RESUMEN
Invasive infection with Lancefield group C streptococci in humans is extremely rare, with the vast majority of clinical isolates belonging to Streptococcus dysgalactiae subsp. equisimilis. We report a case of meningoencephalitis in a 69-year-old man caused by Streptococcus equi subsp. equi, a microbe that causes strangles in Equus caballus (i.e., the horse). This is only the fourth infection with this subtype of the central nervous system (CNS) reported in humans. The invasiveness of these bacteria, known to be capable of releasing strongly immunogenic exotoxins, is illustrated by white matter lesions that are present in the acute phase. This patient initially recovered well after treatment with antibiotics and glucocorticoids. However, the patient was readmitted 5 months later with multiple intraparenchymatous cerebral haemorrhages. Cerebral angiography confirmed the presence of a suspected superficial dural arteriovenous fistula (DAVF), which is seldom reported after CNS infection. The invasiveness of these bacteria was illustrated by white matter lesions present in the acute phase and the occurrence of a de novo dural arteriovenous fistula in the follow-up period.
Asunto(s)
Esclerosis Amiotrófica Lateral , Fibras Musculares Esqueléticas/diagnóstico por imagen , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Esclerosis Amiotrófica Lateral/fisiopatología , Endosonografía , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patologíaRESUMEN
Aicardi-Goutières syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutières syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutières syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutières syndrome-with a concomitant low risk of recurrence.
Asunto(s)
Encefalopatías/genética , Exodesoxirribonucleasas/genética , Fosfoproteínas/genética , Proteínas/genética , Adolescente , Sustitución de Aminoácidos , Asparagina/genética , Ácido Aspártico/genética , Encefalopatías/patología , ADN/genética , ADN/aislamiento & purificación , Femenino , Tamización de Portadores Genéticos , Humanos , Músculo Esquelético/patología , MutaciónRESUMEN
In this study, we examined the correlation between muscle ultrasound and muscle structure. Echo intensity (EI) of 14 muscles of two golden retriever muscular dystrophy dogs was correlated to the percentage interstitial fibrous tissue and fat in muscle biopsy. A significant correlation between interstitial fibrous tissue and EI was found (r = 0.87; p < 0.001). The separate influence of interstitial fat on muscle EI could not be established as only little fat was present. We conclude that fibrous tissue causes increased muscle EI. The high correlation between interstitial fibrous tissue and EI makes ultrasound a reliable method to determine severity of structural muscle changes.