Difficult Diagnosis Research Articles

A Complex Presentation of Vestibular Paroxysmia in an Adolescent With Wolff- Parkinson-White Syndrome

Vestibular paroxysmia is an episodic vestibular disorder resulting from compression or irritation of the eighth cranial nerve. This disorder is a rare and difficult diagnosis in children. We report the case of a 16-year-old adolescent male with a history of syncope and coronavirus disease 2019 infection four months prior who presented with intermittent episodes of vertigo and unsteadiness several times a week. These events started abruptly, and he appeared frozen. However, he remained conscious and was able to answer questions. He subsequently resumed normal activity in less than a minute without seizure stigmata or postictal period. His general and neurological examinations were unremarkable. Extensive diagnostic evaluation yielded negative results, except for an electrocardiogram consistent with Wolff-Parkinson-White syndrome. However, his symptoms persisted after cardiac ablation, suggesting they were not related to this arrhythmia. Following unsuccessful trials with various medications, his symptoms resolved with carbamazepine. Early recognition and appropriate treatment of this condition could substantially improve the quality of life for affected individuals.

Extensive polymorphic eruption and lymphocytosis in a 56‐year‐old male—A difficult diagnosis!

Extensive polymorphic eruption and lymphocytosis in a 56‐year‐old male—A difficult diagnosis!

Aortic Dissection is a Difficult Diagnosis, Despite Widespread CTA Usage

Aortic Dissection is a Difficult Diagnosis, Despite Widespread CTA Usage

Difficult diagnosis: Disseminated gonorrheal infection manifesting as septic arthritis.

Disseminated gonococcal infection is the causative agent of approximately 0.6%-1.2% of septic arthritis cases in North America and Europe. Typical presentations of this disorder include tenosynovitis, dermatitis, polyarthralgia, or oligoarticular purulent arthritis affecting the distal joints. Diagnosis is contingent on clinical presentation, with urine nucleic acid amplification testing as the preferred diagnostic modality. Synovial fluid cultures, along with imaging, can confirm diagnosis. The recommended treatment is a third-generation cephalosporin, such as intravenous ceftriaxone for 7-14 days and a dose of oral azithromycin.

A qualitative exploration of the pathway to diagnosis and treatment of cutaneous squamous cell carcinoma of the head and neck with perineural spread.

Perineural spread (PNS) is associated with a poor prognosis in cutaneous squamous cell carcinoma of the head and neck (cSCCHN). Hence, investigating facilitators and barriers of early diagnosis and treatment of PNS in cSCCHN may improve outcomes. Patients were recruited from an institutional database. Semi-structured interviews were conducted according to the Model of Pathways to Treatment. Thematic analysis was based on the four main intervals in the framework using a data-driven analytical method. Seventeen participants were interviewed. Facilitators included patients' past experiences, symptom progression, trust in healthcare professionals (HCPs), and capacity to leverage relationships. Barriers included difficult diagnoses, limited access to cancer services, lack of care coordination, and lack of awareness of PNS among primary health care providers. These findings emphasise the complexity early diagnosis and treatment of PNS. Interventions like clinical practice guidelines, education for HCPs, and telehealth could facilitate timely detection and management.

The Differential Diagnosis between Cushing's Disease and Pseudocushing Syndrome in a Pre-agonic Patient.

The pseudo-Cushing's encompass several disorders that can occur in high-stress situations and that show biochemical features like those of Cushing's syndrome. We present a case with difficult differential diagnosis for overlapping laboratory findings. A 74-year-old man was admitted to our hospital for worsening dyspnoea for a month, 15 kilograms of weight loss in the previous months, asthenia, hypotonia, and muscle hypotrophy. Moreover, due to the onset of acute hypoxic-hypercapnic respiratory failure, the patient was treated with non-invasive ventilation and then admitted to the intensive care unit, for pneumonia and respiratory failure due to Meticillin-sensitive Staphylococcus aureus and Klebsiella Aerogenes. Antibiotic therapy was started. During the treatment in the ICU, the patient underwent endotracheal intubation for the worsening of respiratory function, and inotropic drug therapy was introduced for the development of septic shock. Hormones were tested, showing an ACTH-dependent hypercortisolism. The results of Nugent, Liddle, and the dexamethasone- suppressed CRH stimulation tests suggested a not-neoplastic ACTH-dependent hypercortisolism. The pituitary contrasted magnetic resonance image showed gland hypertrophy, and the abdominal computed tomography ruled out adrenal lesions. Unfortunately, the patient developed a multi-organ failure and died. The autopsy finding confirmed the absence of pituitary and other neuroendocrine tumors and showed bilateral adrenal hypotrophy. Our clinical case described a patient with pseudo-Cushing's syndrome during sepsis and pre-agonist phase, with a difficult differential diagnosis, in which the combination of the low-dose dexamethasone suppression test and the CRH test allowed a conclusive and correct diagnostic orientation.

