Citation, DOI & case data
Background of osteopetrosis
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Diffuse calvarial thickening and sclerosis which elicit significant low signal intensity at all pulse sequences.
Diffuse sclerosis of the spine and facial bones.
The patient has a history of type I autosomal dominant osteopetrosis.
Autosomal dominant osteopetrosis is the less severe type of osteopetrosis and should be considered and compared with the other subtype: autosomal recessive osteopetrosis. The autosomal dominant (AD) type is less severe than its autosomal recessive (AR) mate. Hence, it is also given the name "benign" or "adult" since patients survive into adulthood (something that is unlikely with the AR type).
- type I: pronounced osteosclerosis of cranial vault with clinical presentation as cranial nerve palsies
- type II: end plate thickening of vertebrae (sandwich vertebra) and endobones ("bone-within-bone" appearance) in pelvis, increased risk of fracture
Differential diagnosis of diffuse calvarial thickening is listed in this article:
3 articles feature images from this case
13 public playlists include this case
- RANZCR 2018 practice set 18 - Neuro by Yuranga Weerakkody ◉
- MSK practice set 2 - intermediate - complete by Western Australian Radiology Training
- Neuro (part 4) (part 1) by Taimur
- Systemic disease by Brittany
- 1 by Lech Gradziński
- paeds 3 by Kevin Sheng
- MSK (part 2) by Taimur
- my msk study group by Mohamed Abo Bakr
- Skull by Dalia Ibrahim ◉
- 2016 Fall Resident Session by Hector Rivera-Melo
- Head & Neck by Mohammad Farghali Ali Tosson
- GK - MSK - Diffuse bone disease by GLK
- MSK bone thickening-calvaria by Ali Labeeb Alwan