United States

Introduction:
Creutzfeldt-Jakob disease is a spontaneous neurodegenerative disease secondary to the accumulation of misfolded prion proteins depositing in neurons. Clinical findings include rapidly progressive dementia, myoclonus, sharp waves on EEG, and an akinetic mutism state. Creutzfeldt-Jakob disease is often mistaken for progressive multifocal leukoencephalopathy as the afflictions share many of the same symptoms; however, given the extremely high mortality rate of Creutzfeldt-Jakob disease, an accurate and early diagnosis is imperative. This is a case report of a patient misdiagnosed with progressive multifocal leukoencephalopathy and later found to have sporadic Creutzfeldt-Jakob disease via diagnosis after MRI.
Case Presentation:
A 62-year-old male with no significant past medical history presented for evaluation of rapidly progressive dementia and decreased oral intake. Four months prior at baseline, the patient was healthy and athletic but began experiencing dizziness and increasing falls. Imaging done two months prior to admission indicated Creutzfeldt-Jakob disease; however, after multiple examinations, the patient was diagnosed with progressive multifocal leukoencephalopathy via positive Human polyomavirus 2 (JC virus) serum and cerebrospinal fluid PCR tests. During a hospital stay, the progression of the condition led to failure to thrive and urinary and bowel incontinence. Upon resolution of the patient’s acute kidney injury, the patient underwent an MRI of the brain which showed restricted diffusion/cortical ribbon sign in bilateral bifrontal cortical gyri and restricted diffusion in the bilateral basal ganglia and pulvinar. &quot;Hockey-stick sign&quot; with restricted diffusion in the bilateral basal pulvinar and dorsal medial thalamus was also noted. These changes are consistent with the sporadic form of Creutzfeldt-Jakob disease. The patient was discharged home with palliative care.
Conclusion:
This case underlies the importance of rapid diagnosis and differentiation between progressive multifocal leukoencephalopathy and Creutzfeldt-Jakob disease as either has different morbidity and mortality risks. Studies have shown that stratifying the different types of rapidly progressive neurodegenerative conditions is influenced by hesitance to make a diagnosis with no treatment option versus diagnoses with viable treatment options. Biopsy remains the gold standard of diagnosis for JC virus; however, clinical imaging and cerebrospinal fluid PCR are more commonly used for the diagnosis due to their high specificity. These tests have a lower sensitivity, in which case, patients are often definitively diagnosed with biopsy ante or post-mortem. This case was characterized by clinical suspicion for Creutzfeldt-Jakob disease, but lack of access to medical records delayed repeat MRI and allowed the progression of the disease under the diagnosis of JC virus. Of note, there are no reported cases in the literature of false positive cases of JC virus which is representative of the high specificity of the tests.

AMA Research Challenge 2022

How to Distinguish Creutzfeldt-Jakob Disease from Progressive Multifocal Leukoencephalopathy when the Cerebrospinal Fluid Fails

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AMA Research Challenge 2025 

Join the AMA Research Challenge poster symposium and semifinals to explore top research posters and score posters in the semifinals (an AMA member exclusive opportunity).

