ABSTRACT
A femoral vein thrombosis, originally diagnosed with conventional ultrasound, was fully elucidated and monitored utilizing serial high-resolution magnetic resonance venography in a 19-year-old female with a family history of venous thromboembolism. Genetic testing revealed she was heterozygous for a F5 gene mutation, an abnormality that predisposes carriers to factor V Leiden thrombophilia. An additional risk factor included use of oral contraceptive pills. Subsequent testing of her family uncovered other carriers of the mutation, allowing for the implementation of preventive measures for the entire family. Although magnetic resonance venography has not yet proven to be a cost-effective method for monitoring clot resolution, the case presented here encourages further research on the clinical utility and cost-benefit of utilizing this technology for monitoring venous thrombosis and for clinical management purposes.
Subject(s)
Factor V/genetics , Magnetic Resonance Angiography , Pelvis/blood supply , Phlebography/methods , Venous Thrombosis/diagnosis , Venous Thrombosis/genetics , Anticoagulants/therapeutic use , Contraceptives, Oral, Hormonal/adverse effects , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Genetic Testing , Heterozygote , Humans , Mutation , Pedigree , Predictive Value of Tests , Risk Factors , Venous Thrombosis/drug therapy , Young AdultABSTRACT
Two autistic children with a chromosome 15q11-q13 inverted duplication are presented. Both had uneventful perinatal courses, normal electroencephalogram and magnetic resonance imaging scans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis. Both had muscle mitochondrial enzyme assays that showed a pronounced mitochondrial hyperproliferation and a partial respiratory chain block most parsimoniously placed at the level of complex III, suggesting candidate gene loci for autism within the critical region may affect pathways influencing mitochondrial function.