysplasia

Abstract

Background: Camurati Engelmann disease is an uncommon genetic disorder affecting mainly the diaphysis of long bones. The rarity of this disease and the reduced availability of literature often creates a diagnostic confusion among the treating physicians. Here, we present a case report of this rare dysplastic bone disorder, and outline the treatment and follow up of the patient. Case report: A 24-year-old Asian male with chronic pain over bilateral lower limbs and frequent headaches for a period of 3 years and 1 year respectively, presented with a new onset pain over small joints of the hand. He had marfanoid habitus, with tenderness over upper limb joints. Investigations were suggestive of a sclerotic bone disease with enhanced tracer uptake along the cortical borders of long bones on spect CT bone scan. Conclusion: The rarity of genetic disorders of bone can be diagnostically challenging. CED should be suspected in subjects with multiple long bone pain with proximal muscle weakness, supported by radiological evidence of cortical hyperostosis of long bones. Treatment with zoledronic acid improves the pain and standard of living in such patients.

Keywords

• Camurati Engelmann disease (CED)
• Genetic disorders
• Sclerotic bone disease
• Chronic bone pain
• Zoledronic acid