Common Presentation Research Articles

Lower gastrointestinal signs and symptoms: assessment, investigations, diagnosis and management strategies

This clinical review focuses on the most common presentations of lower gastrointestinal (GI) signs and symptoms, exploring their prevalence, aetiology, clinical presentation, and the importance of thorough history-taking and examination. In addition, it discusses the investigations and management plans. This paper builds upon existing studies that focused on the presentations of upper GI signs, symptoms and management plans.

FIGO PALM–COEIN Classification of Abnormal Uterine Bleeding in Saudi Women

Abstract Background: Abnormal uterine bleeding (AUB) is a significant concern in women’s health. However, there is limited research on its prevalence and characteristics in Saudi Arabia. Objectives: To determine the prevalence of AUB in a gynecology outpatient setting in Saudi Arabia and to categorize the cases of AUB according to the FIGO classification. Methods: This retrospective study included all Saudi female patients who presented to the Obstetrics and Gynecology clinic at King Khalid University Hospital, Riyadh, Saudi Arabia, over a 2-year period, except those who were pregnant. Data regarding demographics, BMI, clinical symptoms, laboratory tests, ultrasound results, and histopathology findings was collected. Cases of AUB were classified using the FIGO PALM-COEIN system. Results: A total of 2724 patients were included, of which 44.6% had AUB. The most common presentations of AUB were irregular cycles (59.3%) and heavy bleeding (12.8%), and the most affected group was the reproductive age group (19-39 years). Obesity was identified as a significant risk factor. AUB-O (ovulatory disorder; functional cause) was the most prevalent (23%), followed by AUB-L (leiomyomas, 18%; structural cause) and AUB-P (polyps, 8.8%). Specific AUB patterns correlated with ultrasonographic findings, with heavy bleeding associated with polyps, adenomyosis, and leiomyomas. AUB patients had lower hemoglobin levels, indicating potential health impacts. Conclusions: The study found that nearly half of all women presenting with gynecological complaints in Riyadh, Saudi Arabia, have AUB. According to the FIGO classification, functional causes of AUB were more prevalent than structural causes. Further research is necessary to explore underlying causes of AUB and its long-term health implications.

Clinical features of tularemia in cats: a retrospective study from 2000 to 2021.

The objectives of this study were to describe the clinical features of cats diagnosed with tularemia, and to compare the clinical features of cats with and without tularemia and identify characteristics increasing the likelihood of a tularemia diagnosis. Diagnostic laboratory data and medical records were retrospectively reviewed of cats tested for tularemia between 2000 and 2021. Clinical features including signalment, presenting complaint(s), physical examination findings and clinicopathologic data were described for cats with tularemia diagnosed by culture and/or PCR. Clinical features were also compared between PCR+ vs PCR- cats and logistic regression was used to identify features that predicted PCR+ status. A total of 18 cats were diagnosed with tularemia. The affected cats had a mean age of 5.8 ± 4.9 years, with a slight male predominance. Most were domestic shorthair cats and had outdoor access. Common presenting complaints included lethargy and anorexia, while physical examination findings frequently revealed fever, peripheral lymphadenomegaly and oral ulcers. Laboratory findings varied, with notable abnormalities including neutrophilic inflammation observed on cytology and widespread acute systemic pathologic changes in necropsy results. Leukopenia and neutropenia were more common in PCR+ vs PCR- cats, and these factors were 7.4 times (confidence interval [CI] 1.2-62.3) and 10.0 times (CI 1.4-83.2) more likely to occur in PCR+ vs PCR- cats, respectively. There were no significant differences between the groups in other parameters including anemia, thrombocytopenia, band neutrophilia and hyperbilirubinemia. This study provides a more comprehensive description of tularemia in cats than has been available to date. In particular, leukopenia and neutropenia are significantly associated with tularemia-positive cats. These clinical features should be considered and raise suspicion for tularemia in cats. These findings may be valuable for the timely diagnosis, treatment and prevention of tularemia outbreaks in cats and humans.

Nasal Extranodal NK/T Cell Lymphoma with Orbital Involvement: A Rare Entity of Common Presentations.

