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Skeletal Radiology

, Volume 46, Issue 5, pp 701–704 | Cite as

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

  • Dilek SağlamEmail author
  • Meltem Ceyhan Bilgici
  • Tümay Bekçi
  • Canan Albayrak
  • Davut Albayrak
Case Report
  • 240 Downloads

Abstract

Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated.

Keywords

Autosomal recessive osteopetrosis Encephaloceles MRI Volume rendering computed tomography 

Notes

Compliance with ethical standards

Conflicts of interest

The authors declared that they have no conflicts of interest.

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Copyright information

© ISS 2017

Authors and Affiliations

  • Dilek Sağlam
    • 1
    Email author
  • Meltem Ceyhan Bilgici
    • 1
  • Tümay Bekçi
    • 1
  • Canan Albayrak
    • 2
  • Davut Albayrak
    • 2
  1. 1.Department of Radiology, School of MedicineOndokuz Mayıs UniversityKurupelit, SamsunTurkey
  2. 2.Department of Pediatrics, School of MedicineOndokuz Mayıs UniversityKurupelit, SamsunTurkey

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