Marble Bone Disease

Todayโ€™s path rounds are on ๐ฆ๐š๐ซ๐›๐ฅ๐ž ๐›๐จ๐ง๐ž ๐๐ข๐ฌ๐ž๐š๐ฌ๐ž, also known as ๐จ๐ฌ๐ญ๐ž๐จ๐ฉ๐ž๐ญ๐ซ๐จ๐ฌ๐ข๐ฌ!

๐–๐ก๐š๐ญ ๐ข๐ฌ ๐ข๐ญ?
๐Ž๐ฌ๐ญ๐ž๐จ๐ฉ๐ž๐ญ๐ซ๐จ๐ฌ๐ข๐ฌ literally means โ€œstone boneโ€, and is a condition where the ๐จ๐ฌ๐ญ๐ž๐จ๐œ๐ฅ๐š๐ฌ๐ญ๐ฌ, cells that normally break down bone tissue, are defective. Because of this defect, boney tissue begins to take over the bone marrow cavity.

๐–๐ก๐จ ๐ ๐ž๐ญ๐ฌ ๐ข๐ญ?
Any species can get this!

๐–๐ก๐š๐ญ ๐œ๐š๐ฎ๐ฌ๐ž๐ฌ ๐ข๐ญ?
Most forms of osteopetrosis seen in our veterinary species are thought to be ๐ข๐ง๐ก๐ž๐ซ๐ข๐ญ๐ž๐, due to certain breeds being primarily affected. For example, in cattle, osteopetrosis is most commonly seen in Angus.

Ultimately, the genetic defect causing osteopetrosis most often affects the ๐ฉ๐ซ๐จ๐ญ๐จ๐ง ๐ฉ๐ฎ๐ฆ๐ฉ๐ฌ or ๐œ๐ก๐ฅ๐จ๐ซ๐ข๐๐ž ๐œ๐ก๐š๐ง๐ง๐ž๐ฅ๐ฌ of the osteoclasts, which are both needed to allow the osteoclast to produce acid. This acid is normally what is used to break down the mineral of the bone to allow the osteoclast to carry out its day-to-day function.

๐–๐ก๐ฒ ๐ข๐ฌ ๐ญ๐ก๐ข๐ฌ ๐š ๐ฉ๐ซ๐จ๐›๐ฅ๐ž๐ฆ?
Typically osteopetrosis results in bones that are shorter than normal, and that are very fragile and prone to fracturing. In some cases, the bones may be so fragile that the animal is unable to stand without fracturing a limb. As you can imagine, this is not very conducive to a long and productive life, so these animals are often euthanized.

๐‡๐จ๐ฐ ๐ข๐ฌ ๐ข๐ญ ๐๐ข๐š๐ ๐ง๐จ๐ฌ๐ž๐?
The veterinarian can best diagnose this disease by taking an X-ray, which will show replacement of the normal bone marrow cavity with dense boney tissue.

๐‡๐จ๐ฐ ๐ข๐ฌ ๐ข๐ญ ๐ญ๐ซ๐ž๐š๐ญ๐ž๐?
As mentioned, this disease has a very poor prognosis, and unfortunately there is no treatment.

๐๐ก๐จ๐ญ๐จ๐ฌ
1) An X-ray of osteopetrosis. Normally you can see a ๐ซ๐š๐๐ข๐จ๐ฅ๐ฎ๐œ๐ž๐ง๐ญ (grey) area in the middle of each bone.
2) A comparison of a bone with osteopetrosis (bottom) to a normal bone.
3-6) More examples of bones with osteopetrosis!

๐’๐จ๐ฎ๐ซ๐œ๐ž๐ฌ
Maxie, G. Jubb, Kennedy and Palmerโ€™s Pathology of Domestic Animals, Volume 1. Sixth Edition.

Photos 1-5 ยฉ Noahโ€™s Arkive contributor Crowell, Nation, Leipold licensed under CC BY-SA 4.0.

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