Atypical Presentation Of Disease Research Articles

Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis

Atypical Presentation of Hirschsprung's Disease in an Infant: Challenges in Early Diagnosis and Management of Recurrent Enterocolitis

Concurrent Coxsackievirus A6 Infection and Kawasaki Disease: A Case Report

Background and Clinical Significance: Kawasaki disease (KD) is an acute febrile vasculitis that primarily affects children and is associated with systemic inflammation, particularly in the coronary arteries. Coxsackievirus A6 (CVA6) has emerged as a significant agent in atypical presentations of hand, foot, and mouth disease (HFMD), raising the possibility of its involvement in KD. Case Presentation: This report presents the case of an 18-month-old Thai boy admitted with symptoms of high fever, sore throat, and ulcerative lesions, initially diagnosed with herpangina. As his condition progressed, additional KD symptoms developed, including conjunctival injection, rash, and elevated inflammatory markers, fulfilling the diagnostic criteria for KD. Notably, throat swab analysis confirmed CVA6 as the causative agent. Phylogenetic analysis revealed that the CVA6 strain closely aligned with Chinese strains from 2023, showing a high nucleotide sequence homology of 98.4%. Conclusions: In conclusion, this case highlights a possible association between CVA6-associated herpangina and KD, suggesting that CVA6 infection may act as a trigger for KD in genetically susceptible children. These findings highlight the need for increased awareness among healthcare providers to promptly identify and manage Kawasaki Disease during peak enterovirus seasons, reducing its impact on children.

Granulomatous secondary syphilis - 2 case reports and review of the literature.

Granulomatous inflammation is usually described in association with tertiary syphilis up till recent years where there are emerging cases reporting its presence in secondary syphilis. Herein we present two patients who presented with erythematous infiltrated papules and nodules and were eventually diagnosed with granulomatous secondary syphilis, with clearance of their rashes after treatment. In this article, we highlight the important clues that point clinicians and histopathologists towards the diagnosis of syphilis compared to other similar differentials such as leprosy in reaction, cutaneous histiocytosis and lymphoma. Additionally, from literature review and own experiences, we wish to highlight that granulomatous syphilis is often palmoplantar sparing and its presence may not necessarily be a feature of immunocompromised states (e.g. human immunodeficiency virus) In this increasingly connected world, the recognition of an atypical presentation of an age-old disease in patients with different skin types needs to be underscored with close clinicopathological correlation.

Unraveling Rarity: Atypical Presentation of Polycystic Kidney Disease

Unraveling Rarity: Atypical Presentation of Polycystic Kidney Disease

GLUTEAL HYDATID CYST PRESENTING AS AN ABSCESS: RARE CASE REPORT

Background: Hydatid disease is a parasitic infection primarily affecting the liver and lungs. Muscular involvement, especially in the gluteal region, is rare. Case Presentation: A 30-year-old woman presented with a left gluteal cystic lesion confirmed as a hydatid cyst through imaging and histopathology. Surgical excision and albendazole therapy led to a successful outcome. Conclusion: Awareness of atypical hydatid disease presentations is crucial for timely diagnosis and treatment, particularly in endemic areas like Morocco.

A Review of Hidradenitis Suppurativa in Special Populations: Considerations in Children, Pregnant and Breastfeeding Women, and the Elderly.

Hidradenitis suppurativa (HS) is a chronic skin condition that significantly impacts patients' quality of life. HS is often challenging to treat. In this review, we discuss the unique characteristics of HS in four special populations: children, the elderly, pregnant individuals, and breastfeeding mothers. In children, diagnosis may be delayed due to atypical and early HS disease presentations. HS management plans must take into consideration the lack of rigorous efficacy and safety data of HS treatments in this population. However, it is important to weigh the risk of treatments against the risk of untreated HS and the morbidity and mortality risk that having HS confers. Pregnancy poses unique challenges for women with HS, with their condition possibly worsening during pregnancy and increased risk of fetal death. Management strategies during pregnancy must consider both maternal and fetal safety. Similarly, breastfeeding mothers require thoughtful medication selection to balance symptom management with infant safety. In the elderly, HS may present more severely and is often complicated by comorbidities. Treating HS in this population should safely accommodate patients' additional health conditions. Furthermore, this review highlights the overall paucity of primary literature addressing management in these populations, underscoring the need for further research to optimize HS care across all stages of life.

