1/66. association of diffuse idiopathic skeletal hyperostosis (DISH) and calcification and ossification of the posterior longitudinal ligament.Diffuse idiopathic skeletal hyperostosis (DISH) is a common ossifying diathesis in middle-aged and elderly patients characterized by bone proliferation along the anterior aspect of the spine and at extraspinal sites of ligament and tendon attachment to bone. Four patients with DISH revealed extensive calcification and ossification of the posterior longitudinal ligament in the cervical spine. review of cervical spine radiographs in 74 additional patients with DISH demonstrated bony hyperostosis of the posterior aspect of the vertebrae in 41%, posterior spinal osteophytosis in 34%, and posterior longitudinal ligament calcification and ossification in 50%. These ligamentous findings, which have previously been described almost exclusively in Japanese people, appear to be an additional skeletal manifestation of DISH.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/66. Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.desmin myopathy is a familial or sporadic disorder characterized by intracytoplasmic accumulation of desmin in the muscle cells. We and others have previously identified desmin gene mutations in patients with familial myopathy, but close to 45% of the patients do not report previous family history of the disease. The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. A novel heterozygous R406W mutation in the desmin gene was identified by sequencing cDNA and genomic dna. Expression of a construct containing the patient's mutant desmin cDNA in SW13 (vim-) cells demonstrated a high pathogenic potential of the R406W mutation. This mutation was not found in the patient's father, mother or sister by sequencing and restriction analysis. Testing with five microsatellite markers and four intragenic single nucleotide polymorphisms excluded alternative paternity. Haplotype analysis indicates that the patient's father was germ-line mosaic for the desmin mutation. We conclude that de novo mutations in the desmin gene may be the cause of sporadic forms of desmin-related cardiac and skeletal myopathy.- - - - - - - - - - ranking = 31.236979523588keywords = family (Clic here for more details about this article) |
3/66. Further delineation of the DOOR syndrome.Two related sibships from an extended family have been observed with the features of the DOOR syndrome. These features included deafness, onychodystrophy, osteodystrophy, microcephaly, and global developmental retardation with progressive blindness. seizures, which were associated with hypsarrhythmia, were frequent and difficult to control and ultimately were the cause of death in two patients. An MRI brain scan of case 1 showed a number of abnormalities including markedly reduced myelination. The urine organic acid analysis showed a ten-fold increase of 2-oxoglutarate. In one patient the placenta was noted to have multiple fluid filled cysts, which is a feature reported in other metabolic diseases. It is suggested that there may be genetic heterogeneity in the syndrome, and the presence of increased 2-oxoglutarate is associated with a more severe phenotype which is frequently lethal.- - - - - - - - - - ranking = 31.236979523588keywords = family (Clic here for more details about this article) |
4/66. A case of calvarial eosinophilic granuloma with rapid expansion and wide skull invasion: immunohistochemical analysis of Ki-67.A 15-year-old male visited our neurological service with progressive occipitalgia. Computed tomography showed an osteolytic lesion at the occipital cranium, which grew rapidly during a month. magnetic resonance imaging showed the lesion as low intensity on T1- and high intensity on T2-weighted images. The mass was soft and successfully removed with surrounding cranium. Histological examination revealed an eosinophilic granuloma with wide skull invasion. Immunohistochemical analysis on the specimen disclosed Ki-67 expression with labeling index of 6.2%. Relatively high proliferative activity in the present case indicates that the local replication of Langerhans' cells as well as inflammatory response contributes to the expansion of calvarial eosinophilic granuloma. This is the first report demonstrating the result of Ki-67 expression on calvarial eosinophilic granuloma.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/66. pyridoxine-dependent seizures associated with hypophosphatasia in a newborn.pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because of respiratory distress. A bone radiograph showed hypomineralization of all bones, and serum alkaline phosphatase was very low (10 U/L). Within the first day of life, seizures (focal clonic and tonic) started. The seizures were refractory to phenobarbital and other antiepileptic drugs. The first electroencephalogram (EEG) showed a burst-suppression pattern. pyridoxine was administered (50 mg/kg) and completely controlled the seizures. Antiepileptic drugs were discontinued, and a maintenance dose of pyridoxine (10 mg/day) was established. A postpyridoxine EEG revealed the disappearance of the burst-suppression pattern. The patient died at age 26 days. pyridoxine-dependent seizures, when recognized early and treated, have a more favorable prognosis. However, hypophosphatasia detected at birth almost always has a lethal outcome.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
