Atypical Presentation Research Articles

‘When nature breaks the rules’: Guillain-barré syndrome presenting with descending paralysis

Guillain-Barré Syndrome (GBS) typically presents with ascending paralysis, but we report an atypical case involving descending paralysis in a 36-year-old male. The patient experienced upper limb weakness and respiratory muscle involvement, progressing to respiratory distress. Initial cerebrospinal fluid (CSF) analysis and nerve conduction studies (NCS) were normal, delaying the diagnosis. Treatment with intravenous immunoglobulin (IVIG) led to partial recovery. This case highlights the diagnostic challenges of atypical GBS presentations and the importance of early intervention.

AN ATYPICAL CASE OF INFECTIOUS MONONUCLEOSIS – CASE REPORT

Aims: Infectious mononucleosis, caused by the Epstein-Barr virus (EBV), typically presents with fever, exudative pharyngitis and lymphadenopathy. However, atypical presentations can complicate diagnosis and treatment. The objective of this paper is to illustrate the atypical progression of infectious mononucleosis and to delineate the differential diagnosis that should be considered. Additionally, it outlines the therapeutic approaches for managing symptoms associated with the disease. Case Description: A 25-year-old woman presented at a GP's office with eyelid edema, fever, and significant weight loss. Initial tests and treatments were inconclusive, leading to further investigations. Despite typical treatment for viral infections, the patient’s condition worsened, displaying dyspnoea, acute hepatitis, rash, significantly elevated ESR, hemolytic anemia, leukopenia, and thrombocytopenia. Hospitalization was required for comprehensive care, including steroid therapy and fluid management. Conclusions: This case highlights the diagnostic challenges posed by atypical presentations of infectious mononucleosis and underscores the importance of considering EBV infection in the differential diagnosis. Early recognition and appropriate management are crucial for optimal patient outcomes.

FDG-PET patterns associate with survival in patients with prion disease.

Prion disease classically presents with rapidly progressive dementia, leading to death within months of diagnosis. Advances in diagnostic testing have improved recognition of patients with atypical presentations and protracted disease courses, raising key questions surrounding the relationship between patterns of neurodegeneration and survival. We assessed the contribution of fluorodeoxyglucose (FDG-PET) imaging for this purpose. FDG-PET were performed in 40 clinic patients with prion disease. FDG-PET images were projected onto latent factors generated in an external dataset to yield patient-specific eigenvalues. Eigenvalues were input into a clustering algorithm to generate data-driven clusters, which were compared by survival time. Median age at FDG-PET was 65.3 years (range 23-85). Median time from FDG-PET to death was 3.7 months (range 0.3-19.0). Four data-driven clusters were generated, termed "Neocortical" (n = 7), "Transitional" (n = 12), "Temporo-parietal" (n = 13), and "Deep nuclei" (n = 6). Deep nuclei and transitional clusters had a shorter survival time than the neocortical cluster. Subsequent analyses suggested that this difference was driven by greater hypometabolism of deep nuclei relative to neocortical areas. FDG-PET-patterns were not associated with demographic (age and sex) or clinical (CSF total-tau, 14-3-3) variables. Greater hypometabolism within deep nuclei relative to neocortical areas associated with more rapid decline in patients with prion disease and vice versa. FDG-PET informs large-scale network physiology and may inform the relationship between spreading pathology and survival in patients with prion disease. Future studies should consider whether FDG-PET may enrich multimodal prion disease prognostication models.

