Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

Saglam D., Bilgici M. C., Bekci T., Albayrak C., Albayrak D.

SKELETAL RADIOLOGY, vol.46, no.5, pp.701-704, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.1007/s00256-017-2595-8
  • Journal Name: SKELETAL RADIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.701-704
  • Bursa Uludag University Affiliated: No

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.