6/66. erdheim-chester disease: case report, PCR-based analysis of clonality, and review of literature.erdheim-chester disease (ECD) is a rare, distinct clinicopathologic entity with nearly pathognomonic radiographic features. The lesions consist of lipid-storing CD68 ( ), CD1a (-) non-Langerhans' cell histiocytes, either localized to the bone or involving multiple organ systems in the body. Whether these histiocytic proliferations represent monoclonal neoplastic populations or are part of a polyclonal reactive process is unclear. We present a case report of ECD in a 35-year-old African-American woman with a progressive course over 6 years. We investigated the clonality of the histiocytes using the HUMARA assay on paraffin-embedded tissue sections but did not find any evidence that these cells represent a monoclonal population. In this report, the characteristics of ECD are reviewed, the genetic basis of the HUMARA assay is discussed, and our results in the context of other clonality investigations reported in the literature to date are summarized.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/66. Intraosseous proliferative sparganosis: a case report and review of the literature.Intraosseous proliferative sparganosis is an extremely rare parasitic disease in which the larvae of incomplete differentiated sparganum proliferate in the human bone. We present the first case of intraosseous proliferative sparganosis arising in the long bone. The patient was a 51-year-old man who complained of a slow growing painful mass on his right leg. The radiographic findings showed an infiltrative osteolytic lesion with speckled calcification at the proximal tibia the clinical diagnosis of which favored chondrosarcoma. Incisional biopsy revealed an innumerable number of small globular shapes, whitish parasites. Histologically, the parasites were composed of a few layers of smooth muscle and several calcerous bodies that were enclosed within a single row of tegumental cells. The latter exhibited a wavy appearance and coated with microvilli. These morphologic findings confirmed the nature of these maldifferentiated larvae. The patient was treated by partial resection of the lesion. This should remind clinicians that parasitic infection of the bone can produce a tumor-like lesion.- - - - - - - - - - ranking = 7keywords = life (Clic here for more details about this article) |
8/66. Rapidly growing fibro-osseous pseudotumor of the digits mimicking extraskeletal osteosarcoma.Fibro-osseous pseudotumor of the digits is a rare benign lesion characterized histopathologically by a fibroblastic proliferation with foci of osseous differentiation. We report a case of fibro-osseous pseudotumor of the digits with a rapidly growing lesion in a 30-year-old woman. Because of its rapid growth and aggressive histopathological appearance, this lesion can be mistaken for a malignant neoplasm such as extraskeletal or parosteal osteosarcoma, despite its benign clinical behavior. For a soft tissue mass in the digit with a clinicopathological feature of pseudomalignancy, the clinician should consider fibro-osseous pseudotumor of the digits as a possible diagnosis, thereby avoiding inappropriately aggressive surgery.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/66. Dyschondrosteosis.The authors present three cases of dyschondrosteosis occurring in a single family unit. The characteristics of the "major" and "minor" forms of this genetically derived chondrosteodysplasia are described. The other members of the family examined presented no signs of the disease, but they were very young. The possibility of successful surgical correction of the deformities caused by dyscondrosteosis is stressed.- - - - - - - - - - ranking = 63.208973506757keywords = family, member (Clic here for more details about this article) |
10/66. A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg.We report an 8-year-old boy with a distinctive form of metaphyseal chondrodysplasia (MCD). He presented with moderate disproportionate short stature and bony swelling of his wrists, knees, and ankles. There were severe metaphyseal abnormalities with a honeycomb appearance affecting the distal tibiae and fibulae, proximal tibiae, distal femurs, distal ulnae and radii, and both hands. His thoracolumbar spine was normal. Radiological examination of the mother's forearms revealed widening of the distal radii and short ulnae with hypoplastic distal ends. Rosenberg and Lohr [1986: Eur J Pediatr 145:40-45] reported a four-generational kindred in which affected members had thickening of the wrist proximal to the styloid process of the ulna and thickening of the dorsum sellae. Although many of the radiographic features of this patient are those of MCD-Rosenberg, the skeletal features of our patient do not appear to represent any known classified forms of MCD.- - - - - - - - - - ranking = 0.7350144595817keywords = member (Clic here for more details about this article) |
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