Appendectomy for suspected appendicitis during pregnancy– a retrospective comparative study of 99 pregnant and 1796 non-pregnant women

IntroductionSuspected appendicitis is the most common indication for non-obstetric surgery during pregnancy. Diagnosis and management of these patients can be challenging. Atypical clinical presentation has been described before, but the current literature consists mostly of small case series. Therefore, we conducted a large retrospective study to analyze the frequency and diagnostic accuracy of clinical signs, laboratory findings and imaging modalities in pregnant woman undergoing surgery for suspected appendicitis compared to a control group of non-pregnant women of childbearing age. We further describe intra- and postoperative findings in both groups.MethodsData from consecutive patients who underwent appendectomy for suspected appendicitis during pregnancy were retrieved from the electronic patient database and analyzed. Preoperative clinical, laboratory and imaging findings as well as intra- and postoperative characteristics were compared between pregnant and non-pregnant women.ResultsBetween January 2008 and June 2023, 99 pregnant woman and 1796 non-pregnant woman between the ages of 16 and 49 underwent emergency surgery for suspected appendicitis. Pregnant women were less likely to have right lower quadrant tenderness (p = 0.002), guarding (p = 0.011) and rebound tenderness (p = 0.097). A greater percentage of pregnant women had a symptom duration of more than 24 h before presentation (p = 0.003) Abdominal ultrasound showed a reduced diagnostic accuracy in pregnant women (p = 0.004). MRI was used in eight pregnant women and showed a diagnostic accuracy of 100%. Pregnant women had a longer operating time (p = 0.006), a higher rate of open appendectomies or conversion (p < 0.001) and a longer postoperative hospital stay (3.2 days vs. 2.2 days, p < 0.001). The perforation rate was also higher in pregnant women at 16% vs. 10% (p = 0.048).ConclusionThe diagnosis of acute appendicitis during pregnancy presents a challenge for the clinician. Our data confirm the paradigm of “atypical presentation” which should lead to an extended diagnostic workup. Ultrasound showed less diagnostic accuracy in pregnant women in our study. MRI is a useful tool to reduce uncertainty and the rate of negative appendectomies.

Unveiling the Uncommon: A Case of Eosinophilic Granulomatosis With Polyangiitis Featuring Atypical Presentation and Diagnostic Challenges

Unveiling the Uncommon: A Case of Eosinophilic Granulomatosis With Polyangiitis Featuring Atypical Presentation and Diagnostic Challenges

NICE guidance in the rapid access chest pain clinic: does it work?

Abstract Background Rapid Access Chest Pain Clinics (RACPC) were developed following the publication of the National Service Framework for Coronary Heart Disease in 2000(1). The National Institute for Health and Care Excellence (NICE) produces guidelines for the management of patients with recent onset chest pain of suspected cardiac origin(2). In 2016 the guidance was updated and recommended the use of CT coronary angiography (CTCA) as the initial investigation for patients with chest pain which was typical or atypical of angina. Adherence to the guideline may be dependent upon factors such as local availability of CT scanners and clinician preference. The RACPC in this tertiary centre is nurse-run with no medical involvement. There is good engagement with the CT department and in July 2017 the NICE guidance was adopted in the clinic. Purpose To evaluate the use of CTCA as the first line investigation for patients with typical or atypical chest pain. Methods Data from all patients reviewed in the clinic between 01/07/2017 and 31/12/2023 were prospectively collected, entered into a database, and then retrospectively analysed. The data were organised into 3 groups: patients with typical chest pain; atypical pain and those with non-cardiac sounding chest pain. The number of patients in each group who underwent a CTCA, and the outcome of the scan were evaluated. The CT scans were categorised as showing significant coronary artery disease (CAD), non-obstructive CAD, no CAD, or as inconclusive. The outcome of patients who had a positive CTCA was also recorded. Results 2986 patients were reviewed in the RACPC in the above period. 14.2% of patients presented with typical pain, 47.4% with atypical pain, and 30.6% had non-cardiac pain. The remaining patients presented with other symptoms such as breathlessness. CTCA was used as the first investigation in the majority of patients with typical or atypical pain, unless alternative investigations or management were deemed to be more clinically appropriate. In 59.5% of typical and 78.5% of atypical presentations, the CT scan showed no CAD, or non-significant CAD. There was a low incidence of positive scans in both groups, however patients with typical pain were more likely to have significant CAD (Table). All patients who had a CTCA indicating significant CAD, were referred for invasive angiography. 88.0% of typical presentations, and 64.0% of those with atypical pain, underwent revascularisation. No patient who underwent invasive angiography was found to have normal coronary arteries. Conclusion Atypical pain is the most frequent presentation in the RACPC, however the majority of these patients, and most of those with typical pain, do not have significant CAD. Careful assessment and the use of CTCA as the initial investigation, enable the identification of those patients who need invasive angiography. This is a cost-effective strategy which also reduces risk and radiation exposure for patients.