Introduction:
Creutzfeldt-Jakob disease is a spontaneous neurodegenerative disease secondary to the accumulation of misfolded prion proteins depositing in neurons. Clinical findings include rapidly progressive dementia, myoclonus, sharp waves on EEG, and an akinetic mutism state. Creutzfeldt-Jakob disease is often mistaken for progressive multifocal leukoencephalopathy as the afflictions share many of the same symptoms; however, given the extremely high mortality rate of Creutzfeldt-Jakob disease, an accurate and early diagnosis is imperative. This is a case report of a patient misdiagnosed with progressive multifocal leukoencephalopathy and later found to have sporadic Creutzfeldt-Jakob disease via diagnosis after MRI.
Case Presentation:
A 62-year-old male with no significant past medical history presented for evaluation of rapidly progressive dementia and decreased oral intake. Four months prior at baseline, the patient was healthy and athletic but began experiencing dizziness and increasing falls. Imaging done two months prior to admission indicated Creutzfeldt-Jakob disease; however, after multiple examinations, the patient was diagnosed with progressive multifocal leukoencephalopathy via positive Human polyomavirus 2 (JC virus) serum and cerebrospinal fluid PCR tests. During a hospital stay, the progression of the condition led to failure to thrive and urinary and bowel incontinence. Upon resolution of the patient’s acute kidney injury, the patient underwent an MRI of the brain which showed restricted diffusion/cortical ribbon sign in bilateral bifrontal cortical gyri and restricted diffusion in the bilateral basal ganglia and pulvinar. "Hockey-stick sign" with restricted diffusion in the bilateral basal pulvinar and dorsal medial thalamus was also noted. These changes are consistent with the sporadic form of Creutzfeldt-Jakob disease. The patient was discharged home with palliative care.
Conclusion:
This case underlies the importance of rapid diagnosis and differentiation between progressive multifocal leukoencephalopathy and Creutzfeldt-Jakob disease as either has different morbidity and mortality risks. Studies have shown that stratifying the different types of rapidly progressive neurodegenerative conditions is influenced by hesitance to make a diagnosis with no treatment option versus diagnoses with viable treatment options. Biopsy remains the gold standard of diagnosis for JC virus; however, clinical imaging and cerebrospinal fluid PCR are more commonly used for the diagnosis due to their high specificity. These tests have a lower sensitivity, in which case, patients are often definitively diagnosed with biopsy ante or post-mortem. This case was characterized by clinical suspicion for Creutzfeldt-Jakob disease, but lack of access to medical records delayed repeat MRI and allowed the progression of the disease under the diagnosis of JC virus. Of note, there are no reported cases in the literature of false positive cases of JC virus which is representative of the high specificity of the tests.

poster

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Charles Lopresto, DO

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Abstract Title: Human intestinal spirochetosis in a patient with AIDS

Background: Although well-documented in veterinary literature, human intestinal spirochetosis (HIS), the infection of spirochetes in colonic mucosa, is less well-understood. The anaerobic spirochetes, namely Brachyspira species, have been identified as causative organisms. HIS is usually identified on colonic biopsy. Its clinical significance often depends on host immune system. Clinical presentation may range from asymptomatic colonization to invasion causing bloody diarrhea and abdominal pain. We present a patient with a discovery of intestinal spirochetosis on screening colonoscopy. 

Case Presentation: A 50-year-old American male with AIDS and undetectable HIV viral load presented for his first screening colonoscopy. He denied any gastrointestinal complaints such as abdominal pain, constipation, diarrhea, bleeding, or any change in bowel habits. He has one bowel movement per day. He is sexually active strictly with men and his last sexual activity was over one year ago. An uncomplicated colonoscopy was performed and revealed three hyperplastic polyps in the rectum and one hyperplastic polyp in ascending colon, which were removed. Histologic examination of the polyp found in the ascending colon revealed mucosal filamentous, densely packed spirochetes and no dysplasia or carcinoma. His CD4+ T-cell count was 190, and RPR and syphilis serologies were non-reactive. Rectal gonorrhea and chlamydia were negative within one year. Because the patient is asymptomatic, no treatment is currently planned. The patient was counseled regarding symptoms that warrant treatment, including bloody stools and changes in bowel habits, with close follow-up for symptom monitoring. 

Discussion: HIS is a rare finding, particularly in more developed countries. This patient was found to have asymptomatic spirochete colonization and elected to forego treatment at this time. However, intestinal spirochetes have the potential to invade and destroy colonic mucosa, causing more severe symptoms, particularly in those who are immunocompromised, such as HIV status. HIS has also been found at higher rates in men who have sex with men, and some reports suggest that it may be sexually transmitted depending on context. Therefore, we encourage practitioners following patients with asymptomatic HIS to have regular follow-ups for symptom monitoring, screen for other sexually transmitted infections, and be ready for treatment with metronidazole if symptomatic.


