Level Of Suspicion Research Articles

Epidemiology and Outcomes of Soft Tissue Sarcomas: Insights from a Decade of Head and Neck Surgery at Sótero del Río Hospital, Santiago, Chile

Soft tissue sarcomas (STS) are rare malignant tumors of mesenchymal origin. They are associated with genetic and environmental risk factors. Their clinical manifestations are nonspecific, requiring a high level of suspicion. The first-line treatment is surgical. Positive margins are the only independent predictor of local recurrence and worse survival rates. Strict follow-up is recommended due to its high recurrence rate. Analyze the casuistry of STS treated with curative intent by the head and neck surgery team at the Sótero del Río Hospital (HSR) at Santiago, Chile between 2013 and 2023. A retrospective, descriptive study of patients with STS managed by the HSR head and neck surgery team. Clinical presentation, diagnostic and therapeutic tools, and oncological results are analyzed. 26 patients were included, 84.6% female, with an average age of 61.7 years. Only 30.8% presented identifiable risk factors. The most common histology was undifferentiated pleomorphic sarcoma (26.9%), and the predominant location was extremities (46.2%). 77.8% of head and neck sarcomas and 58.8% of trunk and extremity sarcomas occurred in advanced stages. Disease-free survival was 66.6%; 68.2% in patients with negative surgical margins, and 60.0% in positive margins at five years. STS is an infrequent pathology. This study corresponds to the first retrospective research on STS in Chile. We require establishing a specialized multidisciplinary team to optimize the management and follow-up of STS patients.

Arachnoid cyst presenting as a neurosurgical emergency: a case report

Introduction: Arachnoid cysts are intra-arachnoid lesions filled with cerebrospinal fluid. They account for ~1% of all intracranial mass lesions and are non-neoplastic collections of cerebrospinal fluid within an anomalous arachnoid enclosure. Case presentation: The authors report a 35-year-old Arabian male who presented to the ER with a history of sudden loss of consciousness, anisocoria, and right hemiparesis. Contrast tomography showed a large frontoparietotemporal cyst (7.7×5.8×5.4) with uncal herniation and a midline shift of 12 mm. An emergency left FTP craniotomy with an excision of the cyst was performed. Discussion: Arachnoid cysts can be categorized as primary or secondary, arising congenitally or due to factors like trauma, infection, or neoplasia. It can rupture, leading to internal bleeding, causing symptoms such as headaches, seizures, and neurological decline. Rapid diagnosis is vital, with cranial computed tomography scans preferred for emergencies. Treatment options include surgical intervention like craniotomy, fenestration, or cyst peritoneal shunts. For uncal herniation, surgery can be successful and results depends on the amount of herniation. Conclusion: Although benign, the arachnoid cysts led to uncal herniation when they become ʻtensionʼ cysts. A high level of suspicion is crucial for early recognition of the condition. Timely intervention has shown positive recovery outcomes.

Cervical Angina as a Neglected Symptom of Cervical Spine Pathologies: Retrospective Observational Study

Objective: The objective is to assess the incidence of cervical angina as presentation of cervical spine pathologies. Materials and Methods: Data were collected retrospectively from patients’ medical records from January 2018 to December 2022 who presented to our pain clinic with chest pain, neck pain, upper extremity pain and tingling numbness. A total of 168 patients with cervical spine pathologies were identified. Those having chest pains were analyzed subsequently treated with pharmacotherapy, intramuscular stimulation (IMS). Cervical epidural adhesiolysis was performed depending on spine pathology based on clinical picture, severity of symptoms and radiological findings. Results: Among 168 patients 25 had chest pain. Out of 25 patients, 18 (72%) had chest pain as presenting symptom and 7 (28%) patients had associated chest pain. All 25 patients had cervical radiculopathy with or without nerve compression. Nerve root involved were C4 in 4 patients, C5 in 16 patients, C6 in 22 patients, and C7 in 8 patients, commonly involved were C5 and C6 with C4-C5 and C5-C6 prolapsed intervertebral disc. Thirteen patients (52%) were treated with pharmacotherapy and physiotherapy; seven (28%) patients had 2–3 sessions of IMS with pharmacotherapy. Five patients (20%) had undergone cervical epidural adhesiolysis, where conservative management failed. Conclusions: Even though cervical angina is an underdiagnosed disease, pain physicians and spine surgeons should be familiar with it for diagnosis and treatment. Cervical angina is associated with broad range of cervical spinal pathologies; the most common is cervical disc herniation. It can be easily diagnosed with high level of suspicion and treated with pharmacotherapy, IMS, and cervical epidural adhesiolysis.

Challenges in Diagnosis of Steatohepatitic Hepatocellular Carcinoma on a Biopsy Specimen

Abstract Introduction/Objective Hepatocellular carcinoma (HCC) is the most common primary liver tumor. Steatohepatitic hepatocellular carcinoma (SH-HCC) is a subtype that is associated with metabolic syndrome and alcoholic hepatitis. Diagnosing SH-HCC can be extremely challenging on a biopsy specimen, given that steatohepatitis-like changes can be seen in focal nodular hyperplasia and hepatic adenoma. Herein, we present a very challenging case of SH-HCC that was initially diagnosed as a well-differentiated lesion after multi-institutional consultations. Methods/Case Report A 54-year-old female with past medical history of diabetes and hypertension presented with flank pain and a 2.7 cm liver mass in a background of diffuse hepatic steatosis by CT scan, concerning for malignancy. Viral hepatitis serology workup was negative. Results (if a Case Study enter NA) The liver core biopsy reveals a well-differentiated hepatic lesion with areas of steatosis, fibrosis, and features of steatohepatitic changes including ballooning hepatocytes and Mallory-Denk bodies. No significant cytological atypia is identified. No definitive loss of reticulin is seen by reticulin stain. The cytological or architectural atypia was insufficient in isolation to diagnose HCC. The lesion cells are positive for HepPar-1 and Arginase-1, while negative for Glypican. Diffuse sinusoidal CD34 staining is present. Ki-67 proliferative index is approximately 2%. These changes did not permit a confident diagnosis of hepatic adenoma or hepatocellular carcinoma. The case was sent for consultation by multiple institutions with a consensus diagnosis of well-differentiated hepatic lesion/neoplasm. A follow-up liver wedge resection shows a hepatic neoplasm with areas of loss of reticulin staining. Focal stromal invasion is present. The neoplastic cells are positive for HepPar-1, Arginase-1, glutamine synthetase and Glypican (patchy). Final diagnose was rendered as SH-HCC. Conclusion The diagnosis of SH-HCC requires high level of suspicion on a biopsy specimen, especially in a background of steatohepatitis. A reticulin stain and immunohistochemical stains may not be helpful. Clinical- radiological correlation should always be considered.

Surviving Multiple Cardiac Arrests Secondary to Catastrophic Sero-Negative Antiphospholipid Syndrome: A Case Report

Antiphospholipid syndrome (APS) is an autoimmune disorder which predisposes to venous and arterial thrombosis due to the autoantibodies targeting phospholipids in cell membranes contributing to a pro-thrombotic state. The appropriately named catastrophic anti-phospholipid syndrome (CAPS) is distinguished from classical APS by the rapid involvement of 3+ organs, evidence of areas of small vessel occlusions, and significantly elevated anti-phospholipid titers (Cervera, 2018). To further complicate the matter, there is a growing body of evidence of the existence of sero-negative APS (SNAPS) that are negative for the classical lupus anticoagulant, anticardiolipin antibody (aCL), and anti-beta2 glycoprotein-I but may be positive for non-criteria APS antibodies. Presented below is a patient with SNAPS who responded to the therapy for CAPS despite negative classical autoantibodies. A 34 year old man with a past medical history of chronic alcohol use presented to the ED with a two day history of worsening shortness of breath. The patient was found to have an spO2 of 45-50% on room air and was quickly transitioned to a non-rebreather and subsequently BIPAP. Initial CBC was significant for WBC 22.1, Hg 19.3, Hct 58.5, MCV 100.8, and platelets of 166 consistent with neutrophilic leukocytosis and macrocytic polycythemia. D-dimer >20 was suggestive recent/on-going coagulation and/or fibrinolysis. Due to worsening respiratory failure, he was intubated and admitted to the ICU. While on 3 vasopressors he became bradycardic and a code blue was called for pulseless electrical activity (PEA). After 3 rounds of CPR he achieved return of spontaneous circulation (ROSC) and was taken for urgent CT imaging. After arriving in the radiology department he went into cardiac arrest for two rounds of CPR before achieving ROSC and being scanned and returning to the ICU. Polycythemia tests were drawn which revealed elevated erythropoietin of 52.1 (2.6-18.5) and ultimately negative JAK2. Chest CTA was significant for a PE with a heavy clot burden involving the entire right lung and the left upper and lower lobes. CT C/A/P showed findings of bilateral lower lobe pneumonia, severe gastritis, pancolitis, proctitis, pancreatitis with a 4.6cm pseudocyst, and fatty liver with congestive enhancement. Tissue-type plasminogen activator (tPA) bolus and infusion was initiated based on the imaging findings with the third cardiac arrest occurring 7 minutes later early in the morning. Repeat CBC revealed an Hgb/Hct of 22.2 g/dL and 71.5%, respectively, with a significant drop in platelets down to 103 with occasional large platelets consistent with peripheral destruction of platelets was noted on peripheral blood smear (PBS). Therapeutic phlebotomy of 300mL was subsequently performed with two additional cardiac arrests within 2 hours of each other before vascular surgery was able to perform thrombectomies of the involved pulmonary arteries and initiate catheter-directed thrombolysis. Platelet count dropped while on heparin to 25,000 so a HIT panel was ordered and he was transitioned to argatroban. At this point hematology was consulted who was concerned for CAPS and ordered aPL (anti-phospholipid) tests along with an appropriate panel of labs to rule out alternative causes. Peripheral blood smear did not reveal fragmentation of RBC to suspect TTP. Tests for ACL IgG/IgM and anti-beta2GPI IgG/IgM antibodies, COVID, HIV, ADAMTS deficiency, hereditary thrombophilia, and ANA were negative. High-dose steroids and daily plasma exchanges via vascath was initiated and within 12 hours there was significant improvement. He was extubated and off pressors in 24 hours with improved platelets. Lupus anticoagulant test results were reported after discharge with dVVT mix and PTT LA mix both being prolonged, however, repeat lupus anticoagulant 3 months later was negative. Given the potentially catastrophic effects of a missed CAPS diagnosis, a high level of clinical suspicion is needed as plasma exchange can quickly alleviate an otherwise disastrous condition. Further research into non-criteria APS autoantibodies (IgA)may be able to help guide future SNAPS diagnoses.

Del(20q) As a Somatic Gene Rescue in Adult Patients: Can Germline Mutations Other Than SBDS be Found in Affected Patients?

Deletions involving chromosome 20 (20q-) are present in up to 5-8% of myeloid neoplasms (MN) and have been associated with either myelodysplastic (MDS) or myeloproliferative (MPN) features, chiefly myelofibrosis. Theoretically, any chromosomal deletion may result in haploinsufficient expression of tumor suppressor genes (TSGs) or in loss of a protective allele in heterozygous carriers of germline (GL) variants or heterozygous somatic (SM) mutations. However, deletions have also been implicated as a maladaptive somatic gene rescue (SGR) event in carriers of GL bone marrow failure (BMF) genes such as SAMD9 and SBDS. The latter is found in Shwachman-Diamond syndrome whereby the upregulated EIF6 gene, responsible for hematopoietic dysfunction, is clonally removed by SM 20q deletion event. We identified an interesting 35-years-old patient with mild cytopenia and 20q- in which a cryptic homozygous SBDS c.A148T GL mutation was found. This prompted us to search in other adult patients with 20q deletion for: i) other cases with SBDS gene alteration (both hetero and homozygous), ii) other GL variants which could be clonally relieved by compensatory 20q- or, iii) disease-prone GL variants on 20q, whereby either disease-prone suppressive allele is included in the deleted region. Within a cohort of 5,308 cases with various MN, 215 patients with 20q- were identified. WES results were available for 350 patients. We applied a stringent bioanalytic algorithm to identify unique GL alterations (not deposited in SM databases) in genes expressed in hematopoietic tissues and involved in BMF and cancer, and a population allelic frequency of <1% which were classified as pathogenic (P), likely pathogenic (LP), and VUS with particular level of clinical suspicion (sVUS). In 76 of 215 patients with 20q-, 346 GL mutations in genes of potential interest were identified and further analyzed. No P/LP variants were detected on genes within commonly deleted region on chr.20q, and no additional carriers of SBDS variants were found. However, we identified 9 pathogenic GL variants in potentially pertinent genes including GL alterations in DDX41, STAG2 and TP53 which have been described in the context of MN. However, these gene variants were also present in patients with diploid 20q. The remaining 6 variants included heterozygous P/LP GL alterations in 3 different Fanconi anemia genes ( FANCA, FANCM, FANCD2), SUZ12, and TINF2. The latter, TINF2, a telosome gene, known to be mutated in dyskeratosis congenita (DC), carried an LOF c.605-1G>A in a patient with MDS/MPN with a family history of cancer who later developed 20q-. The patient did not show any symptoms of DC-like features, which usually present at an early age. Since FANCA LOF with SGR via overepression of EIF6 has previously been described 1, we investigated and did not identify any cases in our cohort of EIF6 SGR resultant overexpression. While occasional patients with no previously diagnosed SBDS can be found among MDS with 20q-, screening for SBDS genes demonstrates that such a genetic configuration among adult patients with 20q is very rare. In addition, only 9 out of 215 patients with 20q- carried other pathogenic GL variants in non-recurrent genes which appear to be likely coincidental. This suggests that del20q is not a SGR in response to a GL mutation, but rather a SGR due to other aforementioned mechanisms, which are currently being explored in our cohort of patients.

Post-Transplant Pain and Paralysis: Neurologic Amyotrophy As an Atypical Cause of Shoulder Dysfunction Following Hematopoietic Stem Cell Transplant

Introduction: Neuralgic amyotrophy (NA), also known as Parsonage-Turner Syndrome, brachial neuritis, or idiopathic brachial plexopathy, is a rare inflammatory peripheral nervous system disorder affecting the brachial plexus, typically presenting as sudden and abrupt unilateral shoulder pain followed by progressive painless weakness and occasionally reflex and sensory abnormalities. Diagnosis is clinical - based on history and detailed neuromuscular physical examination. Electrodiagnostic studies (EDX) and advanced imaging are supportive to confirm diagnosis and exclude alternative etiologies. While the pathogenesis is not entirely understood, the idiopathic form is thought to be secondary to immune or vascular mediated effects with only a few case reports after hematopoietic stem cell transplantation (HCT). Given under recognition and misdiagnosis, a high degree of suspicion is necessary in patients developing acute onset of shoulder pain after HCT. While no curative treatment is available, early diagnosis will result in appropriate management, patient education, pain control, and timely focused rehabilitation. Methods: We retrospectively collected demographics, HCT details, clinical characteristics, imaging studies, and EDX on patients with acute shoulder pain post-HCT at a single institution. Descriptive statistics were utilized to summarize the collected data. Results: Between 8/2020 -7/2022, nine patients (44% male, median age 60 years) were diagnosed with NA following autologous (n=4, for multiple myeloma (n=2), non-Hodgkin lymphoma (n=1), or germ cell tumor (n=1)) or allogeneic HCT (n=5, for myelodysplastic syndrome (n=3) and acute myelogenous leukemia (n=2)). Each patient acutely developed severe shoulder pain at a median of 9 days (range 1-21) mean. Shoulder pain was bilateral in 3 patients. Neurological weakness involving the shoulder (s) was observed on average 5.1 days after pain onset (range 1-15 days). All but one patient developed sensory deficits in the affected upper extremity. Shoulder pain subsided after a median of 23 days (range 8-40 days). MRI of the shoulder and/or brachial plexus was performed in all patients and showed periscapular muscle edema, atrophy and enhancement in six patients. These signal abnormalities were observed in varying distributions including supraspinatus, infraspinatus, deltoid, teres minor, serratus anterior and intercostals (Figure 1). Of the 6 patients who had EDX, findings were consistent with NA in 5 patients (axillary neuropathy in 2 patients, upper trunk plexopathy in 1 patient, bilateral posterior cord plexopathy in 1 patient and diffuse bilateral brachial plexopathy in 1 patient). All patients were treated with pain medications and received optimal rehabilitative care including consult with physical medicine and rehabilitation physicians and physical and occupational therapy. Upon long term follow up (>1 year), three patients experienced full or near-full resolution of symptoms, four patients partially recovered, and two patients had little to no improvement of their neurological symptoms. Conclusion: Patients undergoing HCT are susceptible to neurological insults, potentially driven by immune-mediated mechanisms. In individuals experiencing acute shoulder pain accompanied by neurological symptoms early post-HCT, it is important to maintain a high level of suspicion for the diagnosis of NA. A timely diagnosis is essential to facilitate early intervention and ensure optimal functional recovery. MRI of the shoulder and/or brachial plexus and EDX are valuable diagnostic tools for assessing the presence and distribution of neuromuscular involvement. While recovery is possible, comprehensive long-term follow-up is necessary to ascertain the extent of symptom resolution and functional restoration.

Pneumomediastinum complicating acute asthma.

A 19 year old female with a history of asthma presented with an acute life-threatening asthma exacerbation. Atypical features, particularly a persistent oxygen requirement promted further investigation with a subsequent CT Thorax confirming pneumomediastinum. Her case was managed conservatively as per our treatment proctocol for asthma. Pneumomediastinum can present during an acute asthma exacerbation. Although it is benign and spontaneous recovery is to be expected, due to the risk of respiratory comprimise and profound hypoxia a high level of clinical suspicion and close monitoring is advised.

Hold your Horses! An Uncommon Cause of Bacteremia in HCT Recipients

Abstract Background Diagnosis and management of bloodstream infections due to uncommon microorganisms in immunocompromised hosts (ICH) are challenging. Removing central venous catheters (CVC) and combination antimicrobial therapy may be necessary. Case A 2-year-old female with Mucopolysaccharidosis type I on day +125 after matched unrelated donor allogenic transplant presented with 2 days of decreased activity. Two days prior, she had completed 4 weeks of ciprofloxacin and clarithromycin for treatment of Mycobacterium cosmeticum catheter-related bacteremia (CRBSI). The CVC was removed. The patient lived in a rural area but had no direct animal exposure, except for an indoor vaccinated dog. Household contacts were healthy and immunized. The patient was febrile and tachycardic with no evidence of infection around CVL or G-tube. Laboratory results showed pancytopenia and elevated C-reactive protein Blood cultures grew diphtheroid gram-positive bacilli (GPB) and gram-positive cocci (GPC) in clusters, the later identified as S. epidermidis. The GPB could not be identified from the liquid media and was sent to an outside lab. The report was corrected to GPC after growing on solid medium culture. The patient was started on meropenem and vancomycin and the CVC was removed. The GPB was identified as Rhodococcus equi. A chest CT showed new ground glass nodules in the left lower lobe. The patient defervesced and was discharged on a 10-day course of oral linezolid for S. epidermidis, clarithromycin and levofloxacin. She completed one month of clarithromycin and levofloxacin. Chest CT at end of treatment confirmed resolution. Discussion and conclusions Rhodococcus equi is a pleomorphic gram-positive bacteria that presents as cocci in solid media and as a diphtheroid gram-positive rod in liquid media. Horses are the primary hosts, but most herbivores are fecal carriers. Transmission occurs through inhalation of dust from contaminated soil. R.equi frequently presents as pulmonary infection with cavitated nodules. Over half of ICH develop secondary bacteremia. Extrapulmonary infection secondary to dissemination of pulmonary disease can occur but isolated extrapulmonary disease is rare. R.equi can be easily dismissed as a contaminant requiring a high level of suspicion and communication with lab personnel. When isolated from an extrapulmonary location, chest imagining is essential to guide treatment. Treatment should combine two antibiotics, at least one of them with intracellular activity, with fluoroquinolones and macrolides among the preferred options. For device-related infections, removal is recommended. Treatment duration for uncomplicated infections is 10 to 14 days, but cavitary lesions require longer treatment based on the resolution of lesions

Androgenetic Alopecia in Children and Adolescents: From Trichoscopy to Therapy

Introduction: Pediatric androgenetic alopecia is a product of hormonal and genetic factors. The diagnosis depends on recognizing the hair loss pattern in the context of a positive family history and a typical trichoscopy. Methods: A multicenter retrospective study assessing medical data from January 2008 to January 2023 of two reference centers – one public and one private in west Mexico. Patients under 18 years old were included. The clinical features, trichoscopic findings, associated conditions, and treatment received were documented and analyzed. Results: We found 145 patients, with a mean age of 16.08 ± 1.30 years, predominantly comprising males (72%). Trichoscopy was performed on 33 patients. The main trichoscopic findings were hair shaft thickness variability in 100% of the cases, vellus hair in 85%, and single-hair units in 79%. Vitamin D deficiency was found in 84% of the cases with laboratory determination, insulin resistance in 33%, and hyperandrogenemia in 12.5%. Topical minoxidil emerged as the main treatment modality in 24% of cases, demonstrating both efficacy and tolerability. Conclusion: Pediatric androgenetic alopecia could be more prevalent than commonly perceived, potentially explained by the lower level of suspicion among medical practitioners. Distinctive trichoscopic findings offer valuable guidance for therapeutic strategies and ongoing management.

Amyands hernia in pediatric case: Manageable but challenging to diagnose preoperatively

Vermiform appendix within inguinal hernial sac is known as amyands hernia which is rare entity. Incidence varies from 0.5% to 1%. Vermiform appendix may or may not present as appendicitis however the trapped appendix may incarcerate and may present with perforation and strangulated.Here we report a case of 2 year old baby presented as right sided inguinoscrotal, reducible, painless swelling since birth. He was diagnosed as inguinal hernia. During herniotomy appendix was found as its content.This case report aims to document another case of amyands hernia impersonating as inguinal hernia as patients often are asymptomatic with low level of suspicion even on routine ultrasonography hence surgeon may encounter unexpected intraoperative findings.

Evaluation and Management of Endometriosis in the Adolescent.

Endometriosis is a chronic condition, with debilitating symptoms affecting all ages. Dysmenorrhea and pelvic pain often begin in adolescence, affecting school, daily activities, and relationships. Despite the profound burden of endometriosis, many adolescents experience suboptimal management and significant delay in diagnosis. The symptomatology and laparoscopic findings of endometriosis in adolescents are often different than in adults, and the medical and surgical treatments for adolescents may differ from those for adults as well. This Narrative Review summarizes the diagnosis, evaluation, and management of endometriosis in adolescents. Given the unique challenges and complexities associated with diagnosing endometriosis in this age group, it is crucial to maintain a heightened level of suspicion and to remain vigilant for signs and symptoms. By maintaining this lower threshold for consideration, we can ensure timely and accurate diagnosis, enabling early intervention and improved management in our adolescent patients.

Abstract 16397: Inflammatory Biomarkers as Predictors of Systemic vs. Isolated Pocket Infection in Patients Undergoing Transvenous Lead Extraction

Intro: Cardiovascular implantable electronic device (CIED) infections are a common indication for device extraction. Early diagnosis and complete device and lead removal are crucial to reduce morbidity and mortality. The lack of clear infectious symptoms and signs make the diagnosis of CIED infections challenging and may delay referral for extraction. Methods: We performed a retrospective analysis of patients undergoing transvenous lead extraction for CIED infection at UCSD from 2012 to 2022 (n= 164). Our control group underwent extraction for non-infectious etiologies such as device malfunction, lead fracture or system upgrade (n=281). Patients were classified as systemic infection (n=88) or isolated pocket infection (n=68) based on the presence or absence of sepsis. Prospectively collected pre-operative procalcitonin (PCT), C-reactive protein (CRP), and white blood cell count (WBC) were compared between groups using Kruskal-Wallis and Dunn-Bonferroni tests. Results: PCT and WBC medians differed significantly between the systemic infection, the pocket infection, and the control groups (p<0.001 and p=0.021 respectively). Pairwise comparisons revealed the systemic infection group had a higher PCT than the control group (p<0.001), as well as the pocket infection group (p=0.009). There was no significant difference in PCT between the control group and the isolated pocket infection group (p=0.685). Regarding pairwise differences in WBCs, a higher value was only associated with systemic infection when compared with our control group (p=0.018). CRP levels were not significantly different between groups (p=0.117) and the difference was again limited to systemic infection vs control groups (p=0.017). Conclusion: In patients with CIED infections requiring extraction, systemic infection was associated with elevated pre-operative PCT when compared to isolated pocket infection and controls. Elevated WBCs and CRP levels were also associated with systemic infection. However, inflammatory biomarkers including PCT were not elevated in isolated pocket infections. The results suggest that inflammatory markers are not predictive to help with the diagnosis of pocket infections, which ultimately requires a high level of clinical suspicion.

Abstract 18602: A Rare Case of Ehrlichiosis Induced Myocarditis

Description of Case: A 64-year-old female presented with progressively worsening shortness of breath, headaches, weakness, intermittent confusion, and persistent fevers. Laboratory work-up revealed leukopenia, thrombocytopenia, elevated transaminases, negative viral panel, and elevated CRP. Chest CT revealed ground glass opacities and bilateral interlobular thickening. TTE obtained was normal. She was started on empiric meningitis treatment. She was transferred to the ICU after becoming more hypoxic and hypotensive. Further history revealed recent tick exposure while visiting the eastern North Carolina woods. Doxycycline was started for suspected tick-borne disease on day 2 of her ICU stay. LP was non-revealing. Her course was complicated by development of inferolateral ST segment elevation on EKG. Initial troponin I level was 155.66 ng/mL peaking at 209.24 ng/mL (reference range <= 0.03 ng/mL). Cardiac catheterization revealed no epicardial coronary disease. Repeat TTE showed a decreased LVEF at 25-30% and global hypokinesis. Cardiac MRI revealed evidence of an inflammatory myocardial process, myocardial edema and epicardial fibrosis. The patient had a positive Erhlichia chaffensis IgG antibody titer and Ehrlichia chaffensis DNA polymerase chain reaction was positive. She demonstrated improvement with continuation of doxycycline. Heart failure guideline directed medical therapy was initiated prior to her discharge. Discussion: Ehrlichia infections occur primarily in areas of south and central United States. Transient flu-like symptoms are the most typical manifestations, but more severe complications can occur such as meningoencephalitis, respiratory failure, coagulopathy, myocarditis and death. There are only a few documented cases of myocarditis due to Ehrlichia infections. If not recognized early, myocarditis can be a serious and fatal complication of ehrlichiosis, even in immunocompetent patients. A high level of suspicion for this should be kept in the differential for patients with cardiac manifestations presenting from endemic areas, especially during warmer seasons. Doxycycline therapy should be started promptly for clinical suspicion of Ehrlichia infection.

Abstract 14148: Left Ventricular Outflow Tract Pseudoaneurysm in a Pediatric Patient: An Unusual Presentation of Endocarditis

Description of Case: A 12-year-old male with known bicuspid aortic valve presented with one month of progressive weight loss and subjective fevers. Transthoracic echocardiogram was concerning for a new left ventricular outflow tract (LVOT) aneurysm (figure 1). His aortic valve stenosis and regurgitation had notably progressed compared to a prior study one year ago. He was urgently referred for cardiac computed tomographic angiography (CCTA), which demonstrated a pseudoaneurysm of the LVOT inferior to the aortic valve and irregularly thickened aortic valve leaflets with a notable perforation (figure 2). Blood cultures were positive for Viridans streptococci, confirming the diagnosis of infective endocarditis. The patient was referred for a Bentall procedure with LVOT pseudoaneurysm repair. Pre-operative transesophageal echocardiogram demonstrated a communication of the non-coronary cusp of the aortic valve and LVOT. Ultimately, aortic root replacement was performed with a 23mm homograft. Our patient recovered well from surgery and now has excellent clinical status with normal aortic valve function. Discussion: Pseudoaneurysm of the LVOT as a result of infective endocarditis is a rare diagnosis, especially in the pediatric population. Of the case reports published, it is most seen in the setting of infection involving the native aortic valve but has also been reported after aortic valve replacement. As in our patient, the most commonly reported location involves the mitral-aortic intervalvular fossa. Symptoms have insidious onset and the diagnosis requires a high level of suspicion. A multimodal imaging approach is warranted for optimal diagnosis and treatment.

Diagnostic challenges in tuberculous meningitis: a case report with negative genexpert result.

Tuberculous meningitis (TBM) is a severe form of tuberculosis affecting the meninges, primarily caused by Mycobacterium tuberculosis. Diagnosis of TBM poses numerous challenges due to its nonspecific clinical presentation and the limitations of diagnostic tests like GeneXpert. The authors report a case of a 22-year-old female from Eastern Nepal presenting with acute-onset fever, headache, vomiting, and neck pain. Cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis, elevated protein, low glucose levels, and cobweb coagulum indicative of TBM. However, the GeneXpert test revealed negative results. In resource-limited settings like Nepal, where access to GeneXpert MTB/Rif is limited, CSF analysis and clinical algorithms play a crucial role in diagnosing TBM. Relying solely on GeneXpert results may lead to false negatives, so a high level of suspicion based on patient risk factors is essential. Prompt initiation of empirical antitubercular therapy is vital for a favorable outcome in TBM cases. Negative MTB PCR results from CSF can be misleading in diagnosis of tubercular meningitis. Therefore, comprehensive evaluations, including detailed patient history, physical examination, and CSF fluid analysis, are crucial in high tuberculous prevalence countries to ensure accurate and timely diagnosis.

Abstract 108: Artery Of Percheron Infarctions (AOP): A Tale of Two Outcomes

Introduction The AOP is a rare anatomic variant in which a solitary arterial trunk arises from the proximal segment of the posterior cerebral artery (PCA) and supplies the bilateral paramedian thalami and rostral midbrain. Occlusion may result in variable bilateral thalamic and midbrain infarcts. The clinical presentation is most commonly lethargy and somnolence thought to lack other localizing features. Often the diagnosis and treatment of stroke is delayed. Methods Here we present two cases of likely AOP infarcts which highlight the importance of considering this diagnosis on the differential of acute lethargy as timely treatment can lead to a significant difference in morbidity and mortality. Results Case 1: A 68‐year‐old male was initially admitted to an outside hospital with acute lethargy. He was transferred to our institution where he was found to be somnolent and required repeated stimulation to participate with interview. On further exam he was noted to have left ptosis, anisocoria, restricted left supra‐ and add‐ duction, and dysarthria. CT angiogram (CTA) showed no large vessel occlusion (LVO) or significant stenosis. Magnetic resonance imaging (MRI) demonstrated acute infarcts in the medial thalami and subthalamic nuclei bilaterally and uppermost portion of the midbrain. He was out of the window for IV thrombolytic. He was ultimately discharged to inpatient rehab with a persistent CN III palsy. Case 2: A 71‐year‐old female was evaluated emergently via telestroke for acute lethargy and was found to additionally have vertical diplopia, right facial palsy, and subsequent bilateral numbness of the face, arms, and legs. NIHSS 10 for LOC questions (1), facial palsy (2), motor drift (1 pt for each limb), sensory loss (1), aphasia (1), and dysarthria (1). She was treated with IV tenecteplase 179 minutes after the last known well and ultimately had complete symptom resolution. CTA was negative for LVO or significant stenosis. MRI brain demonstrated acute infarcts in the medial thalami bilaterally. Conclusion Here we present two cases of acute onset lethargy. MRI Brain revealed relatively symmetric restricted diffusion in the bilateral thalami of both patients suggesting the presence of an AOP variant. In contrast to the first case, signs of a posterior circulation infarct were quickly recognized in the second patient and IV thrombolytic administration resulted in return to baseline. In both cases there were subtle neurologic findings that suggested midbrain involvement – ptosis, restricted ductions, anisocoria. A high level of suspicion for bilateral thalamic infarct and potential AOP variant should be maintained in cases of acute lethargy. Careful neurologic exam often reveals other signs suggestive of posterior circulation infarct and timely therapeutics can significantly improve morbidity and mortality.

Terrible Triad of the Shoulder: A Case Series and Literature Review.

The shoulder terrible triad is an underdiagnosed injury pattern consisting of anterior shoulder dislocation, rotator cuff tear, and nerve injury from the brachial plexus in its original description. The purpose of this study is to raise awareness of the condition, suggest treatment strategies, and emphasize the difficulties in treating this condition. This case series of seven patients from the same institution. All patients underwent x-rays before and after the reduction of the dislocation, MRI to assess the musculoskeletal injuries, and EMG and clinical examination to assess the nerve lesions. Early arthroscopic repair was opted for the rotator cuff tears. A conservative approach was chosen for the nerve lesions. Active forward flexion and external rotation, Constant score, and Visual to Analogue Scale (VAS) were recorded pre- and post-operatively. All the patients showed an improvement in function postoperatively. However, four of the seven patients did not recover fully. The mean Constant and VAS scores were improved from 15.2 +/- 2.8 (12 to 19) to 67 +/- 16.6 (44 to 86) and from 7.5 +/-1 (6 to 9) to 2.3 +/- 0.8 (1 to 3), respectively. The patients were followed up for a mean time of 28.2 +/- 10.1 months (18 to 43 months). Time-to-surgery shorter than four weeks showed better results, but not statistically significant. The diagnosis of the shoulder terrible triad requires a high level of suspicion. Early arthroscopic repair for the rotator cuff tears and waiting for the nerve recovery is suggested. Delayed time from injury to surgery might be related to worse outcomes, but higher-level research is needed in this direction.

Pre-perimetric Optic Neuropathy

We present a case of a 32-year-old male who came with the history of blurring of vision in both eyes. Diagnosed as a glaucoma suspect at another centre, he had a best corrected visual acuity (BCVA) of 20/20 in both eyes and there was no relative afferent pupillary defect (RAPD) in either eye. Intraocular pressure (IOP) was also normal in both eyes. Fundus examination revealed very subtle temporal pallor accompanied by reduced retinal nerve fibre layer (RNFL) striations in the papillomacular bundle (PMB) in both eyes. RNFL optical coherence tomography (OCT) demonstrated thinning of the RNFL in the temporal sector along with thinning of the ganglion cell complex (GCC) on the ganglion cell analysis, whilst his visual fields (24-2) were normal in both eyes. After all necessary laboratory investigations a diagnosis of vitamin B12 and folate deficiency with nutritional optic neuropathy was made and appropriate management was initiated. Hence, diligent clinical evaluation along with a high level of suspicion goes a long way in diagnosing these almost sub clinical cases with pre-perimetric optic neuropathy. Timely diagnosis and appropriate management can help to preserve vision and reverse changes in an otherwise preventable irreversible optic neuropathy.

Second Hematologic Malignancies Associated With Primary Mediastinal Germ Cell Tumors: A Population-based Study.

Studies addressing second hematologic malignancies (SHMs) in patients with primary mediastinal germ cell tumors (PMGCTs) are scarce. To better describe this phenomenon, we analyzed a large case series from a population-based registry. The Surveillance, Epidemiology, and End Results database was used to report the clinical characteristics and incidence of SHMs in patients with PMGCT. Among 1297 PMGCTs, 27 cases (2.08%) of SHM were found, with a median latency period of 12 months (95% CI: 5-41). All SHM occurred in males, 20 of whom (74.1%) had a previous nonseminomatous tumor. Acute myeloid leukemia was the most frequent SHM, accounting for 13 cases, 4 of which were acute megakaryoblastic leukemia that occurred within 5 months of diagnosis. The median survival after the diagnosis of SHM was 6 months (95% CI: 2-41). The risk of SHM was significantly higher than expected for the reference population, with a standardized incidence ratio of 6.21 (95% CI: 3.31-10.62) and an absolute excess risk of 19.19 per 10,000 person-years. Patients with PMGCT are at a higher risk of developing SHMs than the general population, particularly acute myeloid leukemia. This risk ranges from synchronous diagnosis of acute megakaryoblastic leukemia to the later onset of other hematological disorders that might be related to PMGCT therapies. Our findings may help create follow-up schedules for patients with PMGCT and raise the level of suspicion surrounding this association.