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A five year old girl presented with short femora, cupped distal metaphyses and flexion deformity of the knees suggesting previous epiphyseo-metaphyseal damage. The aetiology was suggested by finding a history of previous infantile scurvy with separated distal femoral epiphyses. The rarity of this complication and possible contributing factors are discussed.
The Jansen type of metaphyseal dysplasia (JMD) is a rare disorder characterized by growth disturbance and progressive metaphyseal changes initially reminiscent of rickets or primary hyperparathyroidism. Seven of the 16 patients described until now presented with hypercalcaemia of unknown origin. We report studies of calcium metabolism in a hypercalcaemic girl with JMD during the first 3 years of life. The patient presented with hypercalcaemia, hypercalciuria, elevated urinary phosphate and cyclic adenosine monophosphate (AMP) excretion as well as increased 1,25-dihydroxyvitamin D concentrations in serum despite suppressed or low normal values of circulating intact parathyroid hormone (PTH) and PTH related peptide (PTHrP). Measurements of biochemical indices of bone turnover indicated increased bone resorption without sufficient compensatory bone formation. The study suggests that the hypercalcaemia in our patient was caused by an unknown factor, which is not PTH or PTHrP, with osteolytic activity and stimulatory effect on the proximal kidney tubule.
In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epi-metaphyseal dysplasia (S.E.M.D.). The metaphyseal and epiphyseal changes in the long bones were symmetrical and mostly rhizomelic - with the involvement of the iliac bones, tarsal bones with irregular lesions and disproportionally long fibulae; these changes confirm the heterogeneity of the disease.
Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.
A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraplegia. The unique radiographic changes consist of peripheral osteosclerosis affecting predominantly metaphyses of the long bones and to a lesser degree ends of the ribs and clavicles, iliac crests, acetabulae, ischio-pubic synchondroses and vertebrae. The epiphyses are sclerotic in early life. The round bones, short tubular bones and the skull are little affected. The shafts of the tubular bones are osteopenic. Increased serum alkaline phosphatase was the only laboratory abnormality detected. We suggest the name "osteosclerotic metaphyseal dysplasia" for this disorder.
The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities.
A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia.
Microradiographic examination of metaphyses in long and short tubular growing bones allowed detection of a repetitive, clearly defined pattern of three adjacent zones; the latter are successively formed by the mineralization of cartilaginous longitudinal intercolumnar septa and by the subsequent apposition of other mineralized tissues concurrently with resorption. Consequently, each zone of the metaphysis includes mineralized tissues of various compositions and ages, identifiable by their different mineralization densities. Microradiography of pieces of the growing skeleton in several animal species shows that the same organization is not only present in long and short tubular bones but also in many other such as the pelvis and scapula, cuboid bones like the calcaneum and talus, and cartilaginous bones at the base of the skull. This suggests that there is no difference between the osteogenesis pattern of these bones and tubular ones. The problem of identifying the factors generating such metaphyseal organization is raised.
The purpose of this study is to define the appearance of normal epiphyseal and metaphyseal marrow and normal changes of marrow due to fatty conversion on Gadolinium (Gd)-enhanced MR Imaging. Unenhanced and enhanced T1-weighted MR imaging were performed in proximal and distal femoral ends of 8 healthy piglets at the ages of 2, 4, 6 and 8 weeks, respectively. The changes with age in signal intensity and enhancement ratio of the epiphyseal and metaphyseal marrow with age were examined. The correlation of MRI characteristics with histological findings was studied. Our study showed that marrow of the metaphysis and of periphery of the 2nd ossification center were well vascularized hematopoietic marrow and had great enhancements. The enhancement ratio of metaphysis was greater than that of epiphyseal marrow and both enhancement ratios degraded gradually with age. The central regions of the epiphyseal ossification center and of the diaphysis were of fatty marrow and had little enhancement. It is concluded that on Gd-enhanced MR imaging the hematopoietic marrow of metaphysis and of periphery of the 2nd ossification center had greater enhancement than that of fatty marrow of central region of the 2nd ossification center. All of their enhancements decreased gradually with age.
PROBLEM: Since 1998 the calcium-phosphate cement BIOBON has been an established tool for the operative treatment of metaphyseal bone defects. No data are currently available in the literature on the clinical results of employing BIOBON: METHODS: For the evaluation of the mediumterm outcome in the therapy of metaphyseal bone defects after distal radial fractures, we examined 29 patients in a retrospective study. These patients with unstable radial fractures were treated between 1998 and 2001 with BIOBON and additional osteosynthesis. RESULTS: We performed a clinical and radiological examination of 20 patients (69.0%) after an average period of 18.35 months (9-40 months). In all patients parts of the bone replacement material were still visible radiologically. The average outcome using the Gartland and Werley score was 7.5 points (2-21) and therefore a good result. CONCLUSION: Calcium-phosphate cements represent a good alternative to autogenous bone transplantation, especially in elderly patients.
