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Osteopetrosis in the pediatric patient: what the radiologist needs to know

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Abstract

Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical and radiographic severity. The classic autosomal dominant subtype emerges most often in adolescence but can present from infancy through adulthood. The autosomal recessive osteopetrosis, or “malignant infantile osteopetrosis,” presents in infancy with a grimmer prognosis, though the autosomal dominant forms (often mislabeled as “benign”) actually can have life-threatening consequences as well. Often osteopetrosis is detected due to skeletal findings on radiographs performed to evaluate injury or as an incidental finding during evaluation for illness. Given the varied phenotypic severity and presentations at different ages, radiologists play an integral role in the care of these patients both in diagnosis and in clinical evaluation and monitoring. A deeper understanding of the underlying genetic basis of the disease can aid in the radiologist in diagnosis and in anticipation of unique complications. An overview of current clinical management is also discussed.

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Funding

We would like to acknowledge funding under NIAMS/NIH R01AR077869 and R01AR084202.

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Authors and Affiliations

  1. Department of Radiology and Imaging Sciences, Indiana University School of Medicine, 550 N University Boulevard, Room 0063, Indianapolis, IN, 46202, USA

    Morgan N. McLuckey

  2. Department of Medicine and Pediatrics, Indiana University School of Medicine, 1120 W. Michigan Street, Room 380, Indianapolis, IN, 46202, USA

    Erik A. Imel

  3. Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Riley Hospital for Children, 705 Riley Hospital Drive, Room 1053, Indianapolis, IN, 46202, USA

    Monica M. Forbes-Amrhein

Authors
  1. Morgan N. McLuckey
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  2. Erik A. Imel
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  3. Monica M. Forbes-Amrhein
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Contributions

MNM drafted the initial manuscript and collected imaging examples.

EAI provided clinical expertise in the drafting of the manuscript.

MFA conceived the manuscript idea and supervised its drafting and revisions.

All authors reviewed and approved the final manuscript.

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Correspondence to Morgan N. McLuckey.

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McLuckey, M.N., Imel, E.A. & Forbes-Amrhein, M.M. Osteopetrosis in the pediatric patient: what the radiologist needs to know. Pediatr Radiol (2024). https://doi.org/10.1007/s00247-024-05899-4

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  • DOI: https://doi.org/10.1007/s00247-024-05899-4

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