Background: Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease.
View Article and Find Full Text PDFIntroduction. Urinary sodium has been proposed as a prognostic marker and indicator of the diuretic response in patients with heart failure. However, study results are heterogeneous.
View Article and Find Full Text PDFWunderlich syndrome (WS) is a rare, potentially life-threatening medical condition characterized by spontaneous renal or perinephric hemorrhage occurring in the absence of known trauma. WS usually presents as Lenk's triad: acute flank pain, flank mass sensation, and hypovolemic shock; however, the presentation of this condition can vary in terms of symptom type and duration. We present the case of a 23-year-old previously healthy woman who consulted our emergency department with an unusual subacute form of presentation of WS (eight days of pain) due to an angiomyolipoma.
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