Uncommon Etiology Research Articles

Mixed Connective Tissue Disease Presenting as Diabetic Ulcer in a 52 Year Old Female Patient: A Case Report

Mixed connective tissue disease (MCTD) is a rare and complex autoimmune condition characterized by overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis, polymyositis/dermatomyositis, and rheumatoid arthritis. Due to the varied clinical presentation and the absence of validated classification criteria, early diagnosis can be challenging, often leading to misclassification or delayed recognition. Here, we report a case of a 52-year-old female with MCTD and vasculitis, underscoring the importance of considering uncommon autoimmune etiologies in patients with non-healing ulcers. The patient presented with skin tightening, Raynaud’s phenomenon, and chronic non-healing ulcers, initially attributed to diabetic complications. Diagnostic evaluation revealed high-titre anti-U1-RNP antibodies, confirming MCTD. Treatment with oral steroids, cyclophosphamide, and sildenafil led to significant clinical improvement, particularly in ulcer resolution. This case emphasizes the critical need for early intervention and a multidisciplinary approach in managing autoimmune vasculitis associated with MCTD to prevent progression and optimize patient outcomes.

Abstract 4138449: High Output Heart Failure from an Aortocaval Fistula

Introduction: High output heart failure (HOHF) due to a post-traumatic aortocaval fistula is a rare entity. This case seeks to explore the presentation as well as complexities of management of these patients. Case Presentation: A 50-year-old male with a prior right abdominal stab wound requiring exploratory laparotomy 20 years ago presented with worsening dyspnea on exertion and palpitations. Physical examination was remarkable for jugular venous distention, lower extremity edema, and a pulsatile mass in the right abdomen with an audible bruit. A 12-lead ECG showed rapid atrial flutter. A transthoracic echocardiogram (TTE) showed a reduced left ventricular ejection fraction (LVEF) of 30-35%, severely dilated atria and inferior vena cava (IVC) with high velocity flow. Abdominal computed tomography venogram showed dilation of the IVC up to 8cm and an aortocaval fistula at the level of the right renal vessels, resulting in an atrophic right kidney. Cardiac catheterization was notable for a cardiac output (CO) of 12L/min, cardiac index (CI) of 7L/min/m2 and reduced systemic vascular resistance (SVR). He was managed with beta blockers and diuretics, followed by TEE-guided cardioversion for atrial flutter to restore sinus rhythm. Vascular surgery performed a successful, first of its kind endovascular repair of the abdominal aorta with stenting of the right common iliac artery and placement of a 20mm Amplatzer Septal Occluder device in the right renal artery. He tolerated the procedure well, and post-operative TTE showed a recovered LVEF of 55-60% and CO of 6L/min. Discussion: HOHF is defined by a CO more than 8L/min or CI more than 4L/min/m2 along with clinical symptoms. Decreased SVR leads to sympathetic activation and stimulation of the renin-angiotensin-aldosterone system, leading to fluid retention, cardiac remodeling, and exacerbation of symptoms. Challenges present in the management of HOHF and the use of vasodilatory agents should be avoided, as they can exacerbate the problem. In our case, limitations were also faced in the use of many traditional HF therapies due to renal dysfunction as a result of the fistula. Therefore, repair was the only viable long-term solution. Conclusion: This case displays an uncommon etiology of HOHF, emphasizing the need for meticulous evaluation to ensure proper management. Early detection of aortocaval fistulas is crucial to prevent worsening cardiac dysfunction, with symptoms resolving rapidly post-repair.

Obstructive hydrocephalus of uncommon etiology: case report and neurosurgical management of aqueductal web presenting in adolescence

IntroductionAqueductal webs are a rare cause of obstructive hydrocephalus. Accurate diagnosis and intervention can prevent neurological complications.Case presentationHerein, we describe a case of a child presenting with headaches and vomiting. Magnetic resonance imaging (MRI) revealed obstructive tri-ventricular hydrocephalus caused by an aqueductal web. Endoscopic third ventriculostomy (ETV) was successfully performed to restore cerebrospinal fluid (CSF) flow.ConclusionThis case underscores the importance of phase-contrast and T2-weighted cinematic magnetic resonance imaging of cerebrospinal fluid flow for diagnosis of aqueductal webs. These modalities provide valuable insights into CSF dynamics and guidance of appropriate neurosurgical intervention.

