Camurati-Engelmann disease

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD), is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.

Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly 5.

In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.

Distribution

Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.

Plain radiograph
  • there is fusiform bony enlargement with sclerosis in long bones 6
  • the epiphyses are spared
Bone scintigraphy
  • affected regions show high uptake with Tc99-MDP bone scintigraphy representing osteoblastic activity 4
Complications

Named after 2, 3:

  • M Camurati, Italian physician
  • G Engelmann, German physician

General imaging differential considerations include:

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Article Information

rID: 10851
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Progressive diaphyseal dysplasia
  • Progressive diaphyseal dysplasia (PDD)
  • Camurati-Engelmann disease (CED)
  • Camurati Engelmann disease

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    Case 1: tibia and fibula
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    Case 1: skull CT
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