Human intestinal spirochetosis in a patient with AIDS

Invasive Aspergillosis Presenting as Endophthalmitis in Heart Transplant Recipient

Monkeypox is a re-emerging zoonotic disease of the orthopoxvirus genus presenting with myocutaneous symptoms similar to those caused by smallpox. Patients infected with monkeypox may experience a prodromal period with flu- like symptoms lasting between 1-4 days, an asymptomatic incubation period lasting 7-17 days and a symptomatic rash period lasting 14-28 days between the appearance of widespread vesiculopapular lesions and desquamation. Specific risk factors for the current monkeypox outbreak include HIV infection, prior STI infection, male sex, young-adult age (specifically being in the 20’s-30’s age group), engaging in risky behaviors (such as unprotected sex) and men having sex with other men. We report the case of a 38-year old HIV+ patient testing positive for monkeypox, COVID-19 and herpes who presented to the emergency department with widespread vesiculopapular lesions. One week prior to ED presentation, the patient experienced flu-like symptoms including fever and, two days later, developed a vesiculopapular rash beginning on his face and spreading downwards to his extremities, trunk and genitalia. The flu-like symptoms developed twelve days after attending an event where the patient reported having sex with multiple other men. The patient was treated with intravenous fluids and supportive care alongside his HIV medications. Nine days after initial ED presentation, all skin lesions were desquamated and the patient was discharged from the hospital. To our knowledge, this is one of the first reported cases of co-infection with COVID-19 and monkeypox in Florida and the United States more broadly. Despite our patient’s several risk factors for monkeypox infection, and immunosuppressed status, he experienced an uncomplicated clinical course. As vaccination and antiviral treatments become more available for monkeypox patients, our case suggests supportive care with airborne and contact precautions may be adequate in the treatment of future monkeypox patients where these treatments are unavailable.

Monkeypox Viral Infection and Management: A Case Report from Florida, USA, 2022

Infections due to nutritionally variant Streptococci, specifically with the Granulicatella genus, are rare, but can cause a range of severe infections, specifically with infective endocarditis. Here, we report a case of a 29-year-old woman who developed infective endocarditis secondary to Granulicatella adiacens and our approach to combination antimicrobial treatment. Granulicatella adiacans is specifically noted to have the highest infectivity within its genus, as it has the capacity to bind to cardiac tissue. Antimicrobial therapy typically includes ceftriaxone or penicillin while awaiting susceptibility studies. However, due to their altered nutritional requirements, it is difficult to identify, and is considered one of the causes of culture negative infective endocarditis. This therefore leads to delay in specific treatment, and an increased chance in morbidity and mortality.

Prosthetic Valve Endocarditis due to Granulicatella adiacens: A Case Report

Background: With the worldwide resurgence of secondary syphilis cases within the last decade, including in the United States, atypical presentations are being observed. Syphilis is called the "great imitator” due to its variable presentation affecting multiple organ systems. Thusly, remaining an elusive condition to diagnose especially in the United States, as it is a relatively uncommon disease despite its incidence dramatically increasing since 2000. Syphilis is caused by the bacterium Treponema Pallidum and is clinically subdivided into three stages: primary (a painless chancre at an inoculation site), secondary (rash, lymphadenopathy, and constitutional symptoms), and tertiary (cardiovascular or central nervous system involvement). Although extremely rare, cases have been reported of syphilis affecting the kidney causing proteinuria and various kidney injuries.

Case Presentation: We present the case of a 37-year-old male who presented with flulike illness with fever, chills, arthralgias and was noted to have acute renal insufficiency. Due to the uncertain etiology of his acute renal insufficiency, the patient underwent renal biopsy, which revealed membranous glomerulonephritis. He was ANA positive and initially started on prednisone and mycophenolate mofetil for suspected lupus nephritis. Due to an accelerating rash presenting on the patient’s palms and soles, RPR was obtained. He received a single dose of intramuscular (IM) penicillin with resolution of rash and normalization of his renal function. Social history was remarkable for multiple sexual partners in the past year and negative HIV and hepatitis panels.

