Uncommon Cause Research Articles

AN UNCOMMON CASE OF SUPERIOR VENA CAVA SYNDROME FOLLOWING CARDIAC SURGERY

Abstract Superior vena cava (SVC) syndrome (SVCS) is due to the obstruction of the SVC leading to swelling of the upper body and to low cardiac output. Non tumoral causes, mainly thrombosis of endovascular devices, account for 30% of cases. We report a case of acute iatrogenic SVCS. A 7 years old 16 kg boy underwent mitral valve surgery in severe rheumatic mitral regurgitation. After induction a 15 cm 5.5 Fr 3 lumens central venous catheter (CVC) was inserted in the right internal jugular vein (IJV) under ultrasound guidance without issues. After achieving proper anticoagulation ascending aorta (18 Fr) and bicaval cannulation were performed (20 Fr single stage cannula with right–angled metal tip in the SVC and 26 Fr single stage cannula in the inferior vena cava). Cardiopulmonary bypass (CPB) was performed with pediatric circuit and the mitral valve was repaired. Despite apparently good result of the repair and uneventful weaning from CPB a more accurate transesophageal echo (TEE) showed moderate iatrogenic mitral stenosis. Cannulation was re–performed with same size cannulas and mitral valve replacement (St.Jude 25 mm) was provided. After weaning from CPB with mild cardiovascular support (adrenaline 0.03 mcg/kg/min and noradrenaline 0.05 mcg/kg/min) the TEE showed no abnormalities and the patient was transferred to the ICU in stable conditions. The central venous pressure (CVP) never raised over 10 mmHg. In the ICU the patient developed sinus tachicardia and hypotension, unresponsive to fluids and vasopressors, and swelling of the face with no increase in CVP. The chest Xray showed enlargement of the right upper mediastinum with TEE evidence of accellerated flow in the SVC around the CVC (fig.1). The patient was taken to the operating room and a too tigh pursue string suture was found on the SVC. After optimization of the suture the flow through the SVC was restored with immediate clinical improvement and de–escalation of the cardiovascular support. The face oedema quickly decreased allowing extubation on the day after surgery. The following course was uneventful. SVCS is a life threatening complication of cardiac surgery. A too tight pledgetted pursue–string suture is an uncommon cause compared to clot compression. The CVP measured by a IJV CVC is generally elevated in SVCS, but in our case the tip of the CVC was downstream to the stenosis so showing normal values. Multimodal monitoring is mandatory to lead to emergency surgical treatment in case of need.

Primary omental infarction- a benign cause of acute abdomen.

Omental infarction (OI) is an uncommon cause of acute abdominal pain. A high index of clinical suspicion is required for diagnosis of OI as the incidence is less than 1 %, presenting with abdominal pain. We report primary OI's clinical and radiological profile from a single tertiary care hospital in India. In this retrospective cross-sectional study, the electronic medical and radiology records of patients withabdominal pain were reviewed over seven years (2015-2022). Variables were systematically collected and analyzed. A total of 22 patients diagnosed with primary OI were included in this study. Male preponderance (63.6 %) was noted with a mean age of 47.45 years (SD±13.84; range: 18-72 years). Most patients belonged to class I obesity (according to the Asia-Pacific body mass index classification) with a mean BMI of 26.56 kg/m2 (SD±3.21 kg/m2). All patients had abdominal pain as the primary symptom, with a mean duration of 8.64days (SD±10.15; range: 1-42days). The most common locations of pain were the right hypochondrium (27.3 %) and diffuse (27.3 %), followed by the right iliac fossa (18.1 %). Most (95.45 %, n=21/22) patients were treated conservatively, and only one required surgical intervention. Primary OI is a rare and benign cause of acute abdomen. Obesity is a risk factor but does not correlate with the size or severity of OI. Radiological imaging, like a computed tomography (CT) scan, is essential for diagnosis. Aconservative management line should be the first approach in treating primary OI before considering surgical options.