Chronic appendicitis misdiagnosed as a periappendiceal orifice polyp: a case report

BackgroundUnlike acute appendicitis, chronic appendicitis is characterized by nonspecific abdominal pain and intermittent course. This may lead to late diagnosis or misdiagnosis, with the possibility of serious complications.Case reportA male patient of Arab origin aged 55 years had a 2-year history of recurrent episodes of mild pain in the right lower quadrant of the abdomen. The episodes were associated with nausea, chills, and abdominal bloating but no vomiting, rectal bleeding, or weight loss. On examination, the patient showed soft and lax abdomen with mild tenderness in the right lower quadrant, with no organomegaly or abdominal masses. Laboratory findings showed normal complete blood count and C-reactive protein. The patient underwent colonoscopy to rule out malignancy, which showed appendiceal orifice polyp that required resection. The computed tomography scan showed an enlarged appendix with multiple intraluminal dense appendicoliths. The largest stone at the appendiceal orifice measured 1.5 cm × 0.9 cm and was partially protruding within the cecal lumen. The diagnosis of chronic appendicitis was confirmed. The patient underwent appendectomy and was asymptomatic a few days after discharge.ConclusionsWe are reporting a patient with chronic appendicitis presented with multiple appendicoliths. The patient was initially misdiagnosed as periappendiceal orifice polyp. The current finding highlights the importance of imaging, especially computed tomography in confirming the diagnosis in patients with atypical appendicitis presentation.

A Rare Presentation of Breast Filariasis: A Case Report

Background: Filariasis is a common tropical disease but filariasis in breast is uncommon. Mostly, presentation is with typical symptoms of inflammation and lump. Atypical presentation is very rare and needs to be reported. Case Presentation: We report a case of breast filariasis with its atypical presentation and challenges faced for diagnosis. Patient was successfully treated with DEC (Di-ethyl-carbamazine). Conclusion: A high index of suspicion is required for its diagnosis in endemic zones even with atypical presentation, only then can correct treatment for the disease be given and prevention in progression and spread of disease achieved. This case report urges clinicians to keep a fair degree of clinical suspicion for parasitic infections as a cause of breast lump, especially in endemic countries and when presentation is atypical.

Dextrocardia with complete atrioventricular block—the right clinical approach to pace a heart on the right hemithorax: a case report

BackgroundA heart positioned on the right side of the thorax can be more a complex situation than it seems, also the potentially associated congenital cardiopathies are variable. In this regard, patients with dextrocardia presenting with complete atrioventricular block require a thorough anatomical investigation to map the veno-arterial system and potential cardiovascular defects before proceeding with a permanent pacing procedure.Case presentationA 73-year-old Caucasian woman with no significant medical history presented with syncope. Physical examination showed regular heart sounds with an average heart rate of 35–40 beats per minute and no other relevant physical findings. Chest X-rays revealed a heart positioned in the right hemithorax. A standard electrocardiogram revealed complete atrioventricular block with junctional escape rhythm at nearly 35–40 beats per minute. A transthoracic echocardiogram showed a mirror image dextrocardia without any other remarkable abnormalities. Venogram performed using the left peripheral cephalic vein showed normal venous return into the right atrium positioned on the left side. Surgical intervention consisted of permanent dual chamber pacemaker implantation using the left subclavian vein. Discussion is provided based on the relevant medical literature outlining different potential scenarios with associated cardiac and major vessels abnormalities.ConclusionThis case highlights an atypical presentation of atrioventricular block in a patient with dextrocardia and situs inversus, for whom a successful dual-pacemaker implantation procedure was performed.

