workup, including a full-body CT scan. However, no primary malignancy was identified. The patient was also referred to a neurosurgeon and a lumbar puncture was performed. Initial cerebrospinal fluid (CSF) results indicated lymphocyte predominance, elevated protein levels and low glucose content. CSF cultures confirmed the presence of Cryptococcus neoformans and her serum cryptococcal antigen test also returned positive with titer of 1:160. Notably, the patient had no history of immunocompromising conditions such as HIV infection, intravenous drug use or steroid therapy. Though she reported only mild neck stiffness at that time, she was admitted to the hospital for treatment following her abnormal CSF results. She was initially treated with amphotericin B and flucytosine, and was
later transitioned to fluconazole, which resulted in gradual improvement of her clinical condition.
Discussion: This case highlights the diagnostic complexities of cryptococcal infection in immunocompetent adults. Initially, the suspicion of metastatic brain disease arose due to her MRI findings. However, further investigation through lumbar puncture and CSF analysis confirmed the infection. While cryptococcal infections are typically associated with immuno-compromised individuals, this case demonstrates their rare occurrence in otherwise healthy adults. Early diagnosis and timely initiation with anti-fungal therapy is crucial in preventing severe complications including hearing or vision loss and seizures.
DECODING VEXAS: THE HIDDEN CHALLENGES OF INFLAMMATION. Anisha Memdani, Hector R. Mena; Baton Rouge General Hospital, Baton Rouge, LA.
Introduction: VEXAS syndrome, described in 2020, is associated with impaired ubiquitination due to a somatic mutation of the UBA1 gene on the X-chromosome. The acronym VEXAS stands for Vacuoles in bone marrow, E1 enzyme, X-linked, Autoinflammatory, and Somatic mutation. Case: A 72-year-old man with chronic congestive heart failure and osteoarthritis was referred due to a suspected systemic inflammatory condition. Over three years, he experienced worsening fatigue, pancytopenia, and elevated mean corpuscular volume. Extensive investigations, including a bone marrow biopsy, were initially inconclusive. Dermatological symptoms began with a rash, fatigue, and night sweats, and he was diagnosed with Sweet syndrome. He had recurrent rashes that were diagnosed as cutaneous mastocytosis and leukocytoclastic vasculitis. He also experienced sensorineural hearing loss and recurrent ear and nose swelling during Sweet syndrome relapses. Over the next four months, he developed transfusion-dependent anemia, with hemoglobin levels ranging from 6.9 to 7.5 g/L, and underwent a repeat bone marrow biopsy which did not provide additional insights. Upon rheumatological evaluation, VEXAS syndrome was considered as
a possible diagnosis. Reviewing the latest bone marrow biopsy by the pathologist revealed the presence of vacuoles, confirming this aspect of the syndrome. UBA1 gene testing was sent to Mayo Clinic laboratory. The patient is currently referred to NIH for definitive management. Discussion: The UBA1 gene is crucial for ubiquitination, a key process in protein degradation, cellular signaling, and homeostasis. UBA1-related conditions have a prevalence of approximately 1 in 13,500 in the general population and 1 in 4,000 in men over 50 years old, with a high mortality rate of 60% within five years of diagnosis. This patient met nearly all clinical criteria for VEXAS, leading to an early diagnosis and referral. This case underscores the importance of considering rare genetic disorders in systemic inflammatory conditions. They highlight the need for increased awareness, early detection, and multidisciplinary management to improve outcomes for VEXAS syndrome patients. Collaboration among clinicians, geneticists, and researchers is vital for advancing understanding and refining treatments. Reporting such cases enhances collective knowledge and care for individuals with this challenging syndrome.
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