A rare case of spontaneous spinal epidural hematoma with spontaneous resolution

Spontaneous spinal epidural hematoma (SSEH) is an uncommon cause of acute spinal cord compression. It is a neurological emergency that requires urgent imaging and appropriate treatment to prevent permanent neurological sequelae. Here, we present the case of a 30-year-old male with no known comorbidities who presented to the emergency department with a history of sudden onset of upper backache and chest discomfort followed by bilateral lower limb weakness. On examination, the blood pressure was 220/120 mmHg, and neurological examination showed decreased tone and power of 2/5 in bilateral lower limbs. In view of the initial chest discomfort, a cardiac evaluation was done, which was normal, followed by magnetic resonance imaging of the whole spine, which showed a lesion in the anterior epidural space suggestive of hematoma, causing spinal cord compression. A final diagnosis was C6-T2 dorsal SSEH secondary to a hypertensive emergency.

An uncommon cause of high gonadotropins and testosterone in a 53-year-old male

An uncommon cause of high gonadotropins and testosterone in a 53-year-old male

An Uncommon Cause of Pleural Effusion – Part 2

Abstract An uncommon cause of pleural effusion is discussed for the benefit of postgraduate students.

Outcomes of Head and Neck Neurogenic Tumors.

Lateral neck mass managementfrequently challenges surgeons. Nerve tissue neoplasmsare an uncommon cause of such nodules. Neurogenic tumors form a tiny percentage of the head and neck neoplastic lesions. Considering the number of nerves in this area, it is surprising that such neoplasms are not more frequently seen. A retrospective study was conducted on all patients who presented to the National Cancer Institute of Cairo, Egypt, with head and neck neurogenic neoplasms. During the last 10 years at the National Cancer Institute of Egypt (2006-2015), 40 cases of neurogenic tumors of the head and neck were treated atthe head and neck unit. Patients' ages ranged from two to 78 years with a mean age of 34.7 years. Childhood neurogenic tumors accounted for nine cases (22.5%) only in this study. Male patients diagnosed with these tumors comprised 16 cases, while female patients comprised 24 cases, with a female-to-male ratio of 1.5:1. Patient presentation depends on the biological behavior of the tumor; for instance, some of them present by slowly growing painless well-circumscribed mobile swelling, and others present by rapidly growing swelling with neurological deficit. Clinical picture and imaging studies such as CT and MRI raise suspicion andmay help delineatesuch tumors, but a definitive diagnosis is obtained by tissue biopsy. Surgery is the mainstay of treatment in most head and neck neurogenic tumors, whereas adjuvant therapy is of limited benefit in some types of neurogenic tumors.The five-year survival rate was60%for the malignant group, while death was reported in six out of 15 cases (40%). Conclusion: Most neurogenic head and neck tumorsare benign.Accurate preoperative assessment and a high degree of suspicion are the initial steps in the management. Proper treatment involves complete surgical excision; however, debulking procedures have an important role. Malignant neurogenic tumorsare aggressive and are treated with combined radical surgical resection and radiation. Chemotherapy is tried for locally advanced unresectable or metastatic disease.

Chronic myeloid leukemia presenting with disc edema: A case report

The aim is to report a case of chronic myeloid leukemia (CML) in a 20-year-old female who initially presented with bilateral optic disc edema and headaches, and to raise awareness of uncommon causes of disc edema that could potentially be life-threatening. The patient first presented in June 2022 with blurry vision in the left eye, headache, and neck pain of 6 months duration. Initial examination revealed a young woman in no acute distress, with a blood pressure of 100/60 mm Hg and a body mass index of 26.98. Her pinhole visual acuity was 6/9 in both eyes, extraocular motility was full bilaterally, and both pupils were briskly reactive. However, she had bilateral optic disc edema. Both brain and orbital magnetic resonance imaging (MRI) revealed normal findings. Serological tests for syphilis and human immunodeficiency virus were negative. Based on these and the clinical features, an initial diagnosis of idiopathic intracranial hypertension was made, and the patient was started on acetazolamide tablets. She was followed up for approximately 1 year without resolution of symptoms. At a follow-up visit in December 2023, she was found to have developed dilated tortuous vessels with discrete retinal lesions. A peripheral blood film result showed that the patient had CML. In conclusion, a high index of suspicion should be entertained when managing a patient with unexplained bilateral disc swelling with normal brain MRI study. A complete blood workup, including a peripheral blood film, should be included as a part of the routine investigation of these patients so that diagnosis and treatment could be instituted early.

