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Proceedings (Baylor University. Medical... 2024Mucormycosis is an invasive fungal infection that can cause acute clinical decompensation and death. The literature demonstrates case fatality rates around 50% with...
More than meets the eye: rhino-orbital cerebral mucormycosis with diabetic ketoacidosis presenting as periorbital edema resulting in orbital exenteration and maxillectomy.
Mucormycosis is an invasive fungal infection that can cause acute clinical decompensation and death. The literature demonstrates case fatality rates around 50% with differential clinical courses contingent upon anatomical incursion. Rhino-orbital cerebral mucormycosis represents a rapidly hostile variant with poorer outcomes, warranting prompt recognition, workup, and intervention. It is seldom included in differential diagnoses in those with head and neck pathology within the inpatient setting as diagnostic parsimony and low prevalence lead this entity to be often overlooked. Given the acuity and risk factors involved, considering mucormycosis may be prudent during the assessment of hyperglycemic or immunodeficient patients exhibiting maxillofacial disease. When acquiring histories of presenting illness and performing physical examinations, assessment includes mindfulness of diabetes mellitus, craniofacial lesions, and alertness to clinical deterioration. Given the rising incidence of complicated diabetes mellitus in conjunction with a paucity of mucormycosis reports noting the orbit as the diagnostic harbinger, we report the case of a 59-year-old woman admitted to the critical care setting for diabetic ketoacidosis and altered mental status. Physical examination revealed a swollen orbit, later diagnosed as mucormycosis with associated sino-orbit involvement and cranial nerve deficits warranting urgent and extensive facial debridement.
PubMed: 38343486
DOI: 10.1080/08998280.2023.2298183 -
Frontiers in Pediatrics 2024Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4...
Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is one of the rare innate immunodeficiency disorders. We present the case of a patient who presented at the age of 15 days with meningitis and septic shock that responded to antibiotics. She was admitted again at the age of 45 days with bacteremia that was associated with increased inflammatory markers. Her third admission was at the age of 2.5 months due to left sided peri-orbital cellulitis that was again associated with elevated inflammatory markers. At 3.5 months, she experienced left orbital cellulitis, which was complicated by extensive sinus involvement, erosion, and abscess formation in the pterygopalatine fossa. Her condition progressed to septic shock and required multiple antibiotics and surgical interventions for drainage and control of the infection source. Both abscess and blood culture were positive for . An IEI was suspected but basic immunology testing was normal. Whole Exome Sequencing was performed and a novel mutation in IRAK4 was detected. In conclusion, we highlight the importance of raising awareness among pediatricians about the potentially lethal IEI and the need to consult specialists when these diseases are suspected. Among them is IRAK-4 deficiency which can be diagnosed by sophisticated functional assays and/or genetic testing.
PubMed: 38487470
DOI: 10.3389/fped.2024.1340367