A case of concurrent malnutrition in maple syrup urine disease: challenges and solutions in Indonesia

BackgroundMaple syrup urine disease (MSUD) is a rare autosomal recessive inborn error of metabolism characterised by the impaired breakdown of branched-chain amino acids. Detecting MSUD in newborns is challenging due to the lack of distinctive signs, especially in resource-limited settings like Indonesia.Case presentationA 2-year-old boy presented to the paediatric metabolic clinic with inactivity, a history of uncontrolled epilepsy, global developmental delay and moderate malnutrition. He was born at 40 weeks of gestation, weighing 3100 g, to consanguineous parents. The patient faced feeding problems and was lethargic after birth, with recurrent episodes of generalised seizure and spasticity. Diagnosed with MSUD at four months, the initial response to thiamine supplementation and MSUD Anamix formula was positive. However, weight loss occurred after switching to unregulated family food, as MSUD-specific infant formula became inaccessible and unsustainable due to high costs for the caregivers. Upon compliance with nutritional advice, the child regained weight and progressed appropriately for his age.ConclusionInborn errors of metabolism like MSUD should be considered in atypical disease presentations. In resource-limited settings, management should be tailored to local product availability and accessibility to ensure effective care.

A rare case of atypical tumoral presentation of calcium pyrophosphate dihydrate crystal deposition disease.

A rare case of atypical tumoral presentation of calcium pyrophosphate dihydrate crystal deposition disease.

Pneumonia With Empyema: A Rare Clinical Presentation of Bartonella henselae Infection in a 10-Year-Old Boy.

Cat-scratch disease is a common zoonosis in children. However, atypical clinical presentation of cat-scratch disease is less common, and lung involvement is particularly rare. The usual presentation of lung disease in bartonellosis includes other organ involvement and is more common in immunocompromised patients. We present a 10-year-old immunocompetent patient with pneumonia and inoculated empyema caused by Bartonella henselae, without any other organ involvement, which occurred 2 weeks after lymphadenopathy. The definite diagnosis was established using the polymerase chain reaction of the empyema obtained from thoracocentesis. The boy was treated with several antibiotics (ceftriaxone, azithromycin, amoxicillin with clavulanic acid, meropenem and vancomycin) and completely recovered after the 3-month follow-up period. This is a unique case of the difficult-to-treat pneumonia with inoculated empyema, caused by B. henselae, in an immunocompetent child, without any other organ involvement. The clinical course was favorable. A high level of clinical suspicion is mandatory for the diagnosis.

Comorbid neuropathology and atypical presentation of Alzheimer's disease.

Alzheimer's disease (AD) neuropathological changes present with amnestic and nonamnestic (atypical) syndromes. The contribution of comorbid neuropathology as a substratum of atypical expression of AD remains under investigated. We examined whether atypical AD exhibited increased comorbid neuropathology compared to typical AD and if such neuropathologies contributed to the accelerated clinical decline in atypical AD. We examined 60 atypical and 101 typical AD clinicopathological cases. The number of comorbid pathologies was similar between the groups (p=0.09). Argyrophilic grain disease was associated with atypical presentation (p=0.008) after accounting for sex, age of onset, and disease duration. Vascular brain injury was more common in typical AD (p=0.022). Atypical cases had a steeper Mini-Mental Status Examination (MMSE) decline over time (p=0.033). Comorbid neuropathological changes are unlikely to contribute to atypical AD presentation and the steeper cognitive decline seen in this cohort. Autopsy cohort of 60 atypical and 101 typical AD; does comorbid pathology explain atypical presentation?Atypical versus Typical AD: No significant differences in comorbid neuropathologies were found (p=0.09).Argyrophilic Grain Disease Association: significantly correlates with atypical AD presentations, suggesting a unique neuropathological pattern (p=0.008).Vascular Brain Injury Prevalence: Vascular brain injury is more common in typical AD than in atypical AD (p=0.022).Cognitive Decline in Atypical AD: Atypical AD patients experience a steepercognitive decline measured by MMSE than those with typical AD despite lacking more comorbid neuropathology, highlighting the severity of atypical AD pathogenesis (p=0.033).