Vitreoretinal large B- cell lymphoma (VR- LBCL): Clinical and pathological features and treatment outcomes

ContextVitreoretinal large B- cell lymphoma (VR- LBCL) is a type of non- Hodgkin lymphoma confined to the eye and central nervous system (CNS). The clinical manifestations of intraocular lymphoma can precede, occur simultaneously with, or follow disease at CNS sites. It differs from other forms of extra-nodal lymphoma; in that it does not involve systemic sites other than CNS. ObjectivesTo analyse the clinical and pathological features, and treatment outcomes of a cohort of patients diagnosed with vitreoretinal lymphoma (VRL) in Royal Victoria Eye and Ear Hospital, Ireland between 2010 and 2024. MethodRetrospective review of medical records and pathology specimens of patients with ocular involvement in VR- LBCL over 14-year period and a review of the literature. ResultsEight patients were included. All of them underwent pars plana vitrectomy and were confirmed to have VR- LBCL. The median age at diagnosis was 71 years. Three were men and five were women. Six had bilateral disease and two unilateral. Four of four patients had MYD88 L265P mutation present. Four patients showed a high interleukin-10 (IL-10) to interleukins-6 (IL-6) ratio in keeping with the diagnosis of VRL. Three patients had primary CNS lymphoma with subsequent eye involvement, despite systemic chemotherapy treatment. Of the five patients who presented with ocular lymphoma, two patients had CNS involvement after primary vitreoretinal lymphoma was diagnosed. Of those, one was initially treated with local intravitreal chemotherapy. Three patients had no CNS recurrence. At the time of this study, seven patients of eight are alive, four are disease free and two are on a first- line local chemotherapy treatment. One underwent treatment for CNS relapse. One patient died of the disease before commencing targeted therapy. ConclusionThis case series demonstrated excellent treatment outcomes for seven patients, alive at the time of the study. Both local radiotherapy and intravitreal chemotherapy achieved good ocular control with acceptable side effects and no significant difference in visual outcome. VRL is a difficult diagnosis and vitreous cytology should be prioritised in cases of vitritis unresponsive to treatment. Analysis of MYD88 L265P mutation and IL- 10: IL- 6 ratio >1 are useful adjuncts in the diagnosis of VR- LBCL, particularly in cases where limited vitreous material makes cytological evaluation challenging.

Fabry nephropathy: a treatable cause of chronic kidney disease

Fabry disease is a rare X-linked inborn error of metabolism that has a high prevalence of chronic kidney disease (CKD) and renal failure. It is due to the deficiency of the α-galactosidase A (α-Gal) lysosomal enzyme with subsequent accumulation of globotriaosylceramide (Gb3) in lysosomes. In the kidney, the podocyte is the main target of this disease, although all cell types are involved. The podocyte, being terminally differentiated, does not replicate and thus accumulates Gb3 throughout life. Podocytes are injured by Gb3, leading to their detachment from the glomerular basement membrane and subsequent loss in the urine. Albuminuria starts in childhood and progresses to overt proteinuria in the teens and 20 s. CKD ensues with adults starting dialysis at an average age of 42 years. Patients have a high prevalence of stroke and cardiomyopathy with hypertrophic change, heart failure, and dysrhythmias. Patient survival is limited in both genders. Diagnosis is based on the demonstration of a low α-Gal activity and a pathogenic GLA mutation. Clinical features are highly variable, which makes recognition of this condition difficult. Treatment with intravenous recombinant human enzyme replacement therapy (ERT) and oral pharmacologic chaperone are available. Control of proteinuria to 0.5 g/day or less is of critical importance to limit progression to end-stage renal disease. Early initiation of treatment gives the best results, but the optimal age to start is uncertain. Fabry nephropathy remains a challenge due to its multisystem nature, difficult diagnosis, and complicated management. It is important as a treatable cause of CKD.

