1/33. The musculoskeletal manifestations of Werner's syndrome.Werner's syndrome is a rare condition usually presenting as premature ageing in adults. Over a period of 30 years we have followed two siblings with extensive musculoskeletal manifestations including a soft-tissue tumour, insufficiency fractures, nonunion and tendonitis, with associated problems of management. The literature is reviewed.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
2/33. retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.- - - - - - - - - - ranking = 31.000529742421keywords = connective (Clic here for more details about this article) |
3/33. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?Gerodermia osteodysplastica (GO) is a connective tissue disorder characterized by premature aging, wrinkled, and lax skin with reduced elasticity which is more marked on the dorsum of the hands and feet associated with hyperextensible joints and osteoporosis. The wrinkly skin syndrome (WSS) is characterized by wrinkled skin over the dorsum of the hands, feet, and abdomen; hyperextensible joints, particularly of the hands; intrauterine growth retardation; postnatal failure to thrive; and mental and developmental delay. We report on five children from two consanguineous Arab families with features overlapping both GO and WSS. All five children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. All had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in all of them. The older three children developed progressive prognathism. We suggest that GO and WSS could represent variable manifestation of the same disorder.- - - - - - - - - - ranking = 31.000529742421keywords = connective (Clic here for more details about this article) |
4/33. Anterior cervical spine fusion using RABEA-Titan-Cages avoiding iliac crest spongiosa: first experiences and results.INTRODUCTION: In cervical discectomy using the ventral approach both, the necessity of replacement of the removed disc space itself as well as the material of the graft, if used, is still a matter of discussion. New approaches are titan-cages, usually filled with autologeous spongiosa. We present in the following study our first experiences using the hollow RABEA-Titan-Cages without filling with spongiosa to avoid the iliac crest complications. MATERIAL AND methods: 63 patients (33 male, 30 female, age 25-79 years, mean 52 years) were operated on a degenerative cervical disc herniation by ventral discectomy and replacement of the disc by the cage for fusion. The mean follow-up was 8 months. The preoperative symptoms were radiculopathies (n = 43) and myelopathies (n = 20). The diagnosis was confirmed by CT, MRI, myelography/CT and functional plain x-ray examination excluding instability. Level of the disc herniation: C3/4 n = 3, C4/5 n = 4, C5/6 n = 21, C6/7 n = 23, C7/Th1 n = 5, and 7 cases with 2 levels. In 30 cases we found hard discs, in 13 cases soft discs and in 20 patients combined lesions. All patients were intra- and postoperatively controlled by x-ray examination. RESULTS: Free of complaints were 17 patients, a marked improvement was found in 33 cases, a minor improvement in 10 cases, from those 4 patients additionally suffered from depression or alcoholism and 1 patient had a trauma in the history. 3 patients showed no change. Minor neck pain was reported in 5 cases. The mean postoperative hospitalisation was 8 days. Surgery related complications: temporary radicular palsies n = 5, hoarseness/problems with swallowing n = 5. In 2 cases (3%) with osteoporosis surgical revision of the cage was necessary (one case with ventral dislocation and one case with recurrent nerve root compression). In all other cases the x-ray control proved the correct placement of the cages intra- and postoperatively on discharge. CONCLUSION: For the anterior cervical fusion, the hollow RABEA-Titan-Cages present good clinical results and help to avoid complications from the iliac crest donor site. For long-term results, a longer follow-up and a increased number of patients is required.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