Late Subluxation of Intraocular Lens Due to Haptic-Optic Adhesion

This case report describes a rare instance of late subluxation of an Intraocular Lens (IOL) resulting from adhesion between the haptic and optic components. Intraocular lens subluxation is typically associated with zonular weakness, trauma or capsular bag contracture; however, this case underscores an uncommon etiology related to adhesion between the haptic tip and the optic in a one piece hydrophobic acrylic IOL. This report highlights the clinical presentation, surgical management and implications for patient care, contributing to the understanding of long-term complications in cataract surgery.

Obstructive Shock in Acute Vena Cava Filter Thrombosis: A Rare Presentation.

Inferior vena cava (IVC) filters are commonly placed to prevent the development or worsening of pulmonary emboli. They are also inherently thrombogenic. Here we discuss a case of acute IVC filter thrombosis with the unusual presentation of obstructive shock resulting in death. A man, age 70 years, underwent laminectomy for multilevel spinal stenosis. An IVC filter was placed preoperatively for acute calf deep vein thrombosis (DVT). On postoperative day 4 he developed tachycardia, hypotension, and signs of lower extremity arterial insufficiency. No lower extremity swelling was noted. Imaging showed complete IVC occlusion caudal to the IVC filter with extension to bilateral iliofemoral veins. Arterial flow was preserved. Therapeutic heparinization was initiated and urgent percutaneous thrombectomy was performed. However, the patient developed multi-organ failure and died shortly thereafter. This report describes an uncommon etiology of obstructive shock and highlights a potentially life-threatening thrombotic complication associated with IVC filters that clinicians should be vigilant about.

Incarcerated Intestine by Testicular Mass in Huge Scrotum: A Case Report

Large testicular tumor is not a commonly seen entity in the modern era. While treatment of large testicular tumors is via inguinal radical orchiectomy, large testicular tumors carry the dilemma of delivering these large masses via the inguinal or scrotal approach. Our case was a 90 years old man with obstruction signs and huge scrotum that shows incarcerated large bowel with huge testicular mass, that in his surgery we did Radical Orchiectomy and we replace incarcerated Large Bowel in scrotum and discharge him successfully. Giant testicular cancer is considered one of the largest testicular masses in the world. Delayed seeking medical advice and appropriate management is the major cause behind this rare presentation. Increasing the awareness regarding self-examination and eliminating the stigma is the cornerstone to markedly reduce this type of unusual presentation since any testicular size change and mass can be easily noted by the patient. Surgical exploration and adjuvant chemotherapy seems as a reasonable treatment option in the setting of bilateral intra-abdominal testis tumor in an adult patient. The study underscores the effectiveness of the intervention in promoting preventive behaviours against testicular cancer among university students, laying the groundwork for future educational initiatives. Although testicular cancer (TC) is the most common malignancy in males between the ages of 18 and 50 years, little effort has been made to increase public awareness about TC and testicular self-examinations (TSEs). Intestinal obstruction without a past surgical history of abdominal surgeries or trauma is a rare and challenging clinical situation. This case report describes the presentation, diagnosis, and management of intestinal obstruction in a patient with an uncommon aetiology of small bowel obstruction. Chronic hernia incarceration can lead to weakening and ischemia of the bowel, and minimal trauma can lead to perforation of the weakened segment. In such presentations, bowel resection and repair of the defect with a biological material is safe and feasible.

Acetaminopheninduced high anion gap metabolic acidosis: a potentially under-recognized consequence from a common medication.

While metabolic acidosis is one of the most common complications in patients with chronic kidney disease (CKD), there are several uncommon etiologies that are challenging to diagnose. Here, we describe a patient on peritoneal dialysis who developed high anion gap metabolic acidosis secondary to acquired 5-oxoprolinemia from acetaminophen use. While CKD is a known risk factor for developing this potentially serious complication, this case further highlights how 5-oxoproline accumulation can occur, even with therapeutic dosing of acetaminophen.

Tuberculosis Osteomyelitis of the Wrist.