Interpreting Difficult Conversations-Evaluating How to Support Medical Interpreters in the Delivery of Serious News.

Background: Despite their essential role in language concordant patient care, medical interpreters do not routinely receive training focused on difficult conversations and may not feel comfortable interpreting these encounters. Previous studies, while acknowledging the need for increased support, have provided limited strategies targeted at enhancing interpreter training and improving interpreter comfort levels in difficult conversations. Methods: Fifty-seven in-person medical interpreters providing services at our quaternary and community hospitals completed a 21-question mixed-methods survey regarding their comfort levels and experiences surrounding serious illness conversations. Results: Most medical interpreters reported being uncomfortable interpreting conversations surrounding difficult diagnosis, poor prognosis, and/or end-of-life. Nearly all respondents (98%) indicated that pre-meetings and/or debriefings with the medical team are helpful, yet only 25% reported frequent participation in these meetings. Conclusions: Our study highlighted the significant variability in medical interpreter training as well as ranging comfort levels in interpreting difficult conversations. Medical providers should not presume that interpreters are instantly prepared for these encounters. Current findings call for novel training opportunities specific to medical interpreters and difficult dialogues, as well as improved adherence of interprofessional pre-meeting/debriefings when serious news is discussed.

Diagnosing aortic dissection: A review of this elusive, lethal diagnosis.

Aortic dissection (AD) remains a difficult diagnosis in the emergency setting. Despite its rare occurrence, it is a life-threatening pathology that, if missed, is typically fatal. Previous studies have documented minimal improvement in timely and accurate diagnoses despite the advancement of computed tomography. Previous literature has highlighted aortic dissections as a major cause of serious misdiagnosis-related harm. The aim of this article is to review the available literature on AD, discussing the diversity in presentations and the prevalence of historical and exam features to better aid in the diagnosis of AD. AD remains a difficult diagnosis, even with the widespread prevalence of computed tomography angiography usage. No single feature of the history or physical examination is enough to raise suspicion. The diagnosis should be strongly considered in any patient with chest pain that is severe and unexplained by other findings or testing. Those who do not present with acute pain are often complicated by neurologic deficits, hypotension, or syncope. These patients suffer from a change in mental status limiting their ability to participate in the history and physical examination and have a higher rate of complications and mortality. An educated understanding of the atypical presentations of aortic dissection helps the clinician to realistically rank it on the differential diagnosis, culminating in judicious use of definitive imaging.

Deep learning pneumoconiosis staging and diagnosis system based on multi-stage joint approach

BackgroundPneumoconiosis has a significant impact on the quality of patient survival due to its difficult staging diagnosis and poor prognosis. This study aimed to develop a computer-aided diagnostic system for the screening and staging of pneumoconiosis based on a multi-stage joint deep learning approach using X-ray chest radiographs of pneumoconiosis patients.MethodsIn this study, a total of 498 medical chest radiographs were obtained from the Department of Radiology of West China Fourth Hospital. The dataset was randomly divided into a training set and a test set at a ratio of 4:1. Following histogram equalization for image enhancement, the images were segmented using the U-Net model, and staging was predicted using a convolutional neural network classification model. We first used Efficient-Net for multi-classification staging diagnosis, but the results showed that stage I/II of pneumoconiosis was difficult to diagnose. Therefore, based on clinical practice we continued to improve the model by using the Res-Net 34 Multi-stage joint method.ResultsOf the 498 cases collected, the classification model using the Efficient-Net achieved an accuracy of 83% with a Quadratic Weighted Kappa (QWK) score of 0.889. The classification model using the multi-stage joint approach of Res-Net 34 achieved an accuracy of 89% with an area under the curve (AUC) of 0.98 and a high QWK score of 0.94.ConclusionsIn this study, the diagnostic accuracy of pneumoconiosis staging was significantly improved by an innovative combined multi-stage approach, which provided a reference for clinical application and pneumoconiosis screening.

