Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Imaging Casebook
  • Published:

Imaging Case Book

Infantile autosomal-recessive malignant osteopetrosis

Journal of Perinatology volume 27, pages 455–456 (2007)Cite this article

The skeletal examination demonstrates diffuse bone sclerosis, metaphyseal lucency with ricket-like changes, bone-within-bone appearance in the hand and foot phalanges and splenomegaly, which was confirmed in the abdominal sonogram. The CT coronal reconstructions demonstrate significant narrowing of the optic foramina and the MRI demonstrates a narrow crowded foramen magnum with moderate hydrocephalus, ultimately requiring shunting. These are changes of infantile autosomal-recessive malignant osteopetrosis (IARMO).

IARMO is a rare and genetically heterogeneous disease due to absent or dysfunctional osteoclasts. The disease usually presents within the first few months of life with anemia, hepatosplenomegaly, frontal bossing, nystagmus, blindness, deafness and bone fractures.1 The absence of functioning osteoclasts leads to dense but fragile bones. The dense bones encroach upon marrow cavities causing anemia, thrombocytopenia and extramedullary hematopoiesis with hepatosplenomegaly. The rachitic changes are due to inability to access calcium stores because of osteoclast dysfunction. Neurological complications are common, especially blindness, deafness, ventriculomegaly, proptosis, and narrowing of the carotid artery in the carotid canal and the internal jugular vein at the jugular foramen.2

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on SpringerLink
  • Instant access to the full article PDF.

USD 39.95

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

References

  1. DelFattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M et al. Clinical, genetic and cellular analysis of 490 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet 2006; 43: 315–325.

    Article  CAS  Google Scholar 

  2. Steward CG . Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003; 29: 87–97.

    Article  CAS  Google Scholar 

  3. Bateman W, van Wesenbeeck L, van Hul W . Clinical and molecular overview of the human osteopetroses. Calcif Tissue Int 2005; 77: 263–274.

    Article  Google Scholar 

  4. Costelloe CM, Eftekfari F, Petropoulos D . Radiography of successful bone marrow transplantation for osteopetrosis. Skeletal Radiol 2006 (E-pub ahead of print).

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis Children's Hospital, St Louis, MO, USA

    T E Herman & M J Siegel

Authors
  1. T E Herman
    View author publications

    Search author on:PubMed Google Scholar

  2. M J Siegel
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to T E Herman.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Herman, T., Siegel, M. Infantile autosomal-recessive malignant osteopetrosis. J Perinatol 27, 455–456 (2007). https://doi.org/10.1038/sj.jp.7211743

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/sj.jp.7211743

This article is cited by

Search

Advanced search

Quick links