Wrist Mycobacterium tuberculosis (TB) complex osteomyelitis is rare, with polymicrobial TB osteomyelitis even more uncommon. The authors describe an unusual case of polymicrobial TB wrist osteomyelitis. The case patient presented with a 2.5-year history of 2 insidiously growing nodules on his wrist. He underwent debridement, and tissue cultures grew methicillin-resistant Staphylococcus aureus, Enterococcus faecalis, and, later, TB complex. He was started on vancomycin, rifampin, isoniazid, pyrazinamide, and ethambutol with improvement in symptoms. This case emphasizes the importance of a broad differential and thorough workup for atypical presentations of osteomyelitis. Diagnosis of uncommon etiologies is essential for definitive treatment.

Occurrence of Pantoea agglomerans bloodstream infection in neonatal intensive care unit at tertiary hospital in Tanzania: antibiotic susceptibility profile and clinical outcome

BackgroundPantoea agglomerans (P. agglomerans) is an environmental gram-negative bacterium that rarely infects humans. P. agglomerans infections have never been reported in Tanzania. We investigated the occurrence of P. agglomerans bloodstream infections among neonates in the Intensive Care Unit (NICU) and their subsequent clinical outcome that occurred in 2019.MethodologyBlood samples were collected from neonates with sepsis. A total of 19 P. agglomerans were isolated from 17 infected neonates; two of the neonates had P. agglomerans isolated twice. A total of 14 patient files were retrieved from medical records.ResultsThe mean age of the infected neonates were 3.75 ± 7.95 days. Isolated P. agglomerans showed high sensitivity to the antibiotics particularly chloramphenicol (94.7%), piperacillin-tazobactam (94.7%) and meropenem (94.7%). The mortality rate was 71.4% with 35.7% of infected neonates dying before Antibiotic Susceptibility Test results for appropriate management. The Infection Prevention and Control (IPC) team shut the NICU for thorough decontamination which helped to stop the P. agglomerans occurrence.ConclusionsP. agglomerans occurrence at the NICU was an uncommon aetiology pathogen for neonatal sepsis associated with high rates of mortality despite high sensitivity to multiple antibiotics. This calls for the strengthening of infection control measures and introduction of surveillance for environmental pathogens capable of causing human infections.

Delving into an uncommon etiology of Mammoth ovaries

Ovarian hyperstimulation syndrome (OHSS) is an unusual clinico-radiological entity with a risk of developing life-threatening complications which have various etiologies. Radiological imaging helps image the typical features of enlarged ovaries and also helps rule out associated complications. Based on the severity of the clinical manifestations and corresponding radiological findings, grading systems have been devised as well. In this case report, we wish to highlight the features of this rare entity, that is, spontaneous OHSS, secondary to primary hypothyroidism in a young female who presented with acute abdomen.

Uncommon Causes of Nontraumatic Intracerebral Hemorrhage.

Nontraumatic intracerebral hemorrhage is an important health issue. Although common causes such as hypertension and cerebral amyloid angiopathy predominantly affect the elderly, there exists a spectrum of uncommon etiologies that contribute to the overall incidence of intracerebral hemorrhage. The identification of these rare causes is essential for targeted clinical management, informed prognostication, and strategic secondary prevention where relevant. This topical review explores the uncommon intracerebral hemorrhage causes and provides practical clues for their clinical and imaging identification. By expanding the clinician's differential diagnosis, this review aims to bridge the gap between standard intracerebral hemorrhage classification systems and the nuanced reality of clinical practice.

Diagnosis dan Tatalaksana Rinolit Pada Pasien Lansia

Introduction: Rinolits are uncommon foreign bodies in the nose, which serve as a nidus for calcium salt deposition. Foreign bodies can be endogenous or exogenous in origin and can be asymptomatic for years before being discovered incidentally. If left untreated, stones can cause unilateral nasal obstruction, rhinorrhea, epistaxis, or in rare cases, progressive damage leading to septal/palatal perforation or oro-antral fistula. Surgical stone removal is an effective intervention with rare reports of complications. Case Report: A case of rinolit in a 72-year-old woman with complaints of left nasal congestion since 2 months ago with thick, smelly snot in the past 2 weeks is reported. History of foreign entry was denied. On examination of the sinistra nasal cavity, it was found that the nasal cavity was narrow, the inferior concha was edematous, there was a yellowish mass between the inferior concha and the septum, the media concha was difficult to assess, septal deviation was present, sekret was present, mucoid. The management given was extraction using forceps under local anesthesia. Conclusion: Rinolit is an uncommon clinical etiology which if undiagnosed can lead to complications; thus it is important to consider for any unilateral nasal symptoms of unclear origin.
 