Discussion: Although kidney involvement is well described in literature in congenital syphilis, there is still sparse literature regarding histopathologic changes in adult patients. Current literature suggests that there is much variability of renal manifestations of syphilis including rapidly progressive glomerulonephritis (RPGN) and syphilis-associated crescentic glomerulonephritis. Membranous nephropathy is the most described lesion amongst these rare presentations. Recovery usually follows treatment with IM penicillin and due to its vague nature, often it is initially erroneously suggestive of connective tissue disease versus infectious etiology. We recommend that syphilis be considered in the differential diagnosis of sexually active patients with proteinuria or suspected glomerulonephritis.

Secondary Syphilis Masquerading Lupus Nephritis Heralding Diagnosis of Membranous Glomerulonephritis

Background: Chronic Abdominal Wall Pain is a poorly recognized, debilitating, clinical problem that is often difficult to treat. Few clinical trials are available in regards to management of this condition. Injection of local anesthesia in combination with steroids provides relief for some patients, and when pain persists despite these treatments, neurectomy is an option. We report the first case of a transnasal sphenopalatine ganglion block that repeatedly provided greater than 80% pain relief for a patient suffering from intractable Chronic Abdominal Wall Pain.

Case Presentation: A 28-year-old female with Crohn's disease and asthma presented with intractable chronic abdominal wall pain after several abdominal surgeries. The patient reported 1.5 years of “very severe,” constant, left upper quadrant abdominal pain that was exacerbated by all physical activity and was significantly affecting her quality of life. Imaging did not demonstrate any pathologic abnormality. Physical/occupational therapy, muscle relaxants, selective serotonin reuptake inhibitors, transcutaneous electrical nerve stimulation, trigger point injections, transversus abdominis plane block, and surgery provided minimal relief. Considering that the sphenopalatine ganglion block (SPGB) has previously been shown to relieve pain of various etiologies, we offered it to this patient. Long cotton-tips were soaked in viscous Lidocaine 2% and were advanced, atraumatically, into each nasal sinus until gentle resistance was met, and left in place for a total of 15 minutes, while the patient was supine. This process was repeated two more times, for a total of 45 minutes. After the first SPGB session, the patient, for the first time, had 80% pain relief that lasted for 3 weeks, with significant improvement in her daily function. Since then, the patient has been receiving this block monthly and each time experiencing the same effect, with sometimes even more than 80% pain relief. The patient reports that this is the only treatment that has so far provided her significant benefit.

Discussion: Chronic Abdominal Wall Pain is often difficult to manage with physical/occupational therapy, analgesic medications, and invasive procedures.
This case report demonstrates that the lidocaine sphenopalatine ganglion block could be a simple, safe, non-expensive, and non-invasive treatment option for those affected by chronic abdominal wall pain.



Chronic Abdominal Wall Pain Relieved by Sphenopalatine Ganglion Block

Rare vallecular cysts can have severe consequences in an anesthetized patient. The presence of a vallecular cyst makes obtaining and maintaining an airway difficult. We report a case of an unexpected difficult airway of a 9-year-old boy who presents for an MRI of the brain with and without contrast, to rule out a structural cause for his nocturnal headaches. After sedation, the patient’s airway completely obstructed and was later found to be due to the presence of a vallecular cyst. This case report will detail the management of an unexpected difficult airway in a remote location. 


Unexpected Difficult Airway in a Remote Location: Vallecular Cyst

Background: Myocarditis has been a rare, but well-documented side effect of the mRNA-based vaccines against SARS-CoV-2 as well as a complication of viral infections including SARS-CoV-2. However, myopericarditis as a complication of monoclonal antibody infusion or as complication of allergic reaction to antibody infusions might be and underreported.

