Elusive Diagnosis Research Articles

Chronic Nasal Disease and Eustachian Tube Function: What Is the Role of Tubomanometry?

Background/objectives: Eustachian tube dysfunction (ETD) presents complex diagnostic challenges in otolaryngology, compounded by concurrent chronic nasal disease. Patient-reported outcome measures (PROMs) often assess ETD severity due to its elusive diagnosis. Tubomanometry (TMM) emerges as a promising diagnostic tool, yet its application alongside chronic nasal disease remains unclear. Our study aims to elucidate TMM’s role in ETD diagnosis within the context of chronic nasal diseases, integrating subjective assessments, clinical examination, and TMM results. Methods: A prospective observational study was conducted with patients suffering from ETD and chronic nasal disease allocated in three different groups according to their nasal pathology. Clinical examination, PROMs in the form of ETDQ-7, and NOSE questionnaires as well as TMM were performed. Results of the above subjective and objective measurements were analysed and correlated statistically to determine the value of TMM in chronic nasal disease patients. Results: All recruited patients suffered from ETD and chronic nasal disease, with similarly affected ETDQ-7 scores across all groups, while NOSE scores differed significantly based on the underground nasal pathology. TMM values confirm the presence of ETD in all three groups, confirming the role of TMM within this cohort. Interestingly, TMM values can still confirm the presence of ETD in patients with chronic nasal disease but cannot discriminate among chronic nasal pathology patients, making TMM a diagnostic tool with uniformity among the chronic nasal pathologies. Conclusions: ETD in individuals with chronic nasal disease presents distinct complexities, requiring a tailored diagnostic approach. In this context, a thorough clinical assessment, integrating ETDQ-7 and NOSE questionnaires, supplemented by TMM where accessible, is crucial to confirm diagnosis. This study confirms that TMM can diagnose ETD in all nasal pathology patients without being influenced by the nature of the disease. This research endeavours to refine diagnostic strategies, enriching clinical decision-making, and enhancing ETD management in patients suffering with chronic nasal diseases.

The Enigma of Idiopathic Multicentric Castleman Disease: An Elusive Diagnosis

The Enigma of Idiopathic Multicentric Castleman Disease: An Elusive Diagnosis

The role of MRI in the diagnosis of aseptic loosening following total hip arthroplasty.

The role of advanced imaging in diagnosing aseptic implant loosening following total hip arthroplasty (THA) remains unclear. This study aimed to assess the diagnostic value of magnetic resonance imaging (MRI) in detecting aseptic loosening. This was a retrospective review of 342 consecutive patients who underwent revision THA between July 2011 and April 2023 and had a pelvis MRI as part of the preoperative diagnostic evaluation. Among them, 62 patients had an intraoperative diagnosis of aseptic loosening of either the femoral or acetabular component. Patients were stratified based on the concordance between their MRI and radiographs findings. Preoperative MRI showed signs of aseptic loosening in 25/62 patients (sensitivity = 40.3%). Similarly, preoperative radiographs demonstrated signs of aseptic loosening in 27 patients (43.5%). Twelve patients (19.4%) had both MRI and radiographs predictive of aseptic loosening, 22 patients (35.5%) did not show signs of aseptic loosening in either MRI or radiographs, and for 28 patients (45.2%), the results were discordant. Among the patients with a negative radiograph for aseptic loosening (n = 35), 13 patients (37.1%) showed signs of aseptic loosening on MRI. Aseptic loosening remains an elusive diagnosis, and the findings of this study suggest that the utility of MRI and radiographs as part of the diagnostic process is limited. However, in cases of presumed aseptic loosening with inconclusive radiographs findings, MRI may play a role in improving the diagnostic process. III.

