Case Author(s): David A. Hillier, M.D., Ph.D. and Henry Royal, M.D. , . Rating: #D4, #Q4

Diagnosis: Engelmann's disease (progressive diaphyseal dysplasia)

Brief history:

Thirty-eight-year-old woman with a known history of a skeletal dysplasia.

Images:

Bone scintigraphy

View main image(bs) in a separate image viewer

View second image(xr). Plain film of tibia

Full history/Diagnosis is available below


Diagnosis: Engelmann's disease (progressive diaphyseal dysplasia)

Full history:

Thirty-eight-year-old woman with a known history of a skeletal dysplasia.

Radiopharmaceutical:

Bone scintigraphy, 21.1 mCi methylene diphosphonate

Findings:

1. Bone scintigraphy:

- Diffusely increased uptake throughout the skeleton. Hands and feet are relatively spared.

- Focal intense foci in skull, proximal humeri, femora and tibiae.

2. Skull, femur plain films:

- Sclerotic undertubulated bones.

- Sclerotic changes throughout the skull, especially the skull base.

- Lytic areas corresponding to foci of intense uptake on bone scan.

Discussion:

Progressive diaphyseal dysplasia (Engelmann’s disease) is hereditary. The long bones become undertubulized and the medullary cavity becomes narrowed.

Differential Diagnosis List

This appearance, with diffusely increased uptake throughout the skeleton with undertubulation of the bones is characteristic of Engelmann’s disease.

ACR Codes and Keywords:

References and General Discussion of Bone Scintigraphy (Anatomic field:Skeletal System, Category:Misc)

Search for similar cases.

Edit this case

Add comments about this case

Read comments about this case

Return to the Teaching File home page.


Case number: bs109

Copyright by Wash U MO