Intersex Pretenders.

False claims of having an intersex condition have been observed in print, video, Internet media, and in live presentations. Claims of being intersexed in publicly accessible media were examined and evidence that they were false was considered sufficiently conclusive in 37 cases. Falsity was most often detected due to medical implausibility and/or inconsistency, but sometimes also using information from third-party or published sources. The majority, 26/37, of cases were natal males; 11/37 were natal females. Almost all (34/37) were transgendered, living, or aspiring to live, in their non-natal sex or as socially intergender. The most commonly claimed diagnosis was ovotesticular disorder ("true hermaphroditism") due to chimerism, an actually uncommon cause of authentic intersexuality. Motivations for pretending to be intersexed were inferred from statements and behaviors and were varied. Some such pretenders appear to be avoiding the external or internalized stigma of an actual transgendered condition. Some appear, similarly to persons with factitious disorder, to be seeking attention and/or the role of a sick, disadvantaged, or victimized person. Some showed evidence of paraphilia, most frequently autogynephilia, and, in several cases, paraphilic diaperism. For some cases, such claims had been accepted as authentic by journalists or social scientists and repeated as true in published material.

An Uncommon Cause of Chest Pain from Tarlov Cysts

Tarlov cysts are often regarded as an incidental finding found on imaging as most patients are asymptomatic. However, Tarlov cysts can be symptomatic or increase in size over time to cause symptoms. We present a case of an uncommon cause of chest pain in a patient with Marfan syndrome who underwent extensive investigations before being diagnosed with radicular chest pain from Tarlov cysts at the thoracic level. Decompression of Tarlov cysts resulted in resolution of his chronic devastating chest pain.

Uncommon Causes of Interlobular Septal Thickening on CT Images and Their Distinguishing Features.

Interlobular septa thickening (ILST) is a common and easily recognized feature on computed tomography (CT) images in many lung disorders. ILST thickening can be smooth (most common), nodular, or irregular. Smooth ILST can be seen in pulmonary edema, pulmonary alveolar proteinosis, and lymphangitic spread of tumors. Nodular ILST can be seen in the lymphangitic spread of tumors, sarcoidosis, and silicosis. Irregular ILST is a finding suggestive of interstitial fibrosis, which is a common finding in fibrotic lung diseases, including sarcoidosis and usual interstitial pneumonia. Pulmonary edema and lymphangitic spread of tumors are the commonly encountered causes of ILST. It is important to narrow down the differential diagnosis as much as possible by assessing the appearance and distribution of ILST, as well as other pulmonary and extrapulmonary findings. This review will focus on the CT characterization of the secondary pulmonary lobule and ILST. Various uncommon causes of ILST will be discussed, including infections, interstitial pneumonia, depositional/infiltrative conditions, inhalational disorders, malignancies, congenital/inherited conditions, and iatrogenic causes. Awareness of the imaging appearance and various causes of ILST allows for a systematic approach, which is important for a timely diagnosis. This study highlights the importance of a structured approach to CT scan analysis that considers ILST characteristics, associated findings, and differential diagnostic considerations to facilitate accurate diagnoses.

Gallstone Ileus as an Infrequent Cause of Bowel Obstruction: A Review of Small Cohort.

