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  • Imaging Casebook
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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

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References

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  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

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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

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

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