Atypical presentation of Cushing's disease with weight loss and hypokalemia.

ACTH-secreting pituitary adenomas causing Cushing's disease (CD) typically present with weight gain, whereas weight loss and hypokalemia in endogenous Cushing's patients are suggestive of ectopic ACTH production. We report a case of CD presenting with atypical features of marked weight loss and hypokalemia. A 75-year-old female was admitted to the hospital with a history of profound weight loss, associated with uncontrolled hypertension, hyperglycemia, severe proximal muscle weakness, and hypokalemia. Subsequent investigations, including 24-h urinary free cortisol, 48-h low-dose dexamethasone suppression test, MRI of the sella, and bilateral inferior petrosal sinus sampling, confirmed CD without any evidence of ectopic ACTH production. She became eucortisolemic with medical therapy of ketoconazole and cabergoline, subsequently regained her weight, and became normokalemic. This case illustrates that patients with CD may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production. Patients with CD do not always present with classical clinical features and may present with symptoms and biochemical findings that would otherwise suggest ectopic ACTH production. While most patients with CD typically lose weight after biochemical remission, some patients gain weight after the normalization of cortisol levels. This case highlights the need to entertain a broad differential in patients presenting with hypokalemia and weight loss and the need to exclude hypercortisolemia.

Evaluation of ChatGPT-Generated Differential Diagnosis for Common Diseases With Atypical Presentation: Descriptive Research.

The persistence of diagnostic errors, despite advances in medical knowledge and diagnostics, highlights the importance of understanding atypical disease presentations and their contribution to mortality and morbidity. Artificial intelligence (AI), particularly generative pre-trained transformers like GPT-4, holds promise for improving diagnostic accuracy, but requires further exploration in handling atypical presentations. This study aimed to assess the diagnostic accuracy of ChatGPT in generating differential diagnoses for atypical presentations of common diseases, with a focus on the model's reliance on patient history during the diagnostic process. We used 25 clinical vignettes from the Journal of Generalist Medicine characterizing atypical manifestations of common diseases. Two general medicine physicians categorized the cases based on atypicality. ChatGPT was then used to generate differential diagnoses based on the clinical information provided. The concordance between AI-generated and final diagnoses was measured, with a focus on the top-ranked disease (top 1) and the top 5 differential diagnoses (top 5). ChatGPT's diagnostic accuracy decreased with an increase in atypical presentation. For category 1 (C1) cases, the concordance rates were 17% (n=1) for the top 1 and 67% (n=4) for the top 5. Categories 3 (C3) and 4 (C4) showed a 0% concordance for top 1 and markedly lower rates for the top 5, indicating difficulties in handling highly atypical cases. The χ2 test revealed no significant difference in the top 1 differential diagnosis accuracy between less atypical (C1+C2) and more atypical (C3+C4) groups (χ²1=2.07; n=25; P=.13). However, a significant difference was found in the top 5 analyses, with less atypical cases showing higher accuracy (χ²1=4.01; n=25; P=.048). ChatGPT-4 demonstrates potential as an auxiliary tool for diagnosing typical and mildly atypical presentations of common diseases. However, its performance declines with greater atypicality. The study findings underscore the need for AI systems to encompass a broader range of linguistic capabilities, cultural understanding, and diverse clinical scenarios to improve diagnostic utility in real-world settings.

