Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A blow-in fracture is an inwardly displaced fracture of the orbital rim or wall resulting in decreased orbital volume. The purpose of this study is to classify orbital blow-in fractures, describe the distinguishing clinical and radiologic features, and review the result of treatment. The series consists of 41 patients with blow-in fractures (34 males and 7 females). The mean age of the patients was 36 years. All were treated between 1979 and December of 1986 at Sunnybrook Medical Centre in Toronto. Clinical features of blow-in fractures were primarily related to the decrease in volume of the orbital cavity. Proptosis was a consistent finding, and in 27 percent of patients, the globe was further displaced in a coronal plane. Restricted ocular motility and diplopia were documented in 24 and 32 percent of patients, respectively. Fracture fragments displaced into the orbit resulted in globe rupture in 12 percent of patients, superior orbital fissure syndrome in 10 percent, and optic nerve injury in 1 patient. Blow-in orbital injuries were classified as pure fractures, consisting of an isolated blow-in of a segment of the roof, floor, or walls, or impure fractures, where the orbital rim itself was disrupted. In all cases, early decompression of the orbit and open reduction of fractures was necessary. Late sequelae of blow-in fractures were primarily related to injuries of intraorbital contents. Twelve percent of patients underwent enucleation and 8 percent reported persistent diplopia. Despite the presence of superior orbital fissure syndrome and complete ophthalmoplegia in 10 percent of patients, early orbital decompression resulted in resolution of nerve palsies in all but one patient.
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PMID:Blow-in fractures of the orbit. 273 85

Two brothers, a seven-year-old male and a nine-year-old female are reported. Clinical features include scholar troubles and clumsiness, hepatosplenomegaly, vertical supranuclear ophthalmoplegia and ataxic gait. Moreover, the girl showed intention tremor. Foamy histiocytes were seen in bone marrow and some Niemann-Pick type Kupffer cells were present in liver. Girl's conjunctival biopsy showed lamellar inclusions. Biochemical studies were performed in girl's skin and liver biopsies. Sphingomyelinase activity assayed with 14C sphingomieline in cultured skin fibroblasts was 26% at the mean control value. Liver lipid composition did not show an appreciable increase of sphingomyelin or cholesterol, but bis (monoacylglyceryl) phosphate was clearly elevated. These data are compatible with Niemann-Pick disease type C.
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PMID:[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis]. 301 38