Case presentation: In this case, we report a 30-year-old man with a previous diagnosis of COVID infection 1 week prior to presentation, unvaccinated for SARS-CoV-2 who was referred from a monoclonal infusion center where he received casirivimab and imdevimab and 15 minutes after infusion began to complain of chills, chest pain, shortness of breath and was hypotensive. While in the infusion center he received epinephrine, Benadryl and was directed to the emergency room. While in the ER, patient was febrile, tachycardic, and hypotensive. Initial troponin was 1.91 which peaked at 11.73 with the CK-MB that peaked at 21.2. EKG had no ischemic changes. First two-dimensional echocardiogram showed an ejection fraction of about 45%, with a left ventricular dysfunction and trivial posterior pericardial effusion. Diagnosed as myopericarditis. On admission he was started on full dose lovenox, aspirin, fluid resuscitation, steroids, remdesevir and bipap due to his respiratory compromise. 3 Days later with clinical improvement, repeat 2-d echocardiogram with EF of 65%, with normal ventricular contractility and no pericardial effusion. Patient was discharged home with close cardiology follow up.

Conclusions: Though this could be simple case of viral myopericarditis with troponinemia secondary to demand-ischemia, the differential should be broadened to complication of monoclonal antibody, given the sudden symptom onset after infusion completion and/or a possible Kounis syndrome. Though there have not been any reported cases of casirivimab and imdevimab causing myopericarditis, adverse cardiac events after monoclonal therapy have been reported mainly in cancer patients receiving monoclonal infusions.


A Case of Possible Casirivimab/Imdevimab Induced Myopericarditis in a COVID Positive Young Male

A Case of Romano-Ward Congenital Long QT Syndrome in Mother and Daughter

Cardiac malignancies are exceedingly rare, with metastatic disease more common than primary tumors. Regardless of origin, cardiac tumors have insidious clinical presentations, from mild chest pain to florid heart failure depending on the size and location of the tumor. We present an unusual case of cardiac disease. 
A 56-year-old woman with a history of stage I uterine leiomyosarcoma status post chemotherapy and hysterectomy presented with epigastric discomfort eight years after cancer remission. CT chest demonstrated a heterogeneously enhancing mass in the right atrium accompanied by a large pericardial effusion and regional lymphadenopathy. She underwent pericardiocentesis due to tamponade physiology, but no malignant cells were seen on cytologic analysis. Subsequent CTA of the heart and cardiac MRI confirmed an 8.2 cm x 6.3 cm hypervascular tumor in the anterior pericardial space that straddled the right heart, compressing the atrium and ventricle, and encasing the right coronary artery. Pericardial mass core biopsy was consistent with leiomyosarcoma. One month after diagnosis, she was admitted to the hospital to start the first cycle of neoadjuvant chemotherapy with mesna, adriamycin, ifosfamide, and dacarbazine. During the first cycle, she developed episodes of non-sustained ventricular tachycardia concerning for an arrhythmogenic effect of the mass versus the cardiotoxic effects of chemotherapy. She was started on a low dose beta-blocker. Following completion of three cycles of chemotherapy, she is planned for tumor restaging and potential surgery. 
Although rare, cardiac tumors should be considered in patients with a history of malignancy, and given the anatomic location of the heart, cardiac pathology should remain on the differential for epigastric pain. Having a high index of clinical suspicion can lead to more rapid identification, especially with advancements in imaging techniques such as cardiac MRI and CTA. Leiomyosarcomas are aggressive tumors, and symptoms may only arise once the tumor is at an advanced stage, as in this patient. Prompt initiation of chemotherapy and surgical resection can improve overall prognosis. Ultimately, this patient requires close coordination between the cardiology, oncology, and cardiothoracic teams to provide the most optimal care.

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Human intestinal spirochetosis in a patient with AIDS

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