Unusual imaging findings associated with abdominal pediatric germ cell tumors.

Germ cell tumors of childhood are tumors arising from germline cells in gonadal or extragonadal locations. Extragonadal germ cell tumors are characteristically located in the midline, arising intracranially or in the mediastinum, retroperitoneum, or pelvis. These tumors are generally easily diagnosed due to typical sites of origin, characteristic imaging findings, and laboratory markers. However, germ cell tumors can be associated with unusual clinical syndromes or imaging features that can perplex the radiologist. This review will illustrate atypical imaging/clinical manifestations and complications of abdominal germ cell tumors in childhood. These features include unusual primary tumors such as multifocal primaries; local complications such as ovarian torsion or ruptured dermoid; atypical presentations of metastatic disease associated with burned-out primary tumor, growing teratoma syndrome, and gliomatosis peritonei; endocrine manifestations such as precocious puberty and hyperthyroidism; and antibody mediated paraneoplastic syndrome such as anti-N-methyl-D-aspartate-receptor antibody-mediated encephalitis. This review aims to illustrate unusual imaging features associated with the primary tumor, metastatic disease, or distant complications of abdominal germ cell tumors of childhood.

Atypical presentation of Lyme disease.

Atypical presentation of Lyme disease.

A Case of Dengue Meningitis Manifested as a Part of Expanded Dengue Syndrome

Dengue is a prevalent arthropod-borne viral disease in tropical and subtropical areas of the globe. Dengue clinical manifestations include asymptomatic infections; undifferentiated fever; dengue fever, which is characterized by fever, headache, retro orbital pain, myalgia, and arthralgia; and a severe form of the disease denominated dengue hemorrhagic fever/dengue shock syndrome, characterized by hemoconcentration, thrombocytopenia, and bleeding tendency. However, atypical manifestations, such as liver, central nervous system, and cardiac involvement, have been increasingly reported called expanded dengue syndrome. We report a 35 years old lady with atypical and rare presentation of dengue disease marked by meningitis. Condition improved after conservative treatment. Neurological complications in dengue are now increasingly observed with the most common case is aseptic meningitis. Dengue meningitis is self-limiting in almost all cases. Hepatic failure rarely dominates the clinical picture in adults. The main mechanism of dengue meningitis is still unknown though both direct viral infection and immune mediated damage have been suggested to be the cause. To avoid otherwise preventable morbidity and mortality, physicians should have a high index of suspicion for neurological complications in patients with dengue illness and should manage this accordingly

Lobar Microbleeds in the Posterior Cortical Atrophy Syndrome: A Comparison to Typical Alzheimer's Disease.

Posterior cortical atrophy is a clinico-radiographical syndrome that presents with higher-order visual dysfunction and is most commonly due to Alzheimer's disease. Understanding factors associated with atypical presentations of Alzheimer's disease, such as posterior cortical atrophy (PCA), holds promise to shape our understanding of AD pathophysiology. Thus, we aimed to compare MRI evidence of lobar microbleeds (LMBs) in posterior cortical atrophy (PCA) syndrome to typical AD (tAD) and to assess and compare MRI evidence of cerebral amyloid angiopathy (CAA) in each group. We retrospectively collected clinical and MRI data from participants with PCA (n = 26), identified from an institutional PCA registry, and participants with tAD (n = 46) identified from electronic health records from a single institution. LMBs were identified on susceptibility-weighted imaging (SWI); the Fazekas grade of white matter disease was assessed using FLAIR images, and Boston criteria version 2.0 for cerebral amyloid angiopathy were applied to all data. The proportion of participants with PCA and LMB (7.7%) was lower than for tAD (47.8%) (p = 0.005). The frequency of "probable" CAA was similar in both groups, while "possible" CAA was more frequent in tAD (30.4%) than PCA (0%) (p = 0.001). The Fazekas grades were not different between groups. Lobar microbleeds on SWI were not more common in PCA than in typical AD. Clinicopathological investigations are necessary to confirm these findings. The factors that contribute to the posterior cortical atrophy phenotype are unknown.