Atypical Presentation of Skull Base Osteomyelitis Involving the Stylomastoid Foramen—A Case Report

Atypical Presentation of Skull Base Osteomyelitis Involving the Stylomastoid Foramen—A Case Report

Imaging manifestations and misdiagnosis of liposclerosing myxofibroma fumor

To focus on the imaging features of liposclerosing myxofibrous tumor (LSMFT) and diagnostic challenges to enhance clinical recognition and differential diagnosis accuracy. Retrospective analysis was conducted on the imaging and pathological data from 21 cases diagnosed with LSMFT between January 2014 and November 2022, including 14 males and 7 females (aged from 21 to 73 years; the course of disease ranged from 4 to 48 months). Patient demographics, clinical presentations, and imaging modalities including X-ray, CT, and MRI were reviewed. Pathological findings were correlated with imaging features to delineate diagnostic criteria and identify causes of misdiagnosis. All 21 patients represented primary lesions, located in 14 bilateral femurs [9 on the right and 5 on the left; 12 proximal femurs (intertrochanteric and peripheral) and 2 distal femurs], 2 proximal tibia, 2 proximal humerus, 1 proximal radius, and 1 ilium and 1 calcaneus. On X-ray and CT, all lesions showed cartographical or quasi-circular osteolytic destruction with distinct and sclerotic margins, continuous bone cortex, absence of periosteal reaction and surrounding soft tissue mass. Calcification, bone ridge and varying degrees of fat components were observed in 16 lesions, displaying mixed density;5 lesions showed ground-glass density with minimal bone ridge. On MRI, the signal intensity of the lesion was heterogeneous. T1-weighted imaging showed iso-to slightly high signal intensity, while T2-weighted imaging demonstrated unevenly high signal intensity. Fat-suppressed sequences depicted significantly elevated signal intensity within lesions, with post-contrast enhancement showing uneven patterns. 5 Cases were initially misdiagnosed as fibrous dysplasia. LSMFT is an uncommon benign bone tumor, typically localized in the proximal femur but occasionally found in other skeletal sites. Understanding its distinct imaging characteristics is crucial for accurate diagnosis. Typical cases exhibit identifiable imaging patterns, whereas atypical presentations may lead to misdiagnosis as fibrous dysplasia.

Ossification of the medial collateral and lateral collateral ligament of knee in a 19-year-old female

This case report discusses an uncommon presentation of Pellegrini-Stieda syndrome (PSS), characterized by ossification of the medial collateral ligament (MCL) of the knee, extending to the lateral collateral ligament (LCL) in a 19-year-old female patient. Typically, PSS involves post-traumatic calcification of the MCL, but this case uniquely presents ossification in both the MCL and LCL, a phenomenon not widely documented. The patient, a young laborer from a lower socio-economic background, developed knee pain and restricted movement following a fall. Diagnostic imaging revealed the unusual ossifications, leading to a diagnosis of PSS. The patient was treated with steroid injections under fluoroscopic guidance, resulting in significant improvement in knee mobility. This report highlights the importance of recognizing atypical presentations of PSS for accurate diagnosis and treatment, emphasizing the need for further research into the underlying mechanisms and optimal management strategies for such cases.

Acute appendicitis due to extrapulmonary tuberculosis

Introduction and ImportanceTuberculous appendicitis is very infrequent, estimated to occur in only 0.1% of all appendectomies. Appendicular tuberculosis can manifest as either a primary or secondary infection. Primary appendicular tuberculosis is even more uncommon and occurs in the absence of any detectable primary focus elsewhere in the body. Case presentationIn this report, we present a challenging case of primary tuberculous appendicitis that does not appear to have originated from the lungs. This case highlights the importance of considering tuberculosis in the differential diagnosis of appendicitis, especially in regions where tuberculosis is endemic or in patients with a history of tuberculosis exposure. Clinical DiscussionDiagnosing tuberculous appendicitis can be challenging due to its rarity and the non-specific nature of its symptoms, which often mimic those of more common conditions such as acute appendicitis and because of these non-specific symptoms, tuberculous appendicitis is mostly diagnosed only after surgical intervention. ConclusionThis case underscores the need for a high index of suspicion and thorough diagnostic evaluation in patients with atypical presentations of appendicitis specifically in patients with chronic complaints. Treatment typically involves a combination of surgical intervention to remove the affected appendix and a prolonged course of anti-tuberculous medication to eradicate the infection and prevent recurrence.