Erdheim–Chester disease: An elusive diagnosis in a 50‐year‐old Ethiopian man presenting with diffuse sclerotic bone lesion

Key Clinical MessageDiagnosis of Erdheim–Chester disease (ECD) requires the clinician to be familiar with its various manifestations, classic radiologic and histologic features. This case highlights the significance of considering ECD in any patient presenting with bone pain and symmetric osteosclerosis of long bones of extremities to allow for early diagnosis and treatment.AbstractErdheim–Chester disease (ECD) is a rare non‐Langerhans histiocytic disorder with diverse clinical manifestations, ranging from indolent, localized presentation to life‐threatening, multi‐systemic disease. Delayed or erroneous diagnosis is common. The presence of classic radiographic finding along with foamy histiocytes that is positive for CD68 but negative for CD1a on histologic examination establishes the diagnosis. We report a second case of ECD from Ethiopia. A 50‐year‐old Ethiopian man presented with a 13‐year history of bilateral lower leg bone pain, cold intolerance, somnolence, constipation, impotence, decreased libido, and secondary infertility. The diagnosis was suspected when skeletal X‐ray revealed bilateral symmetric sclerosis of metadiaphysis of femur, tibia, and humerus. The demonstration of foamy histiocytes that were positive for CD68 but negative for CD1a on histologic examination with immunohistochemical staining confirmed the diagnosis. Evaluation for the extent of the disease revealed coated aorta sign, hairy kidney sign, and cystic lesion with ground glass opacity of lung, primary hypothyroidism, and hypergonadotropic hypogonadism. ECD is rare histiocytic neoplasm with wide range of clinical features which often delay the diagnosis. Clinician should be mindful of the various presentations and the classic radiographic and histologic features of ECD. This case highlights the significance of entertaining ECD in any patient presenting with lower leg bone pain and symmetric osteosclerosis of long bones of lower extremities to allow for early diagnosis and treatment.

Episodic Hyponatremia in Acute Intermittent Porphyria: A Case Report

Background: Acute intermittent porphyria (AIP) is an uncommon, ubiquitously distributed autosomal dominant disorder with low penetrance characterized by decreased enzyme activity of hydroxymethylbilane synthase (HMBS) an enzyme of heme synthesis pathway. It is often an elusive diagnosis due to rarity and non-specific signs and symptoms. Case report: A 28 years old female from Nawalparasi (district in central Nepal) presented with history of recurrent episodes of abdominal pain and vomiting. Her current episode began two weeks before presentation to our center. Abdominal pain was diffuse, colicky in nature without exacerbating or relieving factor. There was no postural or diurnal variation. On examination, there was no tenderness and abdominal examination findings were unremarkable. Her biochemical investigations were unremarkable except for severe hyponatremia (S. Na of 100mmol/L) which was SIADH/SIADH like presentation (Table 1 and Table 2). Severe episodic hyponatremia, port-wine color of urine, gastrointestinal symptoms and previous hospital stay two years back with similar episode of hyponatremia and abdominal pain were valuable clues for suspicion of acute porphyria. On further evaluation, patient was found to have presence of porphyrogenic precursors in urine and diagnosis of acute intermittent porphyria was confirmed. After diagnosis, she was managed conservatively with carbohydrate loading with intravenous dextrose, opioids and pregabalin as analgesics. Her symptoms gradually improved, hyponatremia subsided and was discharged in normal condition. Conclusion: Acute intermittent porphyria has signs and symptoms common to several clinical, neurological, psychiatric and gastroenterological pathologies, which complicate diagnosis. In young patients with hyponatremia (with SIADH –like picture), AIP should be considered in differential diagnosis.

Heart failure following cavopulmonary shunt – An unusual story of desmin cardiomyopathy

ABSTRACT Partial cavopulmonary shunt is an established procedure for patients with abnormal right ventricular (RV) physiology. Late failure of the Glenn shunt is usually due to further progression of the primary disease process. However, there may be surprises, as in our patient. We report an 8-year-old child who was diagnosed with tricuspid valve (TV) dysplasia with borderline RV hypoplasia. He underwent TV repair with a right cavopulmonary shunt. He presented with features of heart failure after 6 years of the surgery. An echocardiographic evaluation suggested a restrictive filling pattern of the RV with preserved size and function. Computed tomography and cardiac magnetic resonance imaging revealed a normal pericardial thickness with no evidence of myocardial involvement. Despite the contradicting clinical and imaging features, endomyocardial biopsy confirmed a diagnosis of desmin cardiomyopathy. Restrictive cardiomyopathy may remain an elusive diagnosis despite extensive imaging. In our case, the altered loading conditions due to a cavopulmonary shunt further masked pathophysiological hemodynamic changes.

