Challenging differential diagnosis, Rare disease, Clinical situation which can not be reproduced for ethical reasons
Phillip A. Kubica, William M. Rehrauer, Alana K. Sterkel
Department of Pathology and Laboratory Medicine, University of Wisconsin Hospitals and Clinics, Madison, WI, USA
Am J Case Rep 2020; 21:e921562
Available online: 2020-04-09
Actinomucor elegans is an unusual cause of mucormycosis and can be difficult to identify by conventional methods. Mucormycosis has a very high mortality rate, especially among immunocompromised individuals. Due to the morbid and progressive nature of opportunistic fungal infections, early diagnosis is paramount for effective disease management. Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI) and Sanger sequencing are useful methods for rapid diagnosis of unusual fungal pathogens.
CASE REPORT: We report a fatal case of mucormycosis caused by A. elegans in an immunocompromised man. The pathogen was isolated from a large nasal septal black eschar that developed rapidly during tooth extraction in a patient with myelodysplastic syndrome and diabetes mellitus. After unsuccessful identification by conventional methods, A. elegans was identified using MALDI and Sanger sequencing.
CONCLUSIONS: Diagnosing fungal organisms poses many difficulties, but amidst the technological evolution in pathogen identification, there are useful methods for rapid identification, including MALDI and sequencing. With these powerful tools, earlier diagnosis will give health professionals an advantage against potentially fatal fungal infections.
Keywords: mucormycosis, Myelodysplastic-Myeloproliferative Diseases, Sequence Analysis, DNA, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization