title: Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds.
abstract: OBJECTIVE
  To evaluate radiological findings in a cohort of 22 patients with infantile malignant osteopetrosis in order to establish the correlation between radiological findings and different genetic backgrounds.
  
  
  METHODS
  Clinical files, genetic analysis results, and radiological examinations of children treated for osteopetrosis with bone marrow transplantation in a referral center in the last 5 years were retrospectively evaluated. The study received institutional review board (IRB) approval.
  
  
  RESULTS
  Twenty-two patients were included in the study: 18 males, four females, ages 1 month-9 years 10 months, and the median age was 11 months (mean 23 months). There were 12 patients with different mutations in the TCIRG1 gene, five with mutations in the SNX10 gene, four children harbored RANK mutations, and one patient had a CLCN7 mutation. We noted more severe radiological findings in patients with TCIRG1 and RANK mutations, including fractures, osteopetrorickets, hydrocephalus, and hepatomegaly. Varus deformity of the femoral neck was seen exclusively in patients with a TCIRG1 mutation.
  
  
  CONCLUSIONS
  The variable genetic spectrum of osteopetrosis is associated with a variable radiological presentation. These correlations may be helpful for priorities in genetic analysis.
authors.affiliation: Department of Medical Imaging, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Natalia
authors.initials: N
authors.lastname: Simanovsky
authors.affiliation: Department of Medical Imaging, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Katya
authors.initials: K
authors.lastname: Rozovsky
authors.affiliation: Department of Medical Imaging, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Nurith
authors.initials: N
authors.lastname: Hiller
authors.affiliation: Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Michael
authors.initials: M
authors.lastname: Weintraub
authors.affiliation: Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Polina
authors.initials: P
authors.lastname: Stepensky
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005272:Femur Neck / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010022:Osteopetrosis / Q000000981:diagnostic imaging* / Q000235:genetics; D053246:Receptor Activator of Nuclear Factor-kappa B / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D058305:Sorting Nexins / Q000235:genetics; D014057:Tomography, X-Ray Computed; D025262:Vacuolar Proton-Translocating ATPases / Q000235:genetics
chemical_list: D053246:Receptor Activator of Nuclear Factor-kappa B; C516568:SNX10 protein, human; D058305:Sorting Nexins; C472421:TCIRG1 protein, human; C505686:TNFRSF11A protein, human; D025262:Vacuolar Proton-Translocating ATPases
keywords: genetic defects; infantile malignant osteopetrosis; radiological findings