5/33. osteoporosis with underlying connective tissue disease: an unusual case.A 44-year-old male was initially seen by dermatologists, who noted an erythematous rash on sun-exposed areas, the back, shoulders, and upper arms. There was associated muscle weakness and significant weight loss. Investigation revealed mildly raised aspartate and alanine transaminases but normal creatine kinase. Inflammatory indices and antinuclear antibodies (ANAs) were normal. biopsy of the rash was reported as consistent with either dermatomyositis (DM) or acute lupus erythematosus. A diagnosis of DM was made, and prednisolone was given with improvement of the rash but deteriorating myopathy. The patient was referred to the rheumatology department, and further history revealed multiple vertebral fractures after falling from standing height; these had occurred six months prior to starting steroids. Besides smoking he had no other risk factors for osteoporosis. Examination showed normal muscle strength, no muscle tenderness, and no joint abnormality. Repeat muscle enzymes were normal, and ANAs were now 1 : 100, but dsDNA antibodies and extractable nuclear antigens were normal. Investigations for osteoporosis revealed a hypergonadotrophic hypogonadism picture. Further examination indicated scanty pubic and auxiliary hair, small testicles, and mild gynecomastia. He is married, though has no children of his own. The hormonal profile raised the possibility of Klinefelter's syndrome, which was subsequently confirmed with karyotyping of 47 XXY. hypogonadism has been established as a cause of osteoporosis in males, and in this case would explain the occurrence of fractures in the absence of other major risk factors. Systemic lupus erythematosus has been recognized in association with Klinefelter's syndrome; in view of the normal muscle enzymes, his rash is most likely due to acute discoid lupus with androgen deficiency causing muscle weakness.- - - - - - - - - - ranking = 124.00211896968keywords = connective (Clic here for more details about this article) |
6/33. Transient osteoporosis of the femoral condyle: a case report.In this paper, we describe a patient with transient osteoporosis of the femoral condyle. A differential diagnosis should be made for osteonecrosis, infectious disorders, and infiltrative neoplasms based on the normal laboratory findings and diffuse bone edema pattern in MRI. Since this disorder is self-limiting, both the surgeon and clinician should be aware of this condition and must avoid unnecessary intervention.- - - - - - - - - - ranking = 1.3019924201054keywords = neoplasm (Clic here for more details about this article) |
7/33. Percutaneous transpedicular vertebroplasty with calcium phosphate cement in the treatment of osteoporotic vertebral compression and burst fractures.OBJECT: Osteoporotic vertebral fractures occasionally lead to late-onset collapse, kyphosis, persistent back pain, and disability. The authors describe a series of patients in whom they performed percutaneous vertebroplasty by using calcium phosphate cement (CPC) to obtain early pain relief and improve the integrity of the osteoporotic vertebral body (VB). methods: Between August 2000 and February 2001, they performed 17 percutaneous transpedicular CPC-assisted vertebroplasty procedures in 16 patients who harbored thoracic or lumbar osteoporotic vertebral fractures. Following repositioning and curettage of the pathological soft tissues, CPC-assisted vertebroplasty was percutaneously performed in four patients with osteoporotic burst fracture and pseudarthrosis (Procedure A). In situ CPC-assisted vertebroplasty was performed in 12 patients with fresh vertebral compression fractures due to osteoporosis (Procedure B). back pain and low-back pain were evaluated using a visual analog scale (VAS). The deformity index of the VB was measured on a lateral radiograph as the ratio of the VB's height (sum of measurements at anterior, middle, and posterior regions) to its longitudinal diameter. Based on VAS scores, pain was decreased in all patients immediately after surgery, and pain relief was maintained at the last follow up. The mean preoperative deformity index score of the VB was 1.43 in Procedure A and 1.67 in Procedure B; postoperatively scores improved to 1.59 and 1.93, respectively. At the 6-month follow-up examination, the mean deformity index score rebounded to 1.52 in Procedure A and 1.79 in Procedure B. Bone union was documented in all patients. Complications, such as a temporary respiratory insufficiency and a small amount of CPC leakage into the spinal canal, were observed in patients who underwent Procedure B. CONCLUSIONS: Percutaneous transpedicular CPC-assisted vertebroplasty is a minimally invasive procedure that provides early relief of pain and prevents vertebral collapse and pseudarthrosis in patients with osteoporotic vertebral fracture.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