Introduction Gallstone ileus is an uncommon cause of small bowel obstruction; it is a rare complication of calculus chronic cholecystitis which leads to cholecystoenteric fistula and impaction of gallstone in the gastrointestinal tract leading to mechanical bowel obstruction. Our aim is to report the natural history and management of this rare condition in a teaching hospital. Materials and methods It is a retrospective study, where 10 years of data related to the management of intestinal obstruction secondary to gallstone ileus was collected. The cohort included 10 patients, whose demographic data, clinical findings, and management outcomes were evaluated. Results Majority of patients were female (90%, n=9) with a median of 83 years (range 61-96) although 90% of the population were above 70 years. Presenting complaints were mostly pain and vomiting. The onset of symptoms was between two and seven days.The site of obstruction was mostly the ileum (n=9) with the exception of one case in the sigmoid proximal to a benign stricture, and the size of the stone ranged from 2.5 to 4 cm. Moreover, most of the patients had a previous history of gallstone (n=7) with one post-cholecystectomy status. The laboratory investigations in 50% of patients had deranged liver function test (LFT) and acute kidney injury (AKI), and 60% had raised inflammatory markers, namely, white blood cells (WBC) and C-reactive protein (CRP). Intervention as enterolithotomy was the preferred approach (n=8 (two laparoscopic, six open surgery)), and two patients were managed conservatively. The mean postoperative length of stay was 10 days in the open approach and five days in the laparoscopic approach, respectively. Conclusions Elderly female patients are more prone to have gallstone ileus particularly with a past medical history of gallstones, and the preferred management option is enterolithotomy which could be open or laparoscopic depending on the expertise of the surgeon.

Radiographic and Advanced Imaging Evaluation of Posterior Shoulder Instability.

Posterior shoulder instability is an uncommon but important cause of shoulder dysfunction and pain which may occur as the result of seizure, high energy trauma, or repetitive stress related to occupational or sport-specific activities. This current review details the imaging approach to the patient with posterior shoulder instability and describes commonly associated soft tissue and bony pathologies identified by radiographs, CT, and MR imaging. Advances in MR imaging technology and techniques allow for more accurate evaluation of bone and soft tissue pathology associated with posterior shoulder instability while sparing patients exposure to radiation. Imaging can contribute significantly to the clinical management of patients with posterior shoulder instability by demonstrating the extent of associated injuries and identifying predisposing anatomic conditions. Radiologic evaluation should be guided by clinical history and physical examination, beginning with radiographs followed by CT and/or MRI for assessment of osseous and soft tissue pathology. Synthesis of a patient's clinical history, physical exam findings, and radiologic examinations should guide clinical management.

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

BackgroundKnobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.Case presentationBoth cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis.ConclusionsThe report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.

Electroretinography in congenital nystagmus patients with a normal fundus examination.

To identify the ophthalmic causes of congenital nystagmus with normal eye examination by electroretinography (ERG). Retrospective observational study. We reviewed the medical records of patients younger than 6months of age who presented between June 2008 and November 2011 with nystagmus and no other neurological signs following an otherwise normal eye examination. A complete ophthalmic examination and ERG (Nicolet Bravo system; Nicolet Biomedial & RETIscan; Roland Instruments), fundus photography, and Ishihara color test were performed to identify any ophthalmic causes of congenital nystagmus. Thirty-three patients met the criteria. Rod dysfunction was diagnosed in 4 patients (12.1%), cone dysfunction in 2 patients (6.1%), and cone-rod dysfunction in 1 patient (3.0%). The results of ERG were negative in 2 patients (6.1%). Idiopathic infantile nystagmus was diagnosed in the remaining 24 patients (72.7%) based on their normal ERG examination. In Korean congenital nystagmus patients with a normal fundus examination, achromatopsia and Leber's congenital amaurosis are uncommon causes. ERG is needed to make a definite diagnosis and provide prognostic information in congenital idiopathic nystagmus patients with a normal fundus examination.

Clinical and epidemiological characterization of eosinophilic ascites in Egypt: a single center experience

Background & aimsEosinophilic ascites is non-common and challenging disease. This study aimed to describe the clinical presentation and treatment of eosinophilic ascites.MethodsThis was a prospective single-center study that included cases with eosinophilic ascites who were admitted to Tropical Medicine and Gastroenterology Department, Assiut University Hospital, Assiut, Egypt, during the period between May 2020 to May 2023. The clinical presentation, investigations, treatment, and follow-up data of the included patients were collected and analyzed.ResultsSeventeen cases of eosinophilic ascites were included in the study. The main presenting manifestations were abdominal pain (47.1%), and abdominal pain with distension (29.4%). Two patients presented with a picture of intestinal obstruction. Moderate ascites was found in 10 patients (58.8%) by ultrasound. Eosinophilia in the peripheral hemogram was detected in 76.5% of the study population. Endoscopic examination showed gastro-duodenitis in 9 patients (52.9%) and duodenitis in 4 patients (23.5%). All patients showed complete improvement and disappearance of ascites after starting steroids within two weeks. Eleven patients (64.7%) relapsed after discontinuation of steroids.ConclusionEosinophilic ascites is an uncommon cause of ascites that is often underdiagnosed. The relapse rate after stopping treatment is high but with excellent response to retreatment.

