Imaging Pearls ❯ Musculoskeletal ❯ Osteopetrosis
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- “Osteopetrosis, translated as “stone bone,” is a rare inherited bone disease. It is also known as marble bone disease where bones harden and become abnormally dense, opposite to osteoporosis where bones become less dense and more brittle, or osteomalacia where bones soften. Various modalities of imaging have been shown to be useful in detecting and diagnosing osteopetrosis.”
Osteopetrosis: radiological & radionuclide imaging.
Sit C, Agrawal K, Fogelman I, Gnanasegaran G.
Indian J Nucl Med. 2015 Jan-Mar;30(1):55-8. - “Autosomal dominant osteopetrosis (ADO) is also known as Albers-Schönberg disease after first being described in 1904. Typically in the mildest form of the disorder, affected individuals may show no symptoms. The incidence is 1:20000, and a mutation in the CLCN7 gene is responsible for 75% of ADO. Due to its benign symptoms, ADO is usually discovered by accident when X-ray is done for another reason. Clinical manifestations become apparent in late childhood or adolescence; symptoms include: Multiple bone fractures, scoliosis, arthritis, and osteomyelitis.”
Osteopetrosis: radiological & radionuclide imaging.
Sit C, Agrawal K, Fogelman I, Gnanasegaran G.
Indian J Nucl Med. 2015 Jan-Mar;30(1):55-8. - "Computed tomography scan often shows increased area of bone density “bone-in-bone”, appearance in the vertebrae and phalanges, and sometimes focal sclerosis of skull base, pelvis and vertebral end plates, giving rise to “sandwich” vertebrae, and “rugger-jersey” spine .”
Osteopetrosis: radiological & radionuclide imaging.
Sit C, Agrawal K, Fogelman I, Gnanasegaran G.
Indian J Nucl Med. 2015 Jan-Mar;30(1):55-8. - “Osteopetrosis is a group of rare bone disorders, within the family of sclerosing bone dysplasias, characterized by reduced osteoclastic bone resorption that results in a high bone mass. Rather than conferring strength, the overly dense bone architecture belies a structural brittleness that predisposes to fracture. The disruption of normal bone modeling and remodeling can give rise to skeletal deformity and dental abnormalities and can interfere with mineral homeostasis. In addition, expansion of bone into marrow cavities and cranial nerve foramina can compromise hematologic and neurologic function, respectively; the former may manifest as profound anemia, bleeding, frequent infections, and hepatosplenomegaly from extramedullary hematopoiesis. The latter can lead to blindness, deafness, and nerve palsies.”
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group,
Calvin C Wu, et al.
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 9, 1 September 2017, Pages 3111–3123 - “Osteopetrosis, derived from the Greek words for "bone" ("osteo") and "stone" ("petros"), is a fitting name for a disease in which generalized osteosclerosis identifiable on standard radiographs is pathognomonic. Parallel bands of dense bone can give the appearance of “bone-within-bone” or “endobones.” This finding is often prominent in the pelvis, long bones, phalanges, and vertebrae. Vertebrae can also be uniformly dense or take on a “sandwich vertebrae” or “rugger-jersey” appearance (when a normal-appearing vertebral midbody is sandwiched between dense bands along the superior and inferior endplates).”
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group,
Calvin C Wu, et al.
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 9, 1 September 2017, Pages 3111–3123