Atypical presentation of PJP: hypercalcemia and kidney injury in an allogeneic stem cell transplant recipient

BackgroundPneumocystis jirovecii pneumonia (PJP) is an opportunistic infection that primarily affects immunocompromised individuals. Typical symptoms of PJP include the subacute onset of dyspnea, nonproductive cough, and low-grade fever. In hematology patients, particularly those who are allogeneic stem cell transplant recipients, the disease often presents with a more aggressive clinical course. While hypercalcemia has been documented as a manifestation of PJP in some solid organ transplant recipients, it has not been reported in hematology or stem cell transplant patients.Case presentationHere, we present a case of PJP in a 56-year-old male allogeneic stem cell transplant recipient, who developed hypercalcemia and renal failure during the late post-transplant period. The patient had a history of allogeneic stem cell transplantation due to acute myeloid leukemia. He presented with symptoms of fatigue and weakness. Laboratory tests revealed hypercalcemia (13.8 mg/dL) and elevated serum creatinine levels (2.3 mg/dL). The patient was hospitalized, and despite initial treatment with hydration and furosemide, the hypercalcemia persisted, leading to the administration of denosumab. During follow-up, hypoxia was detected, and a chest CT scan revealed mosaic attenuation and ground-glass opacities. Bronchoscopy was performed, and PCR testing confirmed the presence of Pneumocystis jirovecii. Other causes of hypercalcemia were ruled out, with PTH measured at 13.8 pg/mL (normal range 15–65 pg/mL), albumin at 3.71 g/dL, 1.25-dihydroxy vitamin D3 at 96 ng/dL (normal range 26–95 ng/dL), and 25-hydroxy vitamin D at 32.5 ng/mL (normal range 20–40 ng/mL). A PET-CT scan demonstrated no pathological FDG uptake, with the exception of findings suggestive of a pulmonary infection. Following treatment with trimethoprim-sulfamethoxazole and denosumab, the patient’s hypercalcemia and infection resolved.Conclusions Although rare, PJP can present with hypercalcemia and kidney injury in allogeneic stem cell transplant recipients. Early diagnosis and treatment can improve both PJP and hypercalcemia.

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.

Occult Pneumomediastinum - An Atypical Presentation of Chest Discomfort in a Patient with Depression

Pneumomediastinum (mediastinal emphysema) is an uncommon condition characterized by the accumulation of air or gas in the mediastinum. Here is a case of a 16-year-old female known to have depression who presented to the emergency department with complaints of shortness of breath, restlessness, chest discomfort, and hoarseness of voice for 2 days. She was initially diagnosed with panic attack, and later on clinical examination, surgical emphysema over the right supraclavicular area was noticed. Chest X-ray was found to be normal, and further imaging with high-resolution computed tomography (HRCT) of the thorax showed pneumomediastinum. In this report, the clinical presentations, radiological features, and management of pneumomediastinum will be discussed.