Sigmoid volvulus as a rare cause of intestinal obstruction in the pediatric population: case series and literature review

Introduction: Sigmoid volvulus is an uncommon cause of intestinal obstruction in the pediatric population. This pathology is associated with intestinal malrotation and sometimes with the presence of internal hernias. The clinical presentation includes pain, abdominal distension, and emesis; however, sometimes patients report nonspecific chronic symptoms. Among the diagnostic tools commonly used in children are radiography and abdominal tomography. There are multiple treatment strategies ranging from endoscopic to surgical procedures including resection with stoma creation. Timely diagnosis is crucial given the increased morbidity and mortality resulting from intestinal ischemia and perforation. Methods: A review of the medical records of the patients with a diagnosis of sigmoid volvulus treated by pediatric surgeons of the institution and led to devolvulation and subsequent sigmoidectomy presented below was carried out. Likewise, a literature search was carried out in electronic databases, using two equations using terms selected from ‘Medical Subject Heading’ (MeSH) and ‘Descriptors in Health Sciences’ (DeCS). The quality of the studies was evaluated with the STROBE (Strengthening the Reporting of Observational Studies in Epidemiology) tool for the construction of the manuscript. Results: Upon continuation, the experience of six patients between the ages of 5 and 17 with a diagnosis of sigmoid volvulus between the years 2021 and 2023 is presented. These patients were taken to initial decompression by different approaches and in a second surgical stage to sigmoidectomy, most of them with anastomosis. All patients had an adequate postoperative evolution without complications. Conclusion: Sigmoid volvulus is a rare condition in pediatrics with a variable and sometimes nonspecific clinical presentation; however, given the increased morbidity and mortality resulting from a delay in diagnosis, it is important to consider the clinical, paraclinical, and radiological findings that allow early identification as a cause of intestinal obstruction.

Polyethylene glycol hypersensitivity, patient outcomes in a 7-year retrospective study

BackgroundImmediate IgE-mediated hypersensitivity reactions to polyethylene glycol (PEG) are rare. Our understanding of PEG hypersensitivity is limited. ObjectiveTo evaluate the clinical characteristics and investigation outcomes of the largest cohort of patients with PEG allergy reported. MethodsA total of 44 patients investigated for suspected PEG allergy across 4 United Kingdom tertiary allergy centers between October 2013 and December 2020 were studied. Clinical characteristics, index reaction, and approaches to and outcomes of allergy investigations were analyzed. ResultsPEG hypersensitivity was confirmed in 42 of 44 cases. Macrogol laxatives were the most common index drugs reported (23%), followed by depo-medroxyprogesterone (19%), oral penicillin V (10%), and depo-methylprednisolone (10%). In general, 61% experienced grade III anaphylaxis. Intradermal testing (IDT) increased the diagnostic sensitivity from 51% to 85%. Five patients experienced systemic reactions during IDT. Of the 5 patients, 2 were skin prick test positive to a high molecular weight PEG. Three patients with negative skin test results had positive drug provocation test results. Seven patients with PEG allergy reported tolerance to H1-antihistamines containing PEG. Administration of messenger RNA COVID-19 or Oxford/AstraZeneca COVID-19 vaccines was tolerated in all 16 patients to whom they were administered. ConclusionPEG hypersensitivity is an uncommon cause of drug-induced anaphylaxis. Four index drugs accounted for two-thirds of the cases, and reactions to these drugs should prompt PEG hypersensitivity investigations. PEG IDT increases diagnostic yield. The role of skin prick test with higher molecular weight PEGs requires further attention. Further studies are required to understand PEG thresholds and PEG equivalent doses of various administration routes. COVID-19 vaccines were tolerated by all exposed.

Scedosporiosis and lomentosporiosis: modern perspectives on these difficult-to-treat rare mold infections.

SUMMARYAlthough Scedosporium species and Lomentospora prolificans are uncommon causes of invasive fungal diseases (IFDs), these infections are associated with high mortality and are costly to treat with a limited armamentarium of antifungal drugs. In light of recent advances, including in the area of new antifungals, the present review provides a timely and updated overview of these IFDs, with a focus on the taxonomy, clinical epidemiology, pathogenesis and host immune response, disease manifestations, diagnosis, antifungal susceptibility, and treatment. An expansion of hosts at risk for these difficult-to-treat infections has emerged over the last two decades given the increased use of, and broader population treated with, immunomodulatory and targeted molecular agents as well as wider adoption of antifungal prophylaxis. Clinical presentations differ not only between genera but also across the different Scedosporium species. L. prolificans is intrinsically resistant to most currently available antifungal agents, and the prognosis of immunocompromised patients with lomentosporiosis is poor. Development of, and improved access to, diagnostic modalities for early detection of these rare mold infections is paramount for timely targeted antifungal therapy and surgery if indicated. New antifungal agents (e.g., olorofim, fosmanogepix) with novel mechanisms of action and less cross-resistance to existing classes, availability of formulations for oral administration, and fewer drug-drug interactions are now in late-stage clinical trials, and soon, could extend options to treat scedosporiosis/lomentosporiosis. Much work remains to increase our understanding of these infections, especially in the pediatric setting. Knowledge gaps for future research are highlighted in the review.

Giant Left Atrial Myxoma Revealed by Neurological Manifestation in a Young Female Patient

Cardiac myxoma is a prevalent benign neoplasm that arises inside the cardiac tissue and exhibits a gradual growth pattern. The annual incidence rate of cardiac myxoma is approximately 0.5–1 cases per 1,000,000 persons. The fragmentation of a cardiac tumor may be influenced by cerebrovascular events. Ischemic stroke is a relatively infrequent occurrence in pediatric populations and can occasionally be attributed to cardiac myxoma. In instances of ischemic stroke, neurological impairments are observed as a result of emboli or thrombi originating from the myxoma. Echocardiography is a valuable tool for promptly diagnosing myxoma and facilitating immediate surgical removal of the myxoma. We report a 17 years old female with neurological deficit weakness in the upper and lower right extremities since 2 months ago as the chief complaint with intermittent shortness of breath. Haemodynamic parameters was stable. The patient underwent brain imaging with result a lesion of the left lentiform nucleus, transthoracic echocardiography and trans esophageal echocardiography with oscillating septated mass on left atrial, attached to the anterior mitral leaflet (AML). Primary cardiac tumors are a very uncommon cause of cardiac embolic events. An atrial myxoma, a benign growth, can form on either the left or right side of the upper part of the heart. Untreated atrial myxoma can lead to adverse effects such as arrhythmia, pulmonary edema, and emboli formation that obstruct blood flow in the heart's veins. Ischemic stroke causes a specific functional impairment. Neurological symptoms in stroke can be an extra cardiac manifestation of atrial myxoma. The use of transthoracic and tran seso phageal is important in diagnosing atrial myxoma.

Ruptured Ovarian Artery Aneurysm in a Postmenopausal Female: Case Report.

Ovarian artery aneurysm is a rare diagnosis, primarily associated with late pregnancy and the postpartum period. It can cause life-threatening hemorrhage when ruptured. Even more rare are ovarian artery aneurysms in postmenopausal women. We present a case of a postmenopausal female presenting to the emergency department with flank pain. Point-of-care ultrasound showed free fluid in the abdomen. She was diagnosed with an ovarian artery aneurysm on computed tomography angiography and treated successfully with embolization. Ruptured ovarian artery aneurysm is an uncommon cause of intra-abdominal hemorrhage in women.