Autosomal dominant osteopetrosis

Bollerslev, Jens; Grodum, Ellen; Grøntved, Ågot Møller

doi:10.1017/s0022215100103287

Cited by 20 publications

(31 citation statements)

References 16 publications

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“…In the benign adult types, two different phenotypes exist [96]. In Type 1 phenotype, there is cranial vault osteosclerosis without involvement of the skull base and limited involvement of the appendicular skeleton and spine [96].…”

Section: Radiologic Featuresmentioning

confidence: 99%

“…In Type 1 phenotype, there is cranial vault osteosclerosis without involvement of the skull base and limited involvement of the appendicular skeleton and spine [96]. In Type 2, diffuse osteosclerosis with involvement of the skull base is noted.…”

Section: Radiologic Featuresmentioning

confidence: 99%

“…In Type 2, diffuse osteosclerosis with involvement of the skull base is noted. Due to lack of remodeling, continued deposition of bony matrix results in "bone within bone" appearance that is most evident in the spine and ilium [96]. Dense sclerotic appearance of the endplates causes "sandwich" appearance of vertebrae that can be confused with "rugger jersey" spine appearance [96] (Figure 19).…”

Section: Radiologic Featuresmentioning

confidence: 99%

“…Due to lack of remodeling, continued deposition of bony matrix results in "bone within bone" appearance that is most evident in the spine and ilium [96]. Dense sclerotic appearance of the endplates causes "sandwich" appearance of vertebrae that can be confused with "rugger jersey" spine appearance [96] (Figure 19). Although the two entities are difficult to differentiate, osteopetrosis generally causes a more defined and dense appearance of the endplates.…”

Section: Radiologic Featuresmentioning

confidence: 99%

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Imaging Findings and Evaluation of Metabolic Bone Disease

Patel

Ramanathan

Kuban

et al. 2015

Advances in Radiology

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Bone is a dynamic organ of the endoskeleton, playing an important role in structural integrity, mineral reservoirs, blood production, coagulation, and immunity. Metabolic bone disease encompasses a broad spectrum of inherited and acquired disorders that disrupt the normal homeostasis of bone formation and resorption. For patients affected by these processes, radiologic imaging plays a central role in diagnosis, monitoring treatment, and risk stratification. Radiologists should be familiar with the diseases, intimately aware of the imaging findings, and possessive of multimodality expertise to wisely guide the best practice of medicine. The purpose of this paper is to review the imaging features and characteristics of the most common types of metabolic bone disease with highlights of clinically relevant information so that readers can better generate appropriate differential diagnoses and recommendations. For this review, a thorough literature search for the most up-to-date information was performed on several key types of metabolic bone disease: osteoporosis, osteomalacia, rickets, scurvy, renal osteodystrophy, hyperparathyroidism, Paget's disease, osteogenesis imperfecta, acromegaly, and osteopetrosis. Although they all affect the bone, these diseases have both shared characteristic features that can be discerned through imaging.

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Section: Radiologic Featuresmentioning

confidence: 99%

Section: Radiologic Featuresmentioning

confidence: 99%

Section: Radiologic Featuresmentioning

confidence: 99%

Section: Radiologic Featuresmentioning

confidence: 99%

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Imaging Findings and Evaluation of Metabolic Bone Disease

Patel

Ramanathan

Kuban

et al. 2015

Advances in Radiology

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“…Osteopetrosis is a rare hereditary bone disease characterized by increased bone density [1][2][3][4]. There is a failure of bone remodeling due to disease of the osteoclasts..…”

Section: Introductionmentioning

confidence: 99%

Treatment of Osteopetrosis-Related Subtrochanteric Fracture Using the Ilizarov Compression-Distraction Device: A Case Report

Ganaisan¹

2017

MOJOR

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Submit Manuscript | http://medcraveonline.com (ADO 2) which displays end-plate thickening of the verterbrae "rugger-jersey spine" and the endobones "bone-within-bone" radiographic appearance of the pelvis. ADO 2 patients are usually asymptomatic and are diagnosed either incidentally or while presenting with a fracture as although the density increases, the mechanical strength is decreased [5]. Literature has documented various treatment options-surgical and conservative, with their respective outcomes [3][4][5][6][7]. The common feature noted is the difficulty faced intra-operatively due to the hard, dense bone resulting in equipment failure, prolonged surgery, suboptimal fixations and complications to the patient-blood loss, tissue and bone damage. We report a case of ADO 2 which was fixed using the ICD device with a good outcome Case ReportA 26 year lady, a known case of ADO 2, was referred to our center following a fall at home one month earlier. Her district hospital team had suggested a trial of conservative treatment, but due to the persistent pain and discomfort of immobilization she requested for surgical intervention. Despite sustaining the injury a month earlier, she was still suffering from substantial pain. Radiographs showed a subtrochanteric fracture of the left femur-Seinsheimer 2A without healing callus. After ruling out other injuries, skin traction was applied. The treatment options and all possible complications-intra, immediate and delayed post-operative were explained to her and the family. A collective decision was made to apply an ICD as we aimed to minimize operative time, reduce possible damage to tissue and bone, and limit surgical scarring. The necessary pre-operative investigations were done, and optimized where needed.After spinal anesthesia was administered, she was placed on a traction table and under an image-intensifier a closed manual reduction was attempted to reduce the displacement as much as possible. But as expected, the proximal segment was significantly displaced upward-flexed and externally rotated. The decision was made to apply the ICD framework, and use the components to reduce the fracture-a benefit of the ICD system. 1.8 millimeter Russian made biocompatible olive wires and 5.0 millimeter tapered schanz pins were inserted based on the safe zones followed by the rings and arches. The initial deformity was well reduced in the coronal plane but was unsatisfactory in the sagittal plane. Taking into account the duration of the injury-specifically the contracted surrounding muscles, we applied a translation device for a gradual and controlled reduction. This also prevented the necessity of an open reduction, thus minimizing operative time, preventing blood loss, and the risk of fracture propagation if we had tried re-manipulation. Post-operatively the limb was clinically well-aligned (Figures 1 & 2).The total surgical time was about 50 minutes. There was negligible blood loss as only stab incisions were made for the schanz pins entry. Post-operative pain was well managed ...

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Temporal Bone Pathology of Adult-Type Osteopetrosis

Milroy¹,

Michaels²

1990

Archives of Otolaryngology - Head and Neck Surgery

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\s=b\We present the pathologic features in the temporal bones of a 62-year-old woman with the adult benign form of osteopetrosis. Most of the bony tissue was expanded by dense lamellar bone, with, in some places, the presence of residual calcified cartilage. In the otic capsule, globuli interossei were greatly increased in number. The ossicles were enlarged with fixation of the stapes. Narrowing of mastoid air cells, the internal auditory meati, and eustachian tubes was present, the latter associated with chronic otitis media. The bone deposition in the ossicles contributed to the conductive hearing loss, which was a prominent feature in this patient's otologic findings. The (Fig 2). The ossicles were abnormally

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Autosomal dominant osteopetrosis

Cited by 20 publications

References 16 publications

Imaging Findings and Evaluation of Metabolic Bone Disease

Imaging Findings and Evaluation of Metabolic Bone Disease

Treatment of Osteopetrosis-Related Subtrochanteric Fracture Using the Ilizarov Compression-Distraction Device: A Case Report

Temporal Bone Pathology of Adult-Type Osteopetrosis

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