MyPACS.net: Radiology Teaching Files > Case 6269672

previously visited 12 YEAR OLD FEMALE WITH HISTORY OF OSTEOPETROSIS
Contributed by: Grace Kalish, Resident, University of Washington, Washington, USA.
Patient: 12 year old female
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Fig. 1: There is abnormal and diffuse sclerosis, osteopathia striatum and under-tubulization.
Diagnosis: Osteopetrosis
Discussion:

Osteopetrosis:

Cause:
    - defect in osteoclasts
    - osteoclasts helps in remodeling bone (allows growth and maturation of bone) as well as modeling bone (expansion of marrow cavity)
    - incidence unknown but thought to be 1/100,000 - 500.000

Types:
    - infantile : Autosomal Recessive.  Characterized by severe marrow failure and death within first decade if untreated.
    - adult onset:  Autosomal Dominant.   prognosis is better.  Usually no evidence of marrow failure.
    - intermediate (childhood):  poor prognosis, but no manifestations of marrow failure.

Clinical Presentation:
    - Infantile:

      - pancytopenia

      - cranial nerve entrapment from failure of foramina in skull to widen.  leads to deafness, proptosis etc.   hydrocephalus also common.

      - fragile bones despite sclerosis --> fractures common.

      - extramedullary hematopoiesis --> HSM, hemolysis.



Radiologic findings:
      - diffuse sclerosis
      - osteopathia striatum in iliac wings or end of long bones
      - under tubulization (Ehrlen Meyer Flask)
      - bone-in-bone appearance

Diagnosis:
     - usually based on radiographic findings alone.  biopsy not necessary.

Treatment:
    - based on trying to activate dormant osteoclasts:  Calcitrol.  Has only modest improvement
    - gamma interferon: increases bone marrow volume.  Better long term benefits.
    - EPO for anemia
    - BMT is the only definitive treatment. 
Comments:
No comments posted.
Additional Details:

Case Number: 6269672Last Updated: 08-23-2006
Anatomy: Skeletal System   Pathology: Congenital
Modality: Conventional RadiographAccess Level: Readable by all users
Keywords: osteopetrosis

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