Crossed Wernicke’s Aphasia With Focal Clonic Cluster Seizures With Secondary Generalization Mimicking Faciobrachial Seizures Following a Right Middle-Cerebral-Artery Ischemic Stroke: A Novel Phenotypic Presentation

Crossed Wernicke’s aphasia (CWA) following a stroke is a rare clinical phenomenon, particularly when associated with seizures. This case report presents a unique instance of crossed CWA accompanied by focal clonic cluster seizures affecting the left arm and face, with secondary generalization, in a monolingual Bengali-speaking patient following a right middle cerebral artery ischemic stroke. The patient, a 70-year-old male from rural India, presented with acute behavioral abnormalities and language impairment. He experienced left-sided focal motor-onset clonic seizures with impaired awareness, followed by fluent yet unintelligible speech, characterized by phonemic and semantic paraphasias, as well as neologistic jargon. Neuroimaging revealed a right parieto-occipital infarct. Although initially misdiagnosed and treated for acute psychosis, thorough clinical evaluation ultimately led to the diagnosis of CWA—a rare form of aphasia in a right-handed individual after a right hemisphere stroke. This case underscores the diagnostic challenges associated with stroke-related language disorders and highlights the importance of recognizing variations in language lateralization. Furthermore, the occurrence of CWA in a Bengali-speaking individual emphasizes the potential impact of linguistic and cultural factors on brain organization and language processing. This case also adds to the limited body of literature regarding the co-occurrence of post-stroke seizures and aphasia, particularly in atypical presentations such as CWA.

Case Report: An exceptional localisation in the thigh of a giant primary subcutaneous hydatid cyst.

Hydatid disease is a zoonotic disease caused by the larval stage of Echinococcus granulosus and is found globally. Although the liver and lungs are the most prevalent sites of involvement, sub-cutaneous hydatid cysts are rare especially in the primary occurrence. Sub-cutaneous hydatid cysts usually are noticed as slow growing, painless, and mobile masses beneath the overlying skin which is usually normal and are generally found on the trunk and proximal extremities. To the best of our knowledge, very few cases of primary subcutaneous hydatid cysts of the thigh have been documented. We present a case of a 30-year-old woman from a rural setting, who has a large, painless swelling on her thigh. Imaging studies confirmed the presence of a primary subcutaneous hydatid cyst, which is an atypical presentation of the disease. The entire lesion was excised surgically without any evidence of recurrence for a long period postoperatively. This case illustrates the difficulty in establishing a diagnosis and the importance of early surgical management in these cases.

Pure Biclonal Hairy Cell Leukemia–Apt Diagnosis with Multicolor Flow Cytometry

Hairy cell leukemia (HCL) is a rare B-cell neoplasm that constitutes around 2 percent of all lymphoid leukemias and occurs more frequently in elderly males. The usual triad of HCL includes pancytopenia, splenomegaly, and hairy cells in the bone marrow. This is a case of an atypical presentation of biclonal HCL diagnosed on flow cytometry; the existence of biclonal HCL is extremely rare with very few case reports. Pure biclonal HCL should be regarded as an extraordinary finding among the so-called composite lymphomas.

Meckel's diverticulum: A challenging diagnosis

AbstractObjectivesThis single‐center, cross‐sectional study aims to elucidate the clinical presentation, diagnostic evaluation, and outcomes in a subset of pediatric patients with atypical and/or challenging presentations of Meckel's diverticulum.MethodsWe conducted a single‐center cross‐sectional study on children diagnosed with Meckel's diverticulum at Children's Health in Dallas, Texas between 2010 and 2022. We identified 11 patients aged 0–17‐years‐old with confirmed Meckel's diverticulum who presented with atypical symptoms and/or a challenging diagnostic course. Patient demographics, symptoms at presentation, diagnostic workup, time to diagnosis, management, and outcomes were collected. Descriptive statistics were utilized.ResultsEleven patients (n = 8, 73% male) were included in the study with an average age of 10.5 years (range: 1–17 years). The mean time interval from initial presentation of symptoms to diagnosis was 8 months (range: 0–33 months). Barriers to diagnosis of Meckel's diverticulum identified in our study included atypical presentations, negative or nonconfirmatory Meckel scan results, negative surgical findings, and competing differential diagnoses.ConclusionMeckel's diverticulum is a challenging diagnosis and should be considered even if initial evaluation is negative as certain patients exhibit atypical presentations that necessitate surgical intervention for diagnosis.