Hematuria Due to Possible Histoplasma-Associated Urinary Bladder Pseudotumor With Negative Serologic and Urine Antigen Testing

Abstract Histoplasma capsulatum is a ubiquitous dimorphic fungus causing multiple infectious syndromes, ranging from subclinical to severe disseminated disease. We present an unusual case of hematuria due to pedunculated urinary bladder mass in an immunocompetent host. Although the gold standard for diagnosis of histoplasmosis is through demonstration of characteristic yeast forms on histopathologic examination of infected tissue, or observation of typical mycelial growth in culture of clinical specimens, investigational multiplex polymerase chain reaction of formalinized tissue was helpful in this case due to conflicting serologic testing, equivocal morphologic findings on histopathologic examination and, surprisingly, a negative urine Histoplasma antigen despite anatomically proximal location within the urinary bladder. Although antigen immunoassay and serology are commonly used proxy diagnostics in Histoplasma-associated disease, varying performance characteristics in certain disease states, such as cases of locally proliferative infection mimicking neoplastic growth similar to this report, may lead to elusive diagnosis.

Case report; A rare evolving disorder of multiple lesions with an elusive diagnosis

Case report; A rare evolving disorder of multiple lesions with an elusive diagnosis

Incidental Paraparesis during Late Pregnancy: “A Rare Occurrence”

Abstract Tuberculosis (TB) is a major global epidemic and a leading cause of infectious disease death. Pregnancy has always been medically challenging in the wake of extrapulmonary TB, which creates another dimension of diagnostic and management pandemonium. We present our index case, which is an antenatal case presented late in the pregnancy associated with nonspecific back pain, which progressed to paraparesis, diagnosed with limited diagnostic modalities during pregnancy as Pott’s spine and underwent extensive multidisciplinary management at a tertiary care center with a favorable outcome. Here, we aim to discuss and extrapolate the approach to a discrete form of Pott’s spine with a varied presentation in pregnancy, its elusive quandary diagnosis and long-term patient management for a successful fetomaternal outcome.

Cannabinoid Hyperemesis Syndrome: Literature Review

CHS is characterized by cyclic episodes of severe nausea, vomiting, and abdominal pain in individuals with a history of chronic cannabis use. Despite being paradoxical to the widely known antiemetic properties of cannabis, CHS continues to challenge healthcare professionals due to its often elusive diagnosis and mismanagement. The pathophysiology of CHS remains incompletely understood, but current research suggests that prolonged exposure to cannabinoids may disrupt the endocannabinoid system, resulting in dysregulated thermoregulation, gastrointestinal motility, and emesis. Additionally, genetic factors and individual variations in cannabis use patterns may contribute to the development of CHS. Diagnosis of CHS remains challenging, primarily based on clinical criteria, including a history of regular cannabis use, characteristic cyclic vomiting episodes, and symptom relief with hot showers or baths. Differential diagnosis must exclude other causes of cyclic vomiting, making CHS a diagnosis of exclusion. Management of CHS centers around discontinuing cannabis use, which typically leads to symptom resolution over time. Supportive care, including hydration and antiemetic medications, may be necessary during acute episodes. Capsaicin cream, a topical analgesic, has shown promise in alleviating symptoms in some cases. Behavioral therapy and substance abuse counseling may be essential to prevent relapse.

