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A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome

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Abstract

Background

Progeria is a rare segmental premature aging disease with significant skeletal abnormalities. Defining the full scope of radiologic abnormalities requires examination of a large proportion of the world’s progeria population (estimated at 1 in 4 million). There has been no comprehensive prospective study describing the skeletal abnormalities associated with progeria.

Objective

To define characteristic radiographic features of this syndrome.

Materials and methods

Thirty-nine children with classic progeria, ages 2–17 years, from 29 countries were studied at a single site. Comprehensive radiographic imaging studies were performed.

Results

Sample included 23 girls and 16 boys—the largest number of patients with progeria evaluated prospectively to date. Eight new and two little known progeria-associated radiologic findings were identified (frequencies of 3–36%). Additionally, 23 commonly reported findings were evaluated. Of these, 2 were not encountered and 21 were present and ranked according to their frequency. Nine abnormalities were associated with increasing patient age (P = 0.02–0.0001).

Conclusion

This study considerably expands the radiographic morphological spectrum of progeria. A better understanding of the radiologic abnormalities associated with progeria and improved understanding of the biology of progerin (the molecule responsible for this disease), will improve our ability to treat the spectrum of bony abnormalities.

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Acknowledgments

We are grateful to the children with progeria and their families for their participation in this study. We thank the Family Inn (Cambridge, MA) and Devon Nicole House (Boston, MA) for housing families; Susan Campbell, MS, Nancy Wolf-Jenssen, and Nancy Grossman for medical records coordination; and Kyra Johnson, Kelly Littlefield, Kiera McKendrick, Angela Kraybill, and William Fletcher for coordinator services. This project was funded by The Progeria Research Foundation (PRFCLIN2007-01 and Grant #PRFCLINTRIAL003-080109), the National Heart, Lung and Blood Institute (1RC2HL101631-01), the Dana-Farber Cancer Institute Stop&Shop Pediatric Brain Tumor Program, by a National Center for Research Resources to the Children's Hospital Boston General Clinical Research Center (MO1-RR02172), and a grant from the National Center for Research Resources, National Institutes of Health, to the Harvard Catalyst Clinical & Translational Science Center (Harvard Catalyst) (UL1 RR025758-01).

Conflict of interest and disclosure

The authors declare no conflict of interest.

Author information

Authors and Affiliations

  1. Pediatric Radiology, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Robert H. Cleveland

  2. Department of Anesthesia, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

    Leslie B. Gordon & Monica E. Kleinman

  3. Department of Pediatrics, Hasbro Children’s Hospital, Warren Alpert Medical School of Brown University, Providence, RI, USA

    Leslie B. Gordon

  4. Division of Genetics, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

    David T. Miller

  5. Division of Endocrinology and Adolescent Medicine, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

    Catherine M. Gordon

  6. Department of Orthopedic Surgery, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA

    Brian D. Snyder

  7. Harvard Medical School, Boston, MA, USA

    Ara Nazarian

  8. Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA, USA

    Anita Giobbie-Hurder & Donna Neuberg

  9. Department of Biostatistics, Harvard School of Public Health, Boston, MA, USA

    Donna Neuberg

  10. Division of Pediatric Oncology, Dana-Farber Cancer Institute and Children’s Hospital Boston, Boston, MA, USA

    Mark W. Kieran

Authors
  1. Robert H. Cleveland
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  2. Leslie B. Gordon
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  3. Monica E. Kleinman
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  4. David T. Miller
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  5. Catherine M. Gordon
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  6. Brian D. Snyder
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  7. Ara Nazarian
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  8. Anita Giobbie-Hurder
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  9. Donna Neuberg
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  10. Mark W. Kieran
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Corresponding author

Correspondence to Robert H. Cleveland.

Additional information

L.B.G. is the parent of a child with HGPS who participated in this study.

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Cleveland, R.H., Gordon, L.B., Kleinman, M.E. et al. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatr Radiol 42, 1089–1098 (2012). https://doi.org/10.1007/s00247-012-2423-1

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  • DOI: https://doi.org/10.1007/s00247-012-2423-1

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