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Juvenile Osteopetrosis

Case Detail

Anatomy: Musculoskeletal
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 10 years ago
Updated: over 10 years ago
Tags: PEDS
Modality/Study Types: CR
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12 year old female with anemia.

Case Images


Juvenile Osteopetrosis


CR – Diffuse osteosclerosis with medullary obliteration. Note the expanded metaphyses (Erlenmeyer flask deformity) of the long bones.


Juvenile osteopetrosis is a heterogeneous group of genetic disorders related to impaired resorption of bone by osteoclasts and characterized by sclerosis (increased bone mineral content)and hyperostosis (increased bone mass), abnormal bone modeling and strength, and marrow failure.

Patients may present with multiple fractures during childhood, poor dentition associated with facial osteomyelitis, or anemia. Long-term complications of the disease include poor fracture healing, premature osteoarthritis, scoliosis, cranial neuropathy (related to foraminal stenosis) and increased incidence of infections. Treatment is largely supportive; cranial nerve decompression, vitamin D therapy and bone marrow transplantation may be helpful in certain circumstances.

Distinction between the various forms of juvenile osteopetrosis is by phenotypic distribution of osseous disease, biochemical parameters (e.g., alkaline phosphatase levels, presence of renal tubular acidosis), genetic studies, and association with other osseous dysplasia (e.g., short limb dwarfism, osteolysis).


Spranger JW, Brill PW, Poznanski AK. Bone Dysplasias, 2nd Ed. Oxford University Press (2002).

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