Diagnostic uncertainty and decision-making in home-based primary care: A qualitative study of antibiotic prescribing.

Evaluating infection in home-based primary care is challenging, and these challenges may impact antibiotic prescribing. A refined understanding of antibiotic decision-making in this setting can inform strategies to promote antibiotic stewardship. This study investigated antibiotic decision-making by exploring the perspectives of clinicians in home-based primary care. Clinicians from the Department of Veterans Affairs Home-Based Primary Care Program were recruited. Semi-structured interviews were conducted from June 2022 through September 2022 using a discussion guide. Transcripts were analyzed using grounded theory. The constant comparative method was used to develop a coding structure and to identify themes. Theoretical saturation was reached after 22 clinicians (physicians, n = 7; physician assistants, n = 2, advanced practice registered nurses, n = 13) from 19 programs were interviewed. Mean age was 48.5 ± 9.3 years, 91% were female, and 59% had ≥6 years of experience in home-based primary care. Participants reported uncertainty about the diagnosis of infection due to the characteristics of homebound patients (atypical presentations of disease, presence of multiple chronic conditions, presence of cognitive impairment) and the challenges of delivering medical care in the home (limited access to diagnostic testing, suboptimal quality of microbiological specimens, barriers to establishing remote access to the electronic health record). When faced with diagnostic uncertainty about infection, participants described many factors that influenced the decision to prescribe antibiotics, including those that promoted prescribing (desire to avoid hospitalization, pressure from caregivers, unreliable plans for follow-up) and those that inhibited prescribing (perceptions of antibiotic-associated harms, willingness to trial non-pharmacological interventions first, presence of caregivers who were trusted by clinicians to monitor symptoms). Clinicians face the difficult task of balancing diagnostic uncertainty with many competing considerations during the treatment of infection in home-based primary care. Recognizing these issues provides insight into strategies to promote antibiotic stewardship in home care settings.

Disseminated cryptococcosis in a patient with idiopathic CD4 + T lymphocytopenia presenting as prostate and adrenal nodules: diagnosis from pathology and mNGS, a case report

Disseminated Cryptococcosis infection typically occurs in immunocompromised patients, often manifested as pneumonia or meningoencephalitis. Cases with involvement of either prostate or adrenal glands are less frequent. We describe a case of an immunocompromised 62-year-old man with new-found Idiopathic CD4 + T lymphocytopenia who presented with urinary irritation symptoms followed by headache. The patient was finally diagnosed as disseminated cryptococcosis of prostate, adrenal gland involvement with the help of combining histopathology of formalin-fixed, paraffin-embedded tissue with metagenomic next-generation sequencing technique to identify C neoformans sensu stricto in prostate, adrenal gland tissues. Clinicians should be aware of atypical presentations of cryptococcal disease. In this case of cryptococcosis in immunocompromised patients, we find that cryptococcosis can affect varied organs simultaneously and should be considered in the differential of infectious diseases. And mNGS technology helps to confirm the diagnosis.

Kiosk 8Q-TA-04 - Diagnosis of an Atypical Presentation of Fabry Disease with Cardiac MRI

Kiosk 8Q-TA-04 - Diagnosis of an Atypical Presentation of Fabry Disease with Cardiac MRI

Features of COVID-19 in the Elderly

The Coronavirus Disease 2019 (COVID-19) pandemic has caused havoc across the world over the past three years. The elderly people suffered the most during this unprecedented global public health calamity. The degree of suffering was magnified many fold in the elderly and frail individuals. They experienced atypical clinical disease presentation and developed more severe disease. Morbidity and mortality was also significantly higher in this group. Various risk factors have been identified that explain why older individuals are afflicted disproportionately and why they have an increased need for intensive care. Notably, severity of infections, vaccine-induced immune responses, and long-term outcomes of COVID-19 were also accentuated in the elderly, which have been explored in this review article.