Osteoporotic changes start in cancellous bone due to the underlying pathophysiology. Consequently, the metaphyses are at a higher risk of "osteoporotic" fracture than the diaphysis. Furthermore, implant purchase to fix these fractures is also affected by the poor bone quality. In general, researchers and developers have worked on three different approaches to address the problem of fractures to osteoporotic bone: adapted anchoring techniques, improved load distribution as well as transfer with angular stable screws, and augmentation techniques using bone substitutes. A patent-based review was performed to evaluate which ideas were utilized to improve fixation in osteoporotic, metaphyseal bone, especially in the proximal femur, and to analyze whether the concept had entered clinical use. Anchoring devices that are either extramedullary or intramedullary have a long clinical history. However, demanding surgical techniques and complications, especially in poor quality bone, are justification that such implants and their corresponding surgical techniques need to be improved upon. Expanding elements have been evaluated in the laboratory. The results are promising and the potential of this approach has yet to be fully exploited in the clinics. Internal fixators with angular stable screws open the door for many new anchorage ideas and have great potential for further optimization of load distribution and transfer. Augmentation techniques may improve anchorage in osteoporotic bone. However, the properties of bone substitute materials will need to be modified and improved upon in order to meet the demanding requirements. If we summarise the development process and the clinical use of implants to date, we have to clearly state that more factors than simply biomechanical advantage will determine the clinical success of a new fixation principle or a new implant. Instead, fracture treatment of patients with osteoporosis really needs an interdisciplinary approach!
Bone loss after oophorectomy of adult rats is more rapid and complete in the metaphysis than in the epiphysis of the femur, particularly in the proximal region of the metaphysis distant from the growth plate. This study was undertaken to determine the effects of prepubertal oophorectomy, on femoral cancellous bone acquisition during growth. Rats were oophorectomized (OVX) or sham operated at 3 weeks of age and killed at intervals up to 78 weeks for scanning electron microscopy and histomorphometry of the distal femur. Differences in cancellous bone architecture between the two groups was evident after 6 weeks of age. Relatively minor differences were found in the part of the metaphysis near the growth plate and in the epiphysis, with less trabeculae in the primary spongiosa and 1 to 2 less trabeculae/mm in the secondary spongiosa. However, as metaphyseal growth proceeded, trabeculae were present for a greater distance up the femoral shaft in controls than in OVX rats, with mean BV/TV in the proximal part of the metaphysis increasing from 1.4% at 6 weeks to 13.4% at 20 weeks in controls, with no increase in the OVX rats. We find that the lack of ovarian hormones increases the rate of destruction of trabeculae near the metaphyseal-diaphyseal junction.
We report a case of an otherwise healthy neonate diagnosed at birth with a classic metaphyseal lesion of the proximal tibia following external cephalic version for frank breech presentation and a subsequent urgent cesarean section. Although the classic metaphyseal lesion is considered highly specific for infant abuse, this case demonstrates the importance of obtaining a history of obstetric trauma for neonates presenting to the imaging department for suspected non-accidental injury.
Metaphyseal anadysplasia is a rare form of metaphyseal chondrodysplasia with well-defined radiological abnormalities. The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance.
Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.
A 40-year-old white man with a 3-year history of mild to severe right thigh and knee pain was referred for radiographic investigation. Radiographs show a fusiform, bilaterally symmetrical enlargement of the diaphyses and metaphyses of the long bones (femur, tibia, fibula, radius and ulna). A narrowed medullary cavity is illustrated on CT scan of the femur. All bones show periosteal and endosteal bone formation. There is no history of familial involvement, trauma, infection or systemic illness. Blood chemistry could not point out any abnormality. Radiographic findings and clinical history suggest the diagnosis of Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia (PDD). This case is of interest because of its rare metaphyseal involvement, mild form and sporadic presentation.
UNLABELLED: We report on a 6-year-old girl with short stature which developed following the administration of 13-cis-retinoic acid (a synthetic derivative of vitamin A or retinoid) for 40 months as adjunct chemotherapy for neuroblastoma. Radiographic examination suggested osteophyte formation in the cervical spine, which is the most common skeletal manifestation of retinoid toxicity [10, 11]. In addition, severe metaphyseal cupping with a cone-shaped epiphysis primarily affecting rapidly growing long bones was found, which represented impaired enchondral ossification. This epi-metaphyseal alteration, though unusually severe, was reminiscent of the premature epiphyseal closure which has been described as an adverse effect of 13-cis-retinoic acid [10-12]. Other minor skeletal changes included posterior scalloping of the vertebral bodies and increased interpediculate distances, which were related to a widened spinal canal found on CT. A literature search disclosed several primary skeletal dysplasias with superficial radiological similarities to those of the present patient. However, these entities showed significant clinical and radiological differences from our patient. CONCLUSION: The precise cause of the generalized skeletal alteration in the present patient remained unknown, but it conceivably resulted from the administration of 13-cis-retinoic acid.
Metaphyseal chondrodysplasia of the Schmid type (MCDS) is a skeletal dysplasia affecting the long bone metaphyses; it is characterized by short stature, bowlegs, and coxa vara. The spine is generally not involved. Here we report a novel missense mutation of the type X collagen gene in a sporadic case of MCDS. The mutation was a heterozygous single base-pair transition of G-to-A at nucleotide 1783, which predicted a substitution of glycine by arginine at codon 595 (G595R) in the carboxyl-terminal noncollagenous domain. Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. The novel G595R mutation identified in the present study supports the concept of type X collagenopathy.