 

“Tight” nuchal cord is an uncommon but important etiology of “idiopathic” polyhydramnios: a review study

“Tight” nuchal cord is an uncommon but important etiology of “idiopathic” polyhydramnios: a review study

Late-Presenting Eosinophilic Granulomatosis with Polyangiitis as Cause of Pulmonary Fibrosis: A Case-Based Review.

Eosinophilic granulomatosis with polyangiitis (eGPA) is a necrotising vasculitis of small and medium calibre vessels, which affects mostly patients in their fourth to sixth decade of life, and it is a very uncommon aetiology for pulmonary fibrosis. A Hispanic 72-year-old female patient presents with a history of lower extremities pain, paraesthesia, oedema, and occasional macroscopic haematuria. During her hospitalisation, the patient presents, and images showed findings compatible with pulmonary fibrosis and alveolar haemorrhage, which require a biopsy, establishing the diagnosis of an eGPA. eGPA is a low-incidence autoimmune vasculitis, with a high number of phenotypes which explain the broad clinical spectrum, but recent advances has helped to understand the physiopathology and its link with other conditions like pulmonary fibrosis. Early diagnosis and management of this condition is mandatory because it is the only factor that change the outcome of the patients.

Abstract WP249: Risk for Ischemic and Hemorrhagic Stroke is Increased in Veterans Exposed to Agent Orange and Those With Myeloproliferative Neoplasms

Agent Orange (AO) is a dioxin containing defoliant and carcinogen used in the Korean and Vietnam War. There is limited evidence of the association between AO exposure among Veterans and stroke. Stroke is not yet part of the list of presumptive conditions according to the Promise to Address Comprehensive Toxics (PACT) Act which provides Veterans and their survivors disability compensation for conditions arising from exposure to AO. Myeloproliferative Neoplasms (MPN) are uncommon etiologies of stroke but whether AO exposure increases incidence of stroke in MPN has not been described. Utilizing the Veterans Affairs Informatics and Computing Infrastructure (VINCI) database, a case-control study was performed from 1/1/2006 – 1/26/2023 on the Veterans from Illinois, the state most representative of the US population. ICD-9 and -10 codes identified Veterans with stroke and MPN. AO exposure was verified on the Veterans’ service duration and location. Qualitative data were compared by chi-square tests. Among 586,555 Veterans from Illinois, there were 15,455 ischemic stroke (IS), 1,593 hemorrhagic stroke (HS), 2,752 MPN, and 59,393 with AO exposure. Among MPNs, there were 237 IS (41 with AO) and 26 HS (3 with AO). IS and HS were associated with AO exposure, OR 1.34 95% CI 1.28-1.41, p<0.0001, and OR 1.20 95% CI 1.03-1.39, p=0.02, respectively. MPN is associated with IS and HS, OR 3.52, 95% CI 3.08-4.03, and OR 3.54, 95% CI 2.4-5.23, both p<0.0001, respectively. There is no significant association with AO exposure among Veterans with MPN with stroke. Among non-MPN Veterans with AO exposure, there was an earlier median age of IS and HS, 67 vs. 70 and 67 vs. 71, both p<0.0001. There was no difference in median age of stroke among MPN Veterans with or without AO exposure. There were no differences with rates of hypertension, hyperlipidemia, diabetes, smoking, heart failure, and pulmonary hypertension among MPN Veterans with stroke with and without AO exposure. In conclusion, there is an association of AO exposure with IS and HS with an earlier onset among those exposed. There is a strong association between MPN and stroke independent of AO exposure. The biologic plausibility of endothelial dysfunction and accelerated atherosclerosis from AO exposure warrants further investigation.