Cerebral Dermoid Cyst Ruptured Intraventricularly and in the Subarachnoid Spaces

The intrcranial dermoid cyst is a benign congenital tumor, which generally develops in the posterior fossa, extra-axially. Its spontaneous rupture represents a rare event, with a difficult clinical diagnosis, requiring the use of imaging. We report a case of a left frontal cerebral dermoid cyst spontaneously ruptured in the ipsilateral lateral ventricle and subarachnoid spaces which manifested by electric shock type headaches and diagnosed by brain CT.

Computational and biological approaches in repurposing ribavirin for lung cancer treatment: Unveiling antitumorigenic strategies

Lung cancer is among leading causes of death worldwide. The five-year survival rate of this disease is extremely low (17.8 %), mainly due to difficult early diagnosis and to the limited efficacy of currently available chemotherapeutics. This underlines the necessity to develop innovative therapies for lung cancer. In this context, drug repurposing represents a viable approach, as it reduces the turnaround time of drug development removing costs associated to safety testing of new molecular entities. Ribavirin, an antiviral molecule used to treat hepatitis C virus infections, is particularly promising as repurposed drug for cancer treatment, having shown therapeutic activity against glioblastoma, acute myeloid leukemia, and nasopharyngeal carcinoma. In the present study, we thoroughly investigated the in vitro anticancer activity of ribavirin against A549 human lung adenocarcinoma cells. From a functional standpoint, ribavirin significantly inhibits cancer hallmarks such as cell proliferation, migration, and colony formation. Mechanistically, ribavirin downregulates the expression of numerous proteins and genes regulating cell migration, proliferation, apoptosis, and cancer angiogenesis. The anticancer potential of ribavirin was further investigated in silico through gene ontology pathway enrichment and protein-protein interaction networks, identifying five putative molecular interactors of ribavirin (Erb-B2 Receptor Tyrosine Kinase 4 (Erb-B4); KRAS; Intercellular Adhesion Molecule 1 (ICAM-1); amphiregulin (AREG); and neuregulin-1 (NRG1)). These interactions were characterized via molecular docking and molecular dynamic simulations. The results of this study highlight the potential of ribavirin as a repurposed chemotherapy against lung cancer, warranting further studies to ascertain the in vivo anticancer activity of this molecule.

Forward Chaining Method in Expert System for Diagnosing Pests and Plant Diseases: A Systematic Literature Review

Pest and disease attacks on plants are very detrimental factors for farmers. Lack of knowledge leads to a difficult diagnosis of attacks and slow control. The technology that can help farmers in diagnosing plant pests and diseases is the expert system. One of the most widely used algorithms is forward chaining. Although there have been many used further research is needed to determine the effectiveness of this method. This research wants to find out more advantages, types of platforms used, and benefits of expert systems with forward chaining algorithms. This study uses a systematic method literature review (SLR) to collect, assess, and analyze data systematically from various scientific articles. The results of the study show that the use of forward chaining has advantages and benefits for developers and farmers.

Schwannomas: Experience from a single center reference in Peru.

e14043 Background: Schwannomas are nerve sheath tumors that originate in Schwann cells. They are usually solitary and sporadic and manifest on peripheral, spinal or cranial nerves. It is the most common type of benign peripheral nerve tumor in adults. These tumors represent a diagnostic challenge due to their rarity and difficult differential diagnosis. Our objective was to determine the clinical and pathological characteristics, as well as the therapeutic management of patients with Schwannoma admitted to our institution over a period of time. Methods: A retrospective, cross-sectional and descriptive study was carried out on the cases of patients with Schwannoma over 14 years of age, diagnosed at the National Institute of Neoplastic Diseases from 2009 to 2023. Medical records and pathology reports were reviewed. Results: A total of 225 patients were diagnosed with schwannoma on anatomopathology. Median age was 44 years, with a range of 15 to 92 years. 135 (60%) patients were female and 90 (40%) male, with a ratio of 1.5:1. 19 (8.4%) patients had a second cancer before or after the diagnosis of schwannoma. 6 (2.66%) patients were previously diagnosed with neurofibromatosis. According to anatomical origin: 27 (12%) patients had schwanommas of the abdominal region, 36 (16%) of the head and neck, 42 (18.66%) of the spinal cord, 17 (7.55%) of the extremities, 83 ( 36.88%) of the intracranial region and 20 (8.88%) of the thorax. At the intracranial level, 71 patients had location at the cerebellopontine angle, 5 at the orbital level, 2 at the level of the cerebellum and 5 in another location. At the abdominal level, 13 patients had a retroperitoneal location, 8 at the gastric level, 2 at the renal level and 4 in another location. In 130 patients we can obtain the ki67, median score was 2% (1-50%). Regarding treatment, 156 (69.33%) patients underwent surgery, and 42 (18.66%) patients received radiation treatment. During their follow-up, only 5 (2.22%) patients had local recurrence. Conclusions: Schwannomas are rare benign tumors. In many cases, its suspected diagnosis is difficult due to its similarity to other tumors that must be part of the differential diagnosis. Its treatment is surgical, with the objective of complete macroscopic resection. Radiotherapy is a complementary treatment in case of residual disease.