Nasal Extranodal NK/T Cell Lymphoma is an aggressive tumour affecting the nasal and midline structures, causing surrounding tissue destruction as the result of its progression. The initial presentations are similar to symptoms of benign nasal polyps, such as nasal obstruction, hyposmia and nasal discharge. As the disease progresses, the involvement of the palate, paranasal sinuses, orbit and skin become alarming symptoms. We report a case of a young male with Nasal ENKTL who presented with symptoms similar to acute on chronic rhinosinusitis with orbital complications. The challenges of diagnosing and getting to the correct management pathway are discussed.

Spectrum of orbital fat necrosis in rhino-orbital-cerebral mucormycosis in post-COVID-19 patients.

Rhino-orbital-cerebral mucormycosis (ROCM) is the most common presentation of mucormycosis. Sinonasal-orbital debridement with exenteration is a life-saving procedure in ROCM patients in view of severe involvement of sinuses and the eyeball. Following the second wave of coronavirus disease 2019 (COVID-19), there was a massive surge in mucormycosis cases in India in post-COVID-19 patients. Of over 300 cases of mucormycosis admitted in our hospital, many underwent exenteration and these specimens were evaluated histopathologically, where fat necrosis was found to be a prominent finding. The spectrum of fat necrosis in ROCM in orbital fat has not been described in literature. Hence, we sought to evaluate the significance and spectrum of orbital fat necrosis in ROCM. This 3-month retrospective study included 15 cases of ROCM which underwent exenteration. Clinical data, radiologic details, and histopathologic findings were tabulated. Sections were also subjected to Periodic acid Schiff (PAS) and Gomori's methenamine silver (GMS) stains for confirming the fungus. All 15 cases showed fat stranding on computed tomography (CT) scan. On histopathologic examination, various tissue reaction patterns observed included acute/chronic inflammatory infiltrate, suppurative granulomas with giant cells, coagulative and fat necrosis, broad aseptate fungal hyphae with or without angioinvasion, and neural invasion. Fungal hyphae were confirmed with PAS and GMS stains. The spectrum of fat necrosis observed in all the cases included 1) acute necrotizing fat necrosis, 2) ghost adipocytes with or without saponification, and 3) crystalline/gouty fat necrosis. Fat necrosis is a significant finding in ROCM, both on CT scan and histopathology. All three patterns of fat necrosis may be observed simultaneously in a case of ROCM.

Chronic Widespread Pain

ABSTRACT OBJECTIVE This article reviews the potential etiologies of chronic widespread pain syndromes and outlines a practical approach to the management of patients with these disorders. LATEST DEVELOPMENTS Recent updates to diagnostic criteria for primary chronic widespread pain syndromes have allowed for more effective diagnosis. Fibromyalgia is the most common presentation of chronic widespread pain, and the concept of nociplastic pain has been used to describe pain that is related to altered processing of pain sensory pathways. Research studies have provided a better understanding of the pathophysiology of the central augmentation that occurs in patients with nociplastic pain and fibromyalgia. ESSENTIAL POINTS Primary chronic widespread pain and fibromyalgia have established diagnostic criteria in which chronic pain involves multiple defined regions and occurs for longer than 3 months. Evaluation of chronic widespread pain should be directed by the clinical presentation. Neurologic disease can present with chronic widespread pain but is accompanied by associated signs and symptoms. Patients with chronic widespread pain benefit from effective communication that validates concerns, provides an understandable explanation of the presenting symptoms, and sets realistic expectations in outcomes using a comprehensive multimodal care plan.

Risk of Malignancy Index Assessment in Pre and Postmenopausal Women with Adnexal Masses: A Cross-Sectional Study