“IT CAN BE A CHAMELEON”: LEWY BODY DEMENTIA PRESENTATION WITH AN ELUSIVE CLINICAL PROFILE—CASE REPORT AND DISCUSSION

Abstract Lewy body dementia is a progressive neurodegenerative disease and is considered to be the second most common cause of dementia in the population above 65 years of age. It remains a challenging and complicated disease process to profile clinically with an elusive diagnosis that shares similarities with Alzheimer’s, leading to patients being misdiagnosed. The decline is compounded by inappropriate coordinated care efforts, and therefore ill preparing the patient and negatively affecting their relatives and support groups. We describe the case of an 83-year-old Hispanic male who over the course of 32 months sustained multiple injuries due to falls landing him in the emergency department; receiving numerous consultations from hospitalists, surgeons, infectious disease specialists, neurologists, psychiatrists, and radiologists. A combined blend of inpatient and outpatient visits was not enough to circumvent the recurrent theme that plagues similar cases worldwide with non-reliable criteria that can identify Lewy Body Dementia early in the presentation of the disease. The first mention of DLB was almost at the 32 months mark into the patient’s journey at this particular Hospital System. A multidisciplinary approach with enhanced communications and round table discussions should be a quality of care improvement initiative to help better serve this population of patients. DLB’s rapid progression and sensitive drug therapy parameters should place this as equally scalable as other multi-specialty collaborations such as tumor board, limb salvage committee, ethics, and Trauma review.

Pancreaticopleural Fistula: Navigating the Enigma of an Elusive Diagnosis

BACKGROUND: Pancreaticopleural Fistula is a Rare Complication of Acute and Chronic Pancreatitis. This Usually Presents With Chest Symptoms Due to Pleural Effusion, Pleural Pseudocyst, or Mediastinal Pseudocyst. Diagnosis Requires a High Index of Clinical Suspicion in Patients Who Develop Alcohol-induced Pancreatitis and Present With Pleural Effusion Which is Recurrent or Persistent. Analysis of Pleural Fluid for Raised Amylase Will Confirm the Diagnosis and Investigations Like Ct. The Rarity of Pancreaticopleural Fistulas, Especially Without the Context of Chronic Pancreatitis, Makes This Case Noteworthy. The Presence of Pleural Effusion in the Absence of Lung Disease Prompted Thorough Investigation, Leading to the Identification of an Unusual Etiology. THE CASE: A 35-year-old Alcoholic Male Presented to Emergency Room With 4-day History of Breathlessness Which Was Sudden Onset, Gradually Progressing to Grade-3 Dyspnea on NYHA Scale, Associated With Dry Cough. Hospitalization and Chest Radiograph1 Revealed Gross Right Side Pleural Effusion. Emergency thoracentesis and Intercostal Drainage Tube Placement were done and Patient Was Referred to Pulmonology Department. On further Evaluation, Patient Also Complained of Mild Persistent Left Upper Quadrant Abdominal Pain for More Than 6 Months Which Was Relieved on Medication Hence, Ignoring the Complaint. Thoracentesis Procedure Yielded 1.5l Amylase-rich Fluid in the Pleural Space. The Patient Was Then Referred to Surgical Department for Further Evaluation. Usg Abdomen Was Inconclusive. Lab Reports Revealed Mildly Elevated Pancreatic Enzymes. contrast- Enhanced Computed Tomography (Ct) Scan of the Abdomen and Chest Revealed a Dilated Main Pancreatic Duct and Multiple Direct Communication Between the Pancreatic Duct(see Figures 1) and the Right Pleural Space, Leading to the Formation of Massive Pleural Effusion and Complete Collapse of Right Lung. Rest of the Pancreas Appeared Normal With No Evidence of Calcification. After a Thorough Clinical Evaluation, Laboratory Investigations, and Imaging Studies, the Patient Was Diagnosed With a Pancreaticopleural Fistula. The Patient Was Managed Through a Multidisciplinary Approach Involving Gastroenterology, radiology, and General Surgery Teams. Initial Management Included Aggressive Medical Treatment With Bowel Rest, Total Parenteral Nutrition, Antibiotics and Administration of Proton Pump Inhibitors. The Patient Showed Gradual Improvement Post-drainage, With a Significant Decrease in Pleural Effusion Volume and Resolution of Dyspnea. Follow-up With CT scan Was Advised. The patient Was Subsequently Monitored Continuously With Dietary Recommendations. CONCLUSION: the Chosen Case is Significant Due to Its Diagnostic Intricacies and the Necessity for Collaboration Among Various Medical Specialties. The Management of Pancreaticopleural Fistulas Requires a Tailored Approach. This Case Underscores the Importance of Early Diagnosis, Meticulous Evaluation, and Timely Intervention in Achieving Successful Outcomes for Patients. In conclusion,by Sharing This Case, I Aim to Contribute to the Understanding of This Rare Condition and Emphasize the Significance of Timely Diagnosis and Appropriate Management Strategies.