8/33. 99mTc-HDP pinhole SPECT findings of foot reflex sympathetic dystrophy: radiographic and MRI correlation and a speculation about subperiosteal bone resorption.reflex sympathetic dystrophy (RSD) is a common rheumatic disorder manifesting painful swelling, discoloration, stiffening and atrophy of the skin. Radiographic alterations include small, spotty subperiosteal bone resorption (SBR) and diffuse porosis, and MR imaging shows bone and soft-tissue edema. The purposes of current investigation were to assess 99mTc HDP pinhole SPECT (pSPECT) findings of RSD, to correlate them with those of radiography and MRI and to speculate about causative mechanism of SBR which characterizes RSD. pSPECT was performed in five patients with RSD of the foot. pSPECT showed small, discrete, spotty hot areas in the subperiosteal zones of ankle bones in all five patients. Diffusely increased tracer uptake was seen in the retrocalcaneal surface where the calcaneal tendon inserts in two patients with atrophic RSD. pSPECT and radiographic correlation showed spotty hot areas, that reflect focally activated bone turnover, to closely match with SBR. Further correlation with MRI showed both spotty hot areas and SBR to coincide in location with the insertions of ligaments and tendons, onto which pulling strain is constantly exerted. In contrast, the disuse osteoporosis in unstrained bones did not show any more significantly increased tracer uptake than normal cancellous bones.- - - - - - - - - - ranking = 1keywords = soft (Clic here for more details about this article) |
9/33. Familial hypothalamic digoxin deficiency syndrome.The case report of a family with coexistence of hypotension, recurrent respiratory infection, motor tics, obsessive-compulsive disorder (OCD), major depressive disorder, early onset osteoporosis, low body mass index, bulimia nervosa, and healthy aging with longevity is described. The family members had hyposexual behavior and less tendency toward spirituality. They did not have insomnia, but they did display tendency toward increased somnolence. No addictive behavior was observed. The family demonstrated a high level of bonding and affectionate behavior, and they were less creative, with an average intelligence quotient (IQ). There was a total absence of vascular thrombosis, systemic neoplasms and neuronal degeneration in the indexed family. All members of the indexed family were left hemispheric dominant. The levels of serum digoxin, HMG-CoA reductase activity, and dolichol were found to be decreased in the members of the indexed family, with a corresponding increase in red blood cell (RBC) Na( )-K ATPase activity, serum ubiquinone and magnesium levels. There was increase in tyrosine catabolites and a reduction in tryptophan catabolites in the serum. The total and individual glycosaminoglycan fractions, carbohydrate residues of glycoproteins, activity of glycosaminoglycans (GAG) degrading enzymes, and glycohydrolases were decreased in the serum. The concentration of RBC membrane total GAG and carbohydrate residues of glycoproteins increased, while the cholesterol: phospholipid ratio of the membrane decreased. The activity of free radical scavenging enzymes were increased, while the concentration of free radicals decreased significantly. The same biochemical patterns were observed in left hemispheric dominance as opposed to right hemispheric dominance. The significance of these findings in the pathogenesis of these disorders is discussed.- - - - - - - - - - ranking = 1.3019924201054keywords = neoplasm (Clic here for more details about this article) |
10/33. Soft-tissue mineralization in werner syndrome.werner syndrome is a rare autosomal recessive disorder characterized by clinical signs of premature aging, short stature, scleroderma-like skin changes, endocrine abnormalities, cataracts, and an increased incidence of malignancies. We report on a 48-year-old woman with werner syndrome associated with intracranial meningiomas who had extensive musculoskeletal manifestations including osteoporosis of the extremities, extensive tendinopathy about the ankles, osteomyelitis of the phalanges of the first left toe, abundant soft-tissue calcification, and two dense ossified soft-tissue masses, with cortical bone and trabeculae arising from the posterosuperior aspect of the calcanei and extending into Kager fat pads. A review of previous descriptions of the radiological abnormalities of werner syndrome indicates that the presence of soft-tissue calcifications has either not been noted or been mentioned only briefly. Moreover, there is no mention of bony masses associated with werner syndrome in the world literature, and this would appear to be the first report of this kind.- - - - - - - - - - ranking = 3keywords = soft (Clic here for more details about this article) |
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