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PubMedDate not supplied

Pycnodysostosis: some aspects concerning kinetics of calcium metabolism and bone pathology.

A 23-year-old white woman suffering pycnodysostosis whose parents and five siblings were unaffected was investigated. Chromosomal morphology was normal. Histologic examination of a biopsy specimen obtained from the distal phalanx of the left thumb, corresponding to an area on an x-ray film of osteolysis, showed a fibrous dysplasia-like picture. Kinetic studies of calcium metabolism revealed that exchangeable pool size, turnover, and bone accretion rate were all decreased. Intestinal calcium absorption was investigated simultaneously by a double isotope technique and by deconvolution of the plasmatic specific activity curve of 47Ca given per os. Results obtained by both methods coincided in that values were found to be similarly increased. Endogenous fecal calcium was also determined and revealed a similar increase. Some physiopathological implications of these findings are discussed.

Adult↗
PubMed2002

Sclerosing osteomyelitis of Garré periostitis ossificans.

Sclerosing osteomyelitis of Garré is a rare syndrome; the mandible is the most commonly affected bone segment in the cervicofacial region. This chronic disease is characterized by a nonsuppurative ossifying periostitis with subperiosteal bone formation, commonly reactive to a mild infection or irritation. The differential diagnosis must be made with similar clinical conditions with hard mandibular swelling associated with bony sclerosis. Presumptive diagnosis can be achieved by radiology, but such diagnosis must be confirmed by histology. The aim of therapy is to remove the cause when recognized, aided by an adequate antibiotic therapy. Clinical, radiographic, and histologic features are presented in this case report.

Adolescent↗
PubMed2004

Situs inversus totalis with accompanying craniodiaphysial dysplasia: a new syndrome?

A 20-year-old man with craniofacial anomalies of craniodiaphysial dysplasia (CDD), facial paralysis, mental retardation, and situs inversus totalis is described. Similar features except situs inversus totalis are also present in two of his sisters. The authors believe this to be the first reported case of CDD with accompanying situs inversus totalis.

Adolescent↗
PubMed1980

Tc-99m-MDP bone scintigraphy and "growing" bone islands: a report of two cases.

Difficulties in correlation of Tc-99m-MDP bone scintigraphy and radiography of "growing" bone islands were encountered in two cases. The sensitive nature of bone scintigraphy as a metabolic indicator and the slow, inconstant growth rate of bone islands are presumed to cause the difficulties in correlation.

Bone Neoplasms↗
PubMed1982

Discordance of sclerosing skeletal secondaries between sequential scintigraphy and radiographs.

Regression in metastatic lesions as seen on a bone scan may be accompanied by increasing sclerosis radiographically. There are two possible causes for interval radiographic sclerosis: progressive osteoblastic tumor deposition or the healing process itself. The presence of active neoplasia can better be determined in sclerotic lesions by the bone scan which demonstrates the tumor-induced new bone formation, as compared to radiographs which show the more unpredictable results of new bone formation plus the reparative process. Two cases are presented to illustrate the importance of bone scanning in determining whether sclerosis indicates disease progression or regression.

Bone Neoplasms↗
PubMed1988

Bone imaging as an aid for the diagnosis of osteopoikilosis.

An unusual case of osteopoikilosis was found in a 52-year-old black woman. The rather large diffuse focal increased densities involving the ribs, spine, and pelvis as seen in the roentgenograms were believed to represent metastatic bone lesions. The normal nuclide bone images helped revise the diagnosis to osteopoikilosis. Early recognition of osteopoikilosis would have prevented the patient's apprehension and the extensive work-up for the primary tumor.

Bone Neoplasms↗
PubMed1993

Correlation between bone imaging and the clinical picture in two unsuspected cases of progressive diaphyseal dysplasia (Engelmann's disease).

Progressive diaphyseal dysplasia was incidentally discovered in two patients referred for Tc-99m MDP bone scintigraphy (one for intense sciatica, the other for the detection of breast cancer metastases). Tracer accumulation in the diaphyses of the lower limbs and the base of the skull was accompanied by bone thickening and patency of the medullary cavity, as demonstrated by radiography, MRI, and bone marrow scanning. Comparison of the clinical pictures with the results of instrumental examinations showed that these were cases of sporadic progressive diaphyseal dysplasia of slight and average gravity, respectively. The differentiation of Ribbing's disease is explained and reference also is made to a finding not mentioned in the literature, namely frontal bone resorption lacunules in one patient.

Bone Marrow↗
PubMed2000

Monostotic fibrous dysplasia of the sphenoid sinus: a serendipitous finding on a bone scan.

A 22-year-old woman had a Tc-99m MDP whole-body scan for low back pain. A focal area of increased activity was seen in the skull base in the region of the sella turcica. A computed tomographic examination showed ground-glass opacification of the sphenoid sinus and bony sclerosis along its walls, characteristic of fibrous dysplasia. Monostotic fibrous dysplasia, the more common form compared with the polyostotic variety, occurs in 70% to 80% of all patients with fibrous dysplasia. Monostotic lesions usually involve the ribs, femur, tibia, cranium, maxilla, and mandible. The frontal and sphenoid bones are the cranial bones most commonly involved.

Adult↗
PubMed1996

Maternal high calcium diet fails to reverse rickets in the osteosclerotic mouse.

The coexistence of osteopetrosis and rickets (osteopetrorickets) in humans has been described frequently. The osteosclerotic mouse is a unique, lethal osteopetrotic mutation that also has rickets. Attempts to cure this mutation by bone marrow transplantation have been largely unsuccessful, and its resistance to cure presumably is attributable to hypomineralized skeletal tissue that does not support osteoclast neogenesis, differentiation, and function. Current opinion regarding the clinical treatment of patients with osteopetrorickets involves first, the resolution of the rickets, followed by bone marrow transplantation to resolve the osteopetrosis, although this has not been successfully performed in humans. Attempts were made in the current study to reverse the rachitic lesion in the osteosclerotic mouse by feeding female breeders a high calcium (2.0%) diet throughout pregnancy and lactation. Mutant offspring (2 to 3 weeks of age) from such mothers remained hypocalcemic and hypophosphatemic, showed no decrease in growth plate cartilage thickness, and did not have enhanced cartilage or skeletal mineralization. For this unique mutation, efforts should be continued toward developing the appropriate therapies for reversal of its rachitic and skeletal defects; such therapies may yield insights into the clinical care of human infants with osteopetrorickets.

Animals↗