Uncommon Cause Research Articles

Filariasis-Associated Secondary Membranous Nephropathy: A Rare Presentation

Parasitic infections like filariasis are uncommon causes of secondary membranous nephropathy (MN) which requires serological tests to detect circulating Wuchereria bancrofti antigens for its diagnosis or the identification of microfilariae in the capillary lumen on kidney biopsy. The immunochromatographic card tests is simple, non invasive and has high sensitivity and specificity. We report a case of 30 year old lady who presented to us with nephrotic syndrome which on kidney biopsy showed features of membranous nephropathy with negative staining for Anti PLA2R, THSD7A and exostosin. A thorough workup was done to find out any secondary cause of MN where she was found positive with filiarial antibody test. Hence, a diagnosis of secondary membranous pattern nephropathy was considered for which she was treated with diethylcarbamazine (DEC) and other supportive medications which on follow up showed marked resolution of proteinuria.

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

Intraosseous Lipoma of Calcaneus An Uncommon Cause of Heel Pain: A Case Report

Intraosseous lipoma of calcaneum is a rare cause of heel pain. Calcaneum is a typical site of involvement of IOL. There are only a few published articles regarding calcaneal intraosseous lipoma and one has been reported from Nepal. We report a case of 35 years female who presented with left heel pain for 1 year. The pain was gradually increasing in intensity and was severe enough to refrain her from activities of daily living. She was surgically operated with curettage and filling the defect with bone cement. There is no residual pain at 2.5 years follow up. We briefly review the postulated pathogenesis, clinical manifestations, diagnosis and various modalities of treatment of intraosseous lipoma. An orthopedic surgeon should have high degree of suspicion regarding the uncommon cause of heel pain and its possible management. When conservative methods do not relieve symptoms, surgical excision and filling the defect with bone cement provides long term relief.

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.

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.

Clinical Course and Outcomes of Infants with Streptococcus bovis/Streptococcus Gallolyticus subspecies pasteurianus Infection: A Systematic Review and Meta-analysis.

Streptococcus gallolyticus subspecies pasteurianus (SGP), a subtype of Streptococcus bovis, is an uncommon but important cause of neonatal sepsis. Although uncommon, SGP infections during infancy have been associated with an increased risk of morbidity and mortality. This is a systematic review and meta-analysis of available literature on the clinical course and outcomes of infants with SGP infection. Studies were identified using the following MeSH keywords: "Streptococcus gallolyticus," "Streptococcus bovis," "newborn" and "infant." Data including perinatal factors, clinical presentation, investigations, treatment and outcomes were extracted and analyzed. A total of 46 articles were identified (116 cases: 60 S. bovis, 56 SGP). The cases were predominantly term (52%), male (57%) and born via vaginal delivery (67%). The most common symptom was fever [67% (95% confidence interval (CI): 43%-84%)], lethargy [66% (95% CI: 32%-89%)], tachypnea [59% (95% CI: 27%-85%)] and irritability [59% (95% CI: 34%-79%)]. Infants with early-onset infections (<3 days of life) were more likely to have respiratory symptoms and bacteremia (73%), whereas late-onset infections presented predominantly with gastrointestinal symptoms. Four mortalities were reported which occurred before antibiotic administration. Isolated bacteria were mostly penicillin-susceptible [95% (95% CI: 78-99%)] and cases treated with penicillin derivative had good recovery. SGP is an important cause of neonatal sepsis and meningitis. Penicillin derivative is an effective treatment for SGP, and outcomes appear to be favorable.

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.

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

Introduction: 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.Case Report: 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.Conclusion: Ruptured ovarian artery aneurysm is an uncommon cause of intra-abdominal hemorrhage in women.

Bone within the endometrium: An uncommon cause of secondary infertility

Endometrial osseous metaplasia is an uncommon non-neoplastic gynecological condition, resulting in formation of mature or immature bone within the endometrial stroma. Most cases present with secondary infertility following an abortion. Although hysteroscopy is considered gold standard for the diagnosis of this rare entity, ultrasound (USG) plays an important role in its initial diagnosis. It is a challenging diagnosis due to its infrequency and similarity to other uterine pathologies. The characteristic USG appearance showing multiple bone fragments within the endometrium suggests the diagnosis. The current case report aims to highlight the role of USG in the detection and evaluation of the endometrial osseous metaplasia in patients presenting with secondary infertility.

Central Neurocytoma in a Teenager, a Rare Cause of Hemiplegia, and a Diagnostic Dilemma in a Resource-Poor Setting

Background. Central neurocytoma is a benign intraventricular neuroectodermal tumor most often arising in the lateral ventricles. Due to the location of this tumor, common signs and symptoms include obstructive hydrocephalus, recurrent headache, visual impairment, nausea, and vomiting. Central neurocytoma and intraventricular oligodendroglioma share similar gross features and cellular and architectural morphology, which may pose a diagnostic challenge in a poor resource setting. Immunohistochemical neuronal stains are useful for the two tumors in our setting. Report. An 18-year-old male patient presented with a 1-year history of right-sided weakness, recurrent seizures, and sudden loss of consciousness. The patient showed signs of increased intracranial pressure, but an antemortem CT or MRI scan could not be done to determine the underlying cause, due to lack of availability and poor prognosis of the patient at the time of presentation. An autopsy revealed a well-demarcated solid cystic, gritty intraventricular tumor causing obstructive hydrocephalus, with associated dilated ventricles and severe cerebral edema. Postmortem histopathological examination of the tumor confirmed central neurocytoma. Conclusion. Central neurocytoma (CN) is an uncommon cause of intracranial space occupying lesion (ICSOL) in the teenage age group in our setting. Central neurocytoma and intraventricular oligodendroglioma share similar radiologic and histomorphological features. Immunohistochemical evaluation with neuronal markers is essential in these two tumors, as they have different prognoses and surgical and treatment outcomes.

[Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care].

Cortico-basal degeneration is a relatively uncommon cause of degenerative parkinsonism in the elderly. From a clinical point of view, it manifests as a cortico-basal syndrome (CBS), featuring a highly asymmetrical akinetic-rigid syndrome, dystonia, myoclonus and cognitive-behavioral impairment with predominant apraxia. Other clinical phenotypes are possible, including variants with mainly language or behavioral impairment, or with axial, symmetrical parkinsonism resembling progressive supranuclear palsy (PSP). Current diagnostic criteria take into account the heterogeneity of clinical presentations. However, a diagnosis of certainty can only be reached by a pathological study, with the evidence of TAU-positive intraneuronal inclusions. Indeed SCB may be underpinned by other lesional substrates, ranging from frontotemporal degeneration to Alzheimer's disease. Symptom management must be early, multidisciplinary and adapted to the progression of the disorder. The identification of the pathological substrate is an essential prerequisite for pathophysiological therapeutic trials.

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.

Talonavicular-cuneiform arthrodesis in the management of Mueller-Weiss Syndrome: a retrospective case series.

Mueller-Weiss Syndrome (MWS), characterized by spontaneous adult-onset tarsal navicular osteonecrosis, is an uncommon cause of chronic midfoot pain that can lead to functional impairment and progressive deformities. This study aimed to present clinical and radiological outcomes of talonavicular-cuneiform (TNC) arthrodesis in the treatment of patients with MWS. A retrospective study was performed on 8 consecutive patients (6 female, 2 male; mean age = 50 years; range = 33-64) who underwent TNC arthrodesis using plate fixation with autologous bone grafting for the treatment of MWS. To evaluate clinical status, the American Orthopaedic Foot and Ankle Society (AOFAS) Ankle-Midfoot Score was performed immediately preoperatively and at the final follow-up. In radiographic evaluation, talus-first metatarsal angle (Meary's angle) was measured preoperatively and at the final follow-up. Solid fusion was also examined on postoperative radiographs and computerised tomography. The mean follow-up was 35 months (range = 24-52). The mean AOFAS improved from 37 (range = 24-53) preoperatively to 85 (range = 80-93) at the final follow-up (p < 0.001). No major intra- operative complications were observed in any of the patients. According to the Maceira and Rochera radiological staging system, 5 feet was stage 3, and 3 feet was stage 4. The mean union time was 10 months (range = 5-15). Radiographic solid fusion was achieved in all but one foot that developed talonavicular non-union. TNC arthrodesis using plate fixation with autologous bone grafting seems to be an effective surgical method for reconstruction of MWS.

Spontaneous Coronary Artery Dissection and COVID-19: A Review of the Literature.

SARS-CoV-2 is responsible for the global coronavirus disease 2019 (COVID-19) pandemic. While the cardiovascular effects of COVID-19 have been thoroughly described, there are limited published studies in the literature establishing a connection between spontaneous coronary artery dissection (SCAD) and COVID-19. Cardiovascular manifestations include, among others, myocarditis, acute myocardial infraction, and thrombosis. In general, SCAD is an uncommon and underdiagnosed cause of acute myocardial infarction (AMI), particularly in younger women and in patients with underlying fibromuscular dysplasia (FMD). Many patients with SCAD often report significant emotional stress, especially in relation with job loss, during the week preceding their cardiac event. Moreover, the COVID-19 pandemic has led to societal stress and increased unemployment, factors that have been associated with cardiovascular morbidity. SCAD emerges as a rare manifestation of coronary artery disease, which a few recent case reports link to COVID-19. The aim of this article is to summarize the relevant data on the pathophysiology of COVID-19 and SCAD along with a review of the reported cases on acute coronary syndrome (ACS) following SARS-CoV2 infection and, thus, to provide insights about the relationship between COVID-19 and SCAD.

Pain Management of Sciatic Nerve Injury Induced by Intramuscular Injection Using Distal Nerve Block

Abstract Injury to the sciatic nerve from dorsogluteal intramuscular (IM) injection is not an uncommon iatrogenic cause. This case report discusses the successful management of a child with sciatic nerve injury due to an IM injection in the left gluteal region. The child experienced severe pain that was not responding to pharmacological therapy and was limiting physiotherapy, which forms an important step in the management of patients with peripheral nerve injuries. The case report outlines the use of a posterior tibial nerve block, which provided immediate relief of pain sensations in the sole of the foot, allowing the child to walk and eventually improving sleep and appetite. The report suggests that distal nerve blocks may be an effective treatment option for patients with severe neuropathic symptoms resulting from peripheral nerve injury.