Background: Adnexal mass is a common presentation in gynecological settings. Differentiation between benign and malignant tumors is crucial for deciding the proper place and type of treatment. The RMI is considered a good and reliable tool in pre-operative differentiation of ovarian tumors, but limited work has been done on this tool in low-resource settings. Objective: To assess the diagnostic accuracy of Risk of malignancy index in differentiating benign from malignant ovarian tumors. Methods: This cross-sectional study was conducted in Department of Obstetrics & Gynaecology at a Teaching Hospital, Lahore. Eighty females between 30-80 years, admitted with adnexal mass in the Department of Obstetrics & Gynaecology at Central Park Teaching Hospital, Lahore from October 1st to 30th September, 2023 were enrolled. RMI was calculated and findings were compared with histopathology. Results: Among enrolled 80 females with adnexal mass the mean age of females was 43.70 ± 8.21 years. The mean BMI was 30.60 ± 5.68 kg/m2. The mean duration of post-menopausal bleeding was 14.50 ± 6.22 months. The mean RMI of females was 212.95 ± 159.76. The Sensitivity of RMI was 100%, specificity was 90.6%, PPV was 72.7%, NPV was 100%, and diagnostic accuracy was 92.5% taking histopathological findings as gold standard. Conclusion: Thus, RMI is found to be a reliable tool for the diagnosis of ovarian malignancy in females with suspicious adnexal mass.

Outcome of radiotherapy for metastatic neuroblastoma

Background. Neuroblastoma (NB) is a prevalent solid extracranial tumor that primarily affects children. It is the third most common type of cancer in children, following leukemia and brain tumors. Aim. The study aimed to discuss the clinical outcomes after adjuvant radiotherapy to the primary site in case of metastatic NB after good response to chemotherapy. Methods. A retrospective clinical-dosimetric study of 25 patients metastatic NB treated with radiotherapy at Baghdad Radiotherapy and Nuclear Medicine Center, at Baghdad Medical City Complex, Baghdad, Iraq. Data collection begin from December 2023 and March 2024. Data were collected retrospectively with review of records. The following variables were studied: sex, age, date of diagnosis, site of primary tumor, site of metastasis, chemotherapy, surgery, RT, RT sites, doses of RT, fractions of RT, recurrence sites, date of relapse and survival outcome for each patient. Follow-up period include look up to metastasis, site of metastasis, recurrence, site of recurrence and survival rates. Results. In relation to sex, males (14, 56%) were more than females (11, 44%). The mean age of NB cases was 45.64±17.6 months. In NB, suprarenal masses were the most common site of primary in 21 (84%) of patients. The most common site of metastasis of NB was bone marrow in 12 (48). The multi sites of recurrence was the commonest presentation in 48%. The relapse-free survival (RFS) was 22.38 months. 5 out of 25 patients were alive whereas 20 (80%) of cases were dead. The median follow-up time was 6 years, and the OS of NB in this study after optimal treatment was 2.46 years (95%CI= 1.705-3.21) for survivors. The MS was 4.84 years. The OS was 6 yrs for those diagnosed at 2017, 2 yrs for those diagnosed at 2018, 1.5 yrs for those diagnosed at 2019, 1.75 yrs for those diagnosed at 2020, 3 yrs for those diagnosed at 2021 and 1.5 yrs for those diagnosed at 2022. There was a significant difference among doses (Log Rank (Mantel-Cox)= 11.425, p=0.044). Conclusions. This study is the first study in Iraq that examines the clinical results of radiotherapy on the primary site in cases of metastatic neuroblastoma following induction chemotherapy. The suprarenal masses of neuroblastoma are the most often occurring main site. The primary sites of metastases for neuroblastoma (NB) are the bone marrow and bones. Timely detection and proactive treatment of NB can improve overall results. Reoccurrence of skeletal issues and the infiltration of bone marrow are frequently observed. There were no significant differences observed in terms of relapse-free survival and overall survival based on factors such as sex, age, location of the main tumor, chemotherapy, radiation treatment, surgery, and radiation therapy dosages.

The Medical Management of Spontaneous Pneumothorax: A Concise Review.

Spontaneous pneumothorax is an increasingly common clinical presentation, the management of which, until recent years, had remained unchanged for decades. A recent surge in pneumothorax research has produced the largest randomised controlled trials in the field yet and has revolutionised the management of spontaneous pneumothorax. The body of evidence supporting the introduction of conservative and ambulatory care in appropriate patients in recent guidelines now allows these patients, many of whom would otherwise have been admitted to hospital, to be managed in the outpatient setting and reduces their risk of complications compared to conventional chest drain insertion. In this review, we discuss recent advances in the management of pneumothorax and the evidence underpinning contemporary guidelines. We aim to equip physicians with the knowledge to engage their patients in the decision-making process regarding their pneumothorax, whilst keeping patient safety and patients' own preferences at the centre of their care.

