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A case report of Background: Most cases of lymphoedema are secondary to other causes, while cases of primary lymphoedema, in particular that of congenital origin, are uncommon. Limited genetic disorders are so far known to be associated with lymphatic malformation including mutations in RASA1. This clinical case highlights the possible complications of RASA1-associated lymphatic malformation in a female suffering from recurrent life-threatening septic lymphangitis. Case summary: A 23-year-old female patient presented with congenital lymphoedema of the lower right extremity. At the age of eight, she first suffered from an episode of lymphangitis. Thereafter, she developed recurrent episodes of lymphangitis predominately occurring during menstruation and culminating into severe and life-threatening septicaemias. Due to the menstrual association, endometriosis was suspected but could not be confirmed. Furthermore, angiography could not detect any sign of arteriovenous fistula. Single-Photon-Emission-Computed-Tomography confirmed absent major lymphatics of the right leg with severely impaired and prolonged dermal lymphatic backflow. Genetic testing identified a disease-causing variant in the RASA1 gene. Discussion: To our knowledge, this is the first case of recurrent septic lymphangitis with close relation to menstruation in a female with RASA1-associated lymphatic malformation. Due to the possible de novo or somatic origin of a pathogenic variant, a genetic disease should be considered in spite of an unremarkable family history or a localized lymphoedema. Although there is no curative therapy available yet, the knowledge of the underlying genetic defect is important for interdisciplinary patient care and might be crucial for individual molecular therapies in the future.
A case report of Background : Histoplasma capsulatum is an extremely rare cause of prosthetic valve endocarditis (PVE) and can present with non-specific symptoms leading to a delay in diagnosis with unfavourable outcomes. Case summary : A 65-year-old male patient with a history of a bioprosthetic aortic valve replacement and non-obstructive coronary artery disease was admitted for altered mentation, failure to thrive, and a 20-pound unintentional weight loss over the past 4 months. Upon examination, he was lethargic but afebrile and haemodynamically stable. A late peaking ejection murmur was heard on exam. Skin exam was significant for embolic phenomenon involving the extremities. Inflammatory markers and serum calcium were elevated. A bedside echocardiogram showed severe obstruction across the aortic valve prosthesis. Two years prior, he had an echocardiogram with a normal functioning prosthesis. Routine blood cultures were negative and serologic screening was unrevealing. Urine Histoplasma antigen screen was positive on hospital day 3 and on hospital day 10, fungal blood cultures were positive for H. capsulatum. Unfortunately, the patient died shortly afterwards as a result of multiorgan failure from embolic manifestations of the infection. Discussion : Based on our patient's findings and those of previously reported cases in the literature, H. capsulatum PVE should be strongly considered in patients from endemic areas with non-specific symptoms and negative routine blood cultures.