EURORAD ESR

Case 8971

Radiological features of autosomal recessive osteopetrosis

Author(s)
Bulleri A, Masullo MG, Zangani M, Turturici L, Perrone E, Caramella D, Bartolozzi C
 
Patient
female, 4 month(s)
 
 
  • Figure 1
    Chest X-ray

    Rx plain chest: all the bone visible are diffusely dense and the medullry space is absent. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Thorax; Imaging Technique: Conventional radiography;
     
     
  • Figure 2
    CT scans
     

    Hepatosplenomegaly. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Abdomen; Imaging Technique: CT; Procedure: Contrast agent-intravenous; Special Focus: Pathology;

    Enlargement of anterior and posterior tracts of all the ribs. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Thorax; Imaging Technique: CT; Procedure: Diagnostic procedure; Special Focus: Pathology;

    MPR: diffuse osteosclerosis and increased bone density because of bone modelling defects. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Bones; Imaging Technique: CT; Procedure: Computer Applications-3D; Special Focus: Pathology;

    CPR: General and diffuse increased density of the vertebral bodies, with increase depth of the anterior vascular incisure. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Spine; Imaging Technique: CT; Procedure: Computer Applications-3D; Special Focus: Pathology;

    Erlenmeyer flask deformity of arm.... (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Bones; Imaging Technique: CT; Procedure: Computer Applications-3D; Special Focus: Pathology;

    ...and of the ribs. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Bones; Imaging Technique: CT; Procedure: Computer Applications-3D; Special Focus: Pathology;

    Diffuse osteosclerosis of the skull with constriction of the orbital fissure... (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Head and neck; Imaging Technique: CT; Procedure: Diagnostic procedure; Special Focus: Pathology;

    ...and of the oval foramen. (© Department of Radiology, Medical University of Pisa, Italy, 2010)

     
    Area of Interest: Head and neck; Imaging Technique: CT; Procedure: Diagnostic procedure; Special Focus: Pathology;
     
     
  • Figure 3
    Bone biopsy
     

    Bone biopsy sections shows intertrabecular spaces occupied by fibroid tissue with many haemosiderin deposits and just few haematopoietic islands... (© Department of Anatomopathology, Medical University of Pisa,...

     
    Area of Interest: Bones; Procedure: Biopsy; Special Focus: Pathology;

    ...irregularly thickened trabeculae that englobed condrioid islands. There was a distinct osteoblastic line of separation between the trabeculae. (© Department of Anatomopathology, Medical University of Pisa, Italy,...

     
    Area of Interest: Bones; Procedure: Biopsy; Special Focus: Pathology;
     
     
Rx plain chest: all the bone visible are diffusely dense and the medullry space is absent. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
Hepatosplenomegaly. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
Enlargement of anterior and posterior tracts of all the ribs. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
MPR: diffuse osteosclerosis and increased bone density because of bone modelling defects. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
CPR: General and diffuse increased density of the vertebral bodies, with increase depth of the anterior vascular incisure. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
Erlenmeyer flask deformity of arm.... (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
...and of the ribs. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
Diffuse osteosclerosis of the skull with constriction of the orbital fissure... (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
...and of the oval foramen. (© Department of Radiology, Medical University of Pisa, Italy, 2010)
 
Bone biopsy sections shows intertrabecular spaces occupied by fibroid tissue with many haemosiderin deposits and just few haematopoietic islands... (© Department of Anatomopathology, Medical University of Pisa, Italy, 2010)
 
...irregularly thickened trabeculae that englobed condrioid islands. There was a distinct osteoblastic line of separation between the trabeculae. (© Department of Anatomopathology, Medical University of Pisa, Italy, 2010)
 
 
 
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