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Gas gangrene is a bacterial infection that produces gas in tissues. It is fast spreading, potentially life-threatening and needs to be addressed promptly. In this case report, we present a patient that presented with gangrene of his left foot. He was first seen in the emergency room where blood cultures and x-rays were obtained. The patient was then promptly treated with OR debridement of the site and the cultures obtained intraoperatively revealed a rare organism, Klebsiella ornithinolytica (currently called Raoultella ornithinolytica ). In addition to the OR debridement, the patient was treated with 6 weeks of IV antibiotics. [ABSTRACT FROM AUTHOR]

Mutations in mitochondrial aminoacyl-tRNA synthetases are an increasingly recognized cause of human diseases, often arising in individuals with compound heterozygous mutations and presenting with system-specific phenotypes, frequently neurologic. FARS2 encodes mitochondrial phenylalanyl transfer ribonucleic acid (RNA) synthetase (mtPheRS), perturbations of which have been reported in 6 cases of an infantile, lethal disease with refractory epilepsy and progressive myoclonus. Here the authors report the case of juvenile onset refractory epilepsy and progressive myoclonus with compound heterozygous FARS2 mutations. The authors describe the clinical course over 6 years of care at their institution and diagnostic studies including electroencephalogram (EEG), brain magnetic resonance imaging (MRI), serum and cerebrospinal fluid analyses, skeletal muscle biopsy histology, and autopsy gross and histologic findings, which include features shared with Alpers-Huttenlocher syndrome, Leigh syndrome, and a previously published case of FARS2 mutation associated infantile onset disease. The authors also present structure-guided analysis of the relevant mutations based on published mitochondrial phenylalanyl transfer RNA synthetase and related protein crystal structures as well as biochemical analysis of the corresponding recombinant mutant proteins. [ABSTRACT FROM AUTHOR]