title: Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles.
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.
authors.affiliation: Department of Radiology, School of Medicine, Ondokuz Mayıs University, Kurupelit, Samsun, Turkey. dilekuzman@hotmail.com.
authors.forename: Dilek
authors.initials: D
authors.lastname: Sağlam
authors.affiliation: Department of Radiology, School of Medicine, Ondokuz Mayıs University, Kurupelit, Samsun, Turkey.
authors.forename: Meltem Ceyhan
authors.initials: MC
authors.lastname: Bilgici
authors.affiliation: Department of Radiology, School of Medicine, Ondokuz Mayıs University, Kurupelit, Samsun, Turkey.
authors.forename: Tümay
authors.initials: T
authors.lastname: Bekçi
authors.affiliation: Department of Pediatrics, School of Medicine, Ondokuz Mayıs University, Kurupelit, Samsun, Turkey.
authors.forename: Canan
authors.initials: C
authors.lastname: Albayrak
authors.affiliation: Department of Pediatrics, School of Medicine, Ondokuz Mayıs University, Kurupelit, Samsun, Turkey.
authors.forename: Davut
authors.initials: D
authors.lastname: Albayrak
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D004677:Encephalocele / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D010022:Osteopetrosis / Q000150:complications* / Q000000981:diagnostic imaging*; D012272:Ribs / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
keywords: Autosomal recessive osteopetrosis; Encephaloceles; MRI; Volume rendering computed tomography