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Case Reports: Rare disease
Osteopetrosis with Arnold Chiari malformation type I
  1. Alamelu Alagappan1,
  2. Amit Kumar Satpathy2,
  3. Biswajit Sahoo1 and
  4. Manoj Kumar Nayak1
  1. 1Radiodiagnosis, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Odisha, India
  2. 2Department of pediatrics, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, Orissa, India
  1. Correspondence to Dr Manoj Kumar Nayak; tuna.manoj{at}gmail.com

Abstract

Osteopetrosis is a rare genetic disorder resulting in increased bone density and decreased bone remodelling. Bone expansion results in the crowding of neural foramina causing cranial nerve compression. Here, we describe a female infant in her mid infancy presented with no eye contact since birth, and abdominal distension for 2 months. On CT evaluation, sclerotic bones with bilateral optic canal narrowing were present. A crowded posterior fossa with Arnold Chiari type I malformation was seen on MRI evaluation, suggesting a rare association of osteopetrosis with Arnold Chiari’s malformation.

  • neuroimaging
  • radiology
  • paediatric prescribing
  • congenital disorders

https://doi.org/10.1136/bcr-2023-254559

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    Footnotes

    • Contributors Drafting of the text, sourcing and editing of clinical images: AA, MKN. Results: BS. Critical revision for important intellectual content: AKS. Final approval of the manuscript: MKN and AKS.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.