Neoadjuvant Immunotherapy and De-Escalation of Surgery in Locally Advanced Breast Implant-Associated Anaplastic Large Cell Lymphoma (BIA-ALCL)

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare form of non-Hodgkin T cell lymphoma diagnosed in patients with a history of breast implants. Most patients develop a periprosthetic effusion at early stages of disease while less common presentations include a palpable mass, severe capsular contracture, lymphadenopathy, or cutaneous erythema. Due to the complex nature of this disease, a multidisciplinary approach is necessary for optimal management, particularly in locally advanced disease or inoperable patients. We present the successful use of neoadjuvant therapeutic protocols in two cases of locally advanced BIA-ALCL. The first case, a 52-year-old patient with a left breast mass-like stage III disease who underwent combined targeted immunotherapy and chemotherapy (BV-CHP). Following a complete radiological and metabolic response, the patient underwent bilateral implant removal, right total intact capsulectomy, left en bloc capsulectomy and skin resection from the left inframammary fold in continuity with the capsule. The second case, a 65-year-old patient with a right breast swelling and mass-like stage IIA disease who received targeted immunotherapy, Brentuximab vedotin (BV). Following a complete metabolic response, she underwent bilateral implant removal and en bloc capsulectomy. A literature review and the reported cases suggest the effectiveness of targeted immunotherapy as monotherapy or in combination with chemotherapy in locally advanced BIA-ALCL in disease downstaging, surgical de-escalation, reduction of significant post-operative complications and an acceptable tolerance profile. Although surgery is an essential part of treatment, timing and type of intervention should be carefully planned, especially when primary, radical resection is uncertain.

AntiSox-1 Limbic Encephalitis: When A Movement Disorder Evolves Oddly And Delirium Just Does Not Feel Right

Abstract Background A 74year old male presented to a Movement Disorder service with a 15year history of a parkinsonian syndrome with asymmetric, akinetic rigidity and prominent axial features. Motor features were stable for almost 13years. Neuropsychiatric features rapidly emerged over several months including: multimodality perceptual hallucinosis, upside down and tilt illusion, akinetopsia, intractable insomnia, emotional incontinence and Othello syndrome. A marked motor, mysaesthenic pattern, deterioration occurred in conjunction with hypoactive delirium, dysphagia, pyrexias, raised inflammatory markers and weight loss, necessitating hospitalisation. Computed tomography (CT) of chest, abdomen and pelvis did not demonstrate infective or neoplastic aetiology. CT brain did not demonstrate cerebellar atrophy. Positron emission tomography did not demonstrate a vasculitis. Drg regimen alterations brought about minor improvements, but he remained very severely frail and discharged to hospice care. Unexpectedly, cognition then markedly improved and neuropsychiatric symptoms resolved over months, and he returned home, albeit now severely frail. There was persistence of hemiparkinsonian symptoms, contralateral to which, dystonia had emerged with new bilateral upper limb ataxia and nystagmus. No mysaesthenic features persisted. Methods Cerebrospinal fluid analysis and electroencephalography were not undertaken. MRI brain was not undertaken. Results Anti Sox-1 positive. Anti Zic-4 and Recoverin were equivocal. Neuronal antibodies were negative. Conclusion Limbic encephalitis as a result of AntiSox-1 onconeural antibodies is most commonly associated with small cell cancer of the lung (prevalence of 36.5% of cases). Lambert-Eaton Mysaesthenic Syndrome is a more common presentation than paraneoplastic cerebellar degeneration. Hindsight raises the possibility of non-convulsive status epilepticus as an explanation for abrupt hypoactive delirium presentation on the background of deteriorating neuropsychiatric features. Oncological or immunotherapeutic intervention was not considered appropriate by respiratory or neurology teams respectively; nor did the patient wish for these to be pursued. Case reports indicate that an underlying neoplasm is not always identified. Non-paraneoplastic autoimmune encephalitis can have a better prognosis.