Extranodal Rosai-Dorfman disease presenting as a suspicious breast lump: An infrequent but elusive differential diagnosis. A case report

Rosai-Dorfman disease represents a very rare idiopathic disorder mainly characterized by sinus histiocytosis and massive lymphadenopathy. In even rarer occasions (<43%), extranodal involvement has been reported, with one of the least common presentations being isolated breast affection (<1%). We report the case of a 64-year-old woman who debuted with a suspicious breast lump and underwent a prolonged study protocol before a proper histopathological diagnosis could be obtained. Surgical management was effective, and follow-up shows no signs of recurrence. In the context of ruling out breast malignancy, even rare alternatives should be considered when a diagnosis eludes us.

Beyond conventions, medication-induced organ damage: exploring a case of gangrenous cholecystitis in a healthy young adult male on fluoxetine and amphetamines

Acute cholecystitis occurs in 1 to 2% of patients with gallstones, with 2 to 20% progressing to gangrenous cholecystitis (GC). Within the realm of acute cholecystitis, GC presents itself as a formidable challenge, with a higher mortality rate (15 to 50%) compared to uncomplicated cholecystitis (3%) and elusive preoperative diagnosis. Traditionally observed among the elderly population burdened by comorbidities, GC's emergence in younger patients with no apparent risk factors sets the stage for intriguing exploration. Our case report involves a healthy young adult male on fluoxetine and amphetamines, introducing the potential of medication-induced ischemia leading to the development of GC.

FRI361 Insulinoma Presenting With Complete Heart Block

Abstract Disclosure: R. Campbell: None. S.J. Lawless: None. B. MacNeill: None. E. Brosnan: None. M.J. Bell: None. Background: Insulinomas are a rare functioning pancreatic neoplasm, causing hypoglycaemia, typically during the fasting state (1). The non-specific and varied presentations of this condition make it quite the elusive diagnosis. Clinical Case: A 32 year old female with multiple presentations to the hospital with loss of consciousness and fatigue was subsequently noted to have complete heart block with a 4.4 second pause due to ventricular standstill in the early morning on a holter monitor. She had a background history of temporal lobe epilepsy from the age of 17 and was on regular anti-epileptics. Following discussion with the electrophysiology team, a dual chamber pacemaker (PPM) was inserted. Two months following PPM insertion she was re-admitted with another collapse, however on this occasion a blood glucose level (BGL) was 1.7mmol/L, promoting investigation for a possible insulinoma. A 72hr fast provided biochemical evidence of same with a BGL of 1.6mmol/L within 24hrs, insulin level 72.7pmol/L and c-peptide 621pmol/L. She was commenced on Octreotide and Diazoxide while awaiting further work-up. A CT pancreas was normal, and she subsequently underwent an endoscopic ultrasound, which visualised an isoechoic lesion in the pancreatic mid-body. One year following her initial presentation she underwent enucleation of the pancreatic lesion and pathology confirmed an insulinoma. Her symptoms resolved and her pacemaker was subsequently removed after multidisciplinary discussion and a period of close observation with the device function turned off. Conclusion: To date there are no published case reports of an insulinoma presenting as complete heart block, however the phenomenon has been studied in animal models. Key learning points are the ambiguous nature of this diagnosis and the need to keep an open mind, particularly when other factors muddy the water, which in this case were cardiac arrhythmias and seizure disorder. Reference: (1) Okabayashi T, Shima Y, Sumiyoshi T, Kozuki A, Ito S, Ogawa Y, et al. Diagnosis and management of insulinoma. World journal of gastroenterology: WJG. 2013;19(6):829. Presentation: Friday, June 16, 2023

S1988 An Accordion-Like Bile Duct in IgG4-Related Sclerosing Cholangitis: A Rare Finding in an Elusive Diagnosis!