Abstract TP209: Prevalence of Spontaneous Recanalization of Internal Carotid Occlusion: A Systematic Scoping Review

Introduction: Spontaneous recanalization of occluded internal carotid arteries (ICAs) is thought to be an uncommon etiology of recurrent ischemic stroke. However, there is a growing number of reports describing this phenomenon, suggesting that follow-up investigations and/or intervention may be warranted. Our objective was to perform a scoping review of the literature to estimate the prevalence of spontaneous ICA recanalization and the timing of recanalization, and to describe imaging modalities used in follow-up as well as any post-recanalization interventions. Methods: MEDLINE, Embase, Cochrane Central Register of Controlled Trials and Web of Science were searched from inception to June 2022 for studies that included adults with spontaneous recanalization or transient occlusion of the internal carotid artery. Two investigators independently screened the studies and extracted data around recanalization prevalence, timepoints, imaging, and treatment. These results were described qualitatively, and descriptive statistics were calculated where appropriate. Results: Among the 2384 studies retrieved, 51 met inclusion criteria, of which 34 were case studies and 17 were cohort studies, with a total of 816 patients. Prevalence of recanalization was reported in 20 studies (3 case studies, 17 cohort studies) at a median of 40.0% (IQR 22.5 - 40.0%) in case studies, and 21.2% (IQR 9.2 - 37.5%) in cohort studies. Forty-one studies reported a time frame for when recanalization was identified, with 53.7% individual cases in case studies and 33.3% amongst cohort studies identified within the first 3 months after occlusion. When reported, antiplatelet treatment was the most common medical treatment pre- and post-recanalization with 189 and 36 individuals, respectively. Finally, doppler imaging was used in 70.6% of studies to identify recanalization, with angiography as the next most common modality at 54.9%. Twenty studies reported an endovascular intervention. Conclusions: Spontaneous recanalization occurs more commonly than previously thought. Currently there is no consensus on what intervention is needed (if any), or when this intervention would occur. More data is needed to confirm this data and determine the best time frame to re-image.

A noteworthy rarity: fibrocalculous pancreatic diabetes as an uncommon aetiology of diabetes

No abstract available

Life-threatening upper gastrointestinal hemorrhage from a Cameron ulcer

Introduction: Acute upper gastrointestinal bleeding can be life-threatening; however, Cameron lesions are an uncommon etiology. These lesions should be suspected with a previous history or endoscopic evidence of hiatus hernia. Case Report: A male in his 60s presented to the emergency department with hematemesis and melena for two days. He had no prior medical, surgical, or endoscopic history and took no regular medications. He was resuscitated with packed red blood cell transfusion and treated with proton pump inhibitor infusion then transferred to operating theaters for endoscopic hemostasis. Cardiac arrest occurred after anesthetic induction and airway intubation, return of spontaneous circulation was achieved after cardiopulmonary resuscitation and further blood transfusion. At endoscopy a Cameron ulcer was noted in the hiatus hernia with overlying blood clot with no active hemorrhage, treated with Hemospray®. Conclusion: Patients presenting with acute upper gastrointestinal hemorrhage and shock need urgent upper gastrointestinal (UGI) endoscopy. Topical hemostatic agents are successful in controlling bleeding when challenging anatomy precludes use of banding or clip application.

Expecting the Unexpected: Schistosomial Appendicitis in Nonendemic Area

Abstract Background Schistosomiasis is a granulomatous disease prevalent in tropical and subtropical areas. Appendicitis secondary to schistosomiasis is a rarely encountered presentation, even in endemic areas. Most acute intestinal schistosomiasis presents with abdominal pain and bloody diarrhea. Other atypical clinical presentations include intestinal obstruction, peritonitis, and acute appendicitis. Case Description We report a case of a 37-year-old male from the Philippines who presented with the clinical picture of acute appendicitis and was treated with laparoscopic appendectomy. Pathological study revealed calcified Schistosomia japonicum's egg in a background of acute inflammation. Conclusion Worldwide increase in immigration and tourism resulted in an increased number of schistosomiasis in nonendemic areas. Considering this, we are faced with the uncommon etiology of acute appendicitis.

Bowel obstruction on internal hernia

Internal abdominal hernias are an uncommon etiology of intestinal obstruction. They are responsible for 0.2 to 5.8% of small bowel obstructions in published series1. Here, we report the case of a 27-year-old patient who presented to the emergency department with an occlusive syndrome. On examination, the abdomen was tympanically distended, and on imaging, the bowel was distended upstream of a thickening of the last ileal loop. The patient underwent emergency surgery, with exploration revealing an incarcerated bowel loop 40 cm from the ileocecal junction in the retrocecal fossa, indicative of an internal hernia with 4 cm of proximal bowel distension. The loop was successfully reduced and found to be viable.