Imaging in osteopetrosis

Alistair D. Calder; Sophie Arulkumaran; Felice D'Arco

doi:10.1016/j.bone.2022.116560

Imaging in osteopetrosis

Alistair D. Calder^*, Sophie Arulkumaran, Felice D'Arco

^*Corresponding author for this work

Centre for the Developing Brain

Great Ormond Street Hospital for Children NHS Foundation Trust

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease. Imaging can also identify major complications, including fractures and neurological compromise. We review the pathophysiological basis for the imaging findings in osteopetrosis, focusing on the impact of loss of various osteoclast functions leading to elevated bone density, hyperostosis, modelling abnormalities and bone fragility. We give an overview of the specific imaging findings, both skeletal and neuroradiological, in the spectrum of osteopetrotic disorders, including in the related entities of pyknodysostosis and dysosteosclerosis. We also explore potential radiological differential diagnoses.

Original language	English
Article number	116560
Journal	Bone
Volume	165
Early online date	15 Sept 2022
DOIs	https://doi.org/10.1016/j.bone.2022.116560
Publication status	Published - Dec 2022

Keywords

Imaging
Osteopetrosis
RADIOLOGY

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.bone.2022.116560

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title = "Imaging in osteopetrosis",

abstract = "Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease. Imaging can also identify major complications, including fractures and neurological compromise. We review the pathophysiological basis for the imaging findings in osteopetrosis, focusing on the impact of loss of various osteoclast functions leading to elevated bone density, hyperostosis, modelling abnormalities and bone fragility. We give an overview of the specific imaging findings, both skeletal and neuroradiological, in the spectrum of osteopetrotic disorders, including in the related entities of pyknodysostosis and dysosteosclerosis. We also explore potential radiological differential diagnoses.",

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AU - Calder, Alistair D.

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AU - D'Arco, Felice

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AB - Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease. Imaging can also identify major complications, including fractures and neurological compromise. We review the pathophysiological basis for the imaging findings in osteopetrosis, focusing on the impact of loss of various osteoclast functions leading to elevated bone density, hyperostosis, modelling abnormalities and bone fragility. We give an overview of the specific imaging findings, both skeletal and neuroradiological, in the spectrum of osteopetrotic disorders, including in the related entities of pyknodysostosis and dysosteosclerosis. We also explore potential radiological differential diagnoses.

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KW - RADIOLOGY

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Imaging in osteopetrosis

Abstract

Keywords

UN SDGs

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