S1988 An Accordion-Like Bile Duct in IgG4-Related Sclerosing Cholangitis: A Rare Finding in an Elusive Diagnosis!

S3037 Chasing an Elusive Diagnosis of Adult IgA Vasculitis With Gastrointestinal Involvement

S3037 Chasing an Elusive Diagnosis of Adult IgA Vasculitis With Gastrointestinal Involvement

An Elusive Diagnosis: Diffuse Large B-Cell Lymphoma Masquerading as Acute Liver Failure with Persistent Lactic Acidosis.

BACKGROUND Acute liver failure (ALF) associated with malignant lymphoma is a rare condition with non-specific clinical and radiological features. Here, we describe an unusual case of ALF due to DLBCL with an image negative on presentation posing diagnostic difficulty. CASE REPORT A 74-year-old man was admitted to our hospital with abdominal pain. Radiological and laboratory investigations revealed lymphadenopathy with mildly elevated transaminitis and alkaline phosphates levels. A right upper-quadrant ultrasound showed heterogeneous hepatic parenchyma. Eight days later, he had worsening abdominal pain. He was found to have altered mental status and asterixis. His liver function was worsened with ALT 101, AST 328, lactic acid 4.2, total bilirubin 2.5, INR 6.35, and ammonia level 117 µmol/L. He continued to deteriorate with worsening lactic acidosis, coagulopathy, severe anemia, elevated liver enzymes, and thrombocytopenia. Unfortunately, the patient died of multi-organ failure on the 14th day of hospitalization. The autopsy findings revealed DLBCL involving multiple organs, including the liver, lung, bone marrow, and multiple lymph nodes. Despite an extensive diagnostic workup, an underlying diagnosis was unable to be established antemortem. CONCLUSIONS We describe a case of ALF linked to DLBCL discovered at autopsy. The non-specific clinical and radiological features of this condition make diagnosis challenging, and the prognosis is often poor. Further research and awareness are needed to improve the early detection and management of ALF associated with malignant lymphoma. By expanding the literature on this topic, we aim to improve outcomes and optimize patient care in similar clinical scenarios.

The complex interplay between psychosocial and biological factors in pregorexia nervosa - a rapid review.

The importance of detecting eating disorders (EDs) during pregnancy cannot be overemphasized, because of the major negative effects this pathology has on both maternal and fetal health. Based on a rapid review including primary and secondary reports, PN may still be considered an elusive diagnosis entity, that partially overlaps with other EDs, either well-defined, like anorexia nervosa, or still in search of their own diagnosis criteria, like orthorexia nervosa. Neurochemical and hormonal factors, psychological and social mechanisms, along with lifestyle changes create a very complex framework for clinicians interested in defining the typical features of pregorexia nervosa (PN). The personal history of EDs is considered one of the most important risk factors for PN. The core diagnostic criteria for this entity are, so far, lack of gaining weight during pregnancy, an excessive focus on counting calories and/or intense physical exercising with a secondary decrease of interest in the fetus's health, lack of acceptance of the change in body shape during pregnancy, and pathological attention for own body image. Regarding the treatment of PN, nutritional and psychosocial interventions are recommended but no specific therapeutic strategies for this disorder have been detected in the literature. Psychotherapy is considered the main intervention for pregnant women with associated EDs and mood disorders, as the pharmacological agents could have teratogenic effects or insufficient data to support their safety in this population. In conclusion, taking into consideration the methodological limitations of a rapid review, data supporting the existence of PN were found, mainly regarding tentative diagnostic criteria, risk factors, and pathophysiological aspects. These data, corroborated with the importance of preserving optimal mental health in a vulnerable population, e.g., pregnant women, justify the need for further research focused on finding specific diagnostic criteria and targeted therapeutic approaches.

The Elusive Diagnosis of Superior Mesenteric Artery Syndrome Coexisting with Nutcracker Phenomenon

The Elusive Diagnosis of Superior Mesenteric Artery Syndrome Coexisting with Nutcracker Phenomenon