Difficult Diagnosis of Splenic Abscess During Treatment of Diabetic Foot Gangrene

Difficult Diagnosis of Splenic Abscess During Treatment of Diabetic Foot Gangrene

Dementia with Lewy bodies: Primary care PAs can make this difficult diagnosis.

Lewy body dementia is an umbrella term for dementia with Lewy bodies (DLB) and Parkinson disease dementia. These progressive, degenerative brain disorders link dementia with psychosis and parkinsonism and are difficult to diagnose. The diagnosis of DLB is challenging, especially in its early phase, because the presentation is variable. Relevant screening tools and a complete physical examination are essential. Making the correct diagnosis lets patients and caregivers make arrangements, have more timely access to services, improve patient quality of life, and lessen the burden on caregivers.

Bipolar disorder with personality disorders: A difficult diagnosis

Bipolar disorder poses some diagnostic difficulties because it is colored by the personality of the patients. What complicates the problem are the personality disorders, which make the diagnosis difficult. Comorbid personality disorders are frequent and may complicate the course of bipolar illness. We have much information about treating patients with uncomplicated Bipolar Disorder (BD) but much less knowledge about possibilities for patients with the comorbidity of BD and personality disorder. This review tries to make a point to avoid confusion.

Application value of 18F-FDG PET/CT in primary spleen angiosarcoma with liver metastasis: a case report and literature review

BackgroundPrimary splenic angiosarcoma (PSA) is a rare neoplasm. It is a malignant tumor derived from endothelial cells of the splenic sinuses. PSA has an unknown etiology, a high degree of malignancy, easy early metastasis, atypical clinical symptoms and imaging findings, and difficult early diagnosis. This paper reports the 18F-FDG PET/CT findings of a case of PSA with intrahepatic metastasis; summarizes its clinical, imaging, and pathological data; and reviews the literature.Case descriptionA 64-year-old male patient presented with left lower abdominal distending pain without obvious causes on 13 March 2022. The pain was persistent and dull and worsened after sitting and eating. Blood routine examination results were RBC ↓ 3.33 × 1012/L, WBC ↑ 12.32 × 109/L, and PLT ↓ 40 × 109/L. The tumor markers indicated CA125 ↑ 47.0 U/ml, AFP (−), CEA (−), CA199 (−), and CA724 (−). Non-contrast-enhanced CT scan of the abdomen showed that the spleen was significantly enlarged in volume and irregular in shape and had multiple nodules and clumpy low-density shadows, unclear boundaries, uneven density, and multiple necrotic areas. Enhanced CT showed diffuse uneven mild enhancement of the spleen, and the degree of enhancement increased with time. Multiple nodular low-density shadows were seen in the liver, which were slightly enhanced by the enhanced scan.18F-FDG PET/CT showed multiple nodular and massive lesions in the spleen with multiple necrotic areas. There were multiple nodular lesions in the liver, the level of FDG metabolism increased, the SUVmax of the spleen lesions was 9.0, and the SUVmax of the liver lesions was 5.6. The 18F-FDG PET/CT diagnosis was splenic malignancy with liver metastasis. Finally, after a multidisciplinary discussion, it was decided to perform laparoscopic total splenectomy and portal vein infusion chemotherapy. Pathological examination showed that the tumor cells were round, oval, or fusiform, with obvious atypia, arranged into a cable or anastomosed vascular lumen. The final diagnosis was primary splenic angiosarcoma with massive necrosis. After surgery, the patient received antitumor combined therapy and died 5 months later.ConclusionThe incidence of PSA is very low, and its clinical and radiological manifestations lack specificity. 18F-FDG PET/CT imaging has a certain diagnostic value for PSA and significant utility in preoperative staging, guiding biopsy procedures, evaluating postoperative treatment response, and monitoring disease recurrence. PSA should be considered in the presence of a space-occupying lesion within the spleen that exhibits necrotic areas, shows progressive enhancement on contrast-enhanced scans, and demonstrates heterogeneous increases in FDG uptake.

#1196 C3G and ic-MPGN across the life span: findings from the European Rare Kidney Disease Registry

Abstract Background and Aims C3 glomerulopathy (C3G) and immune complex-membranoproliferative glomerulonephritis (ic-MPGN) are two complement-mediated rare kidney disorders affecting both adults and children for which innovative therapies are under development. Due to the low prevalence and difficult diagnosis of the diseases, demographic and kidney outcome data are scarce. To obtain such information, we interrogated the European Rare Kidney Disease Registry (ERKReg), a Pan-European database of patients with rare kidney diseases treated at specialized adult and pediatric nephrology centers. Method Data on all patients diagnosed with C3G or ic-MPGN were extracted from the ERKReg database, to which more than 22, 000 incident and prevalent patients with rare kidney diseases were enrolled between October 2018 and December 2023. After exclusion of 32 patients with reported disease onset prior to 1998 to ensure compliance with contemporaneous diagnostic and treatment standards, 225 C3G and 173 ic-MPGN patients from 32 pediatric and 12 adult nephrology units in 16 European countries were available for analysis. Among these, 20.4% of C3G and 10.4% of ic-MPGN were incident patients who were enrolled either within 3 months of diagnosis or had diagnostic confirmation of suspected disease during prospective follow-up in ERKReg. Kaplan Meier actuarial survival analysis was performed to calculate time to kidney failure. Survival rates are given as median estimates and 95% confidence intervals. The impact of disease type and age at disease onset on kidney survival was assessed by Cox regression analysis. Results Overall, 80.9% of C3G and 33.5% of ic-MPGN patients had disease onset in childhood; the median (IQR) age at diagnosis was 12.4 (8.4-16.2) years for C3G and 38.9 (12.1-57.6) years for ic-MPGN. Genetic variants in CFH, CFHR1/3/5 and CFB were identified in 13 C3G (10.7% of tested) and 4 (14.8% of tested) ic-MPGN patients, and CFH autoantibodies in another 7 (17% of tested) C3G patients. Among the incident patients, 71.7% presented in CKD1 and 6.5% in CKD4/5 for C3G, as compared to 27.8% CKD1 and 27.7% CKD4/5 for ic-MPGN. Nephrotic-range proteinuria was present in 34% of incident C3G and 44% of ic-MPGN patients respectively. At last observation, 7.8% of childhood-onset and 17.1% of adult-onset C3G patients were on kidney replacement therapy (KRT) (thereof 71% and 86% with functioning transplant, respectively). For ic-MPGN at last observation, 14.6% of childhood-onset and 38.9% of adult-onset received KRT (thereof 62.5% and 69.0% with functioning graft, respectively). Kidney survival rates are given in the table below: The risk of progression to kidney failure within the observation period was approximately 60% higher in ic-MPGN vs. C3G (HR: 1.6; CI 95%: 0.9-2.8; p = 0.06) and was twice as high in patients with adult vs. pediatric disease onset (HR: 2.0; CI 95%: 1.2-3.3; P = .01). Conclusion C3G tends to manifest at earlier age than ic-MPGN. Altered complement regulation can be identified in subsets of patients with both disorders. Functional kidney impairment at first disease manifestation is more common and progression to kidney failure occurs more rapidly with ic-MPGN vs. C3G. Disease onset at adult age is associated with a more rapid disease progression compared to childhood-onset disease.