An Evaluation of The Older Persons Presentation To The Emergency Department (ED) Following A Fall/Syncope/Presyncope

Abstract Background Falls events are a leading reason for presentations to the ED, particularly in older adults. Often these events are unwitnessed and unexplained. Therefore, there is strong consensus that the management of unexplained falls should be evaluated in a similar fashion to syncope as outlined by the World Falls and European Society of Cardiology guidelines. Methods The aim of this study was to evaluate adherence with current falls/syncope guidelines. Consecutive patients over the age of 75 who presented with a fall or syncope to a university teaching hospital in October 2023 were included. Data was collected on diagnostics completed (ECG, CT Brain, Carotid Doppler Ultrasound, EEG, pro BNP, Troponin, Echocardiogram, and External loop recorder), whether specialist falls review was performed, and readmission within 6 months. Completion of diagnostic tests were compared between those who were and were not reviewed by a specialist service using the Chi squared test. Results Falls/syncope/presyncope comprised 17.5% (160/913) of presentations of older people to the ED. Overall, 43% (n=68) had an ECG completed, 15% (n=23) had a pro BNP, and 24% (n=38) had a troponin level measured, 11% (n=17) had an Echo performed, and 10% (n=16) had prolonged cardiac monitoring (R test), 47% (n=74) had a CT Brain performed. Among those who were reviewed by a specialist falls service, (39% n= 62) completion of recommended investigations was significantly higher; ECG (69% v 26%, p<0.01), pro BNP (24% v 8.3%, p<0.01), echocardiogram (21% v 4.2%, p<0.01), cardiac monitoring (18% v 5.2%, p<0.01). Conclusion Falls and syncope are common presentations to the ED among older adults. Patients who were seen by a specialist falls team were more likely to have the appropriate diagnostics complete. Therefore, a specialist falls/syncope pathway led by a specialist falls service in the ED could result in better outcomes for patients.

Infective endocarditis in children with heart diseases at Jakaya Kikwete Cardiac Institute, Tanzania: a cross-sectional study

BackgroundInfective endocarditis (IE) in children with pre-existing heart conditions is a life-threatening disease entity associated with significant morbidity and mortality. In our cardiac setting, the management outcomes of children with IE are not well documented. We therefore aimed to document the clinical profile and treatment outcomes of children with IE attended at the Jakaya Kikwete Cardiac Institute (JKCI).MethodsThis was a hospital-based cross-sectional study with longitudinal follow-up conducted among children with IE diagnosed by Modified Duke’s Criteria at the JKCI from November 2021 to November 2023. A structured questionnaire was used to collect patients’ socio-demographic and clinical data.ResultsDuring the study period, 1,546 children were admitted to the JKCI. A total of 30 children with IE were enrolled, of these half (n = 16, 53%) were aged 10 to 18 years, with a median of 10 yrs (Inter quartile range, IQR: 6.5–12.2 yrs). Twelve children (40%) and nearly half (n = 14, 47%) had fever and used antibiotic therapy respectively. Majority of participants had anaemia (n = 26, 87%) and heart failure (n = 21, 70%). Nine children (30%) had positive blood cultures and S. aureus was the most frequently isolated organism (n = 7). Ten patients (33%) developed acute kidney injury (AKI), and eleven (37%) children died during the hospital stay.ConclusionIn our setting, in-hospital mortality due to IE among children with heart diseases is high. Heart failure and anaemia were the common presentations of IE. Furthermore, AKI was observed to be the leading in-hospital non-cardiac complication.

Characterization of Laboratory-Confirmed Creutzfeldt-Jakob Disease From 3 Ontario Tertiary Care Centers Between 2012 and 2022: A Retrospective Cohort Study.

Globally, Creutzfeldt-Jakob disease (CJD) affects one in one million people annually, but there is a paucity of recent Canadian data. This study summarizes epidemiology trends and diagnostic timelines of laboratory-confirmed CJD cases in three tertiary Ontario hospitals. Using laboratory information systems, we identified 30 patients with a laboratory-confirmed CJD diagnosis between 2012 and 2022 at three major tertiary hospitals in Ontario. Retrospective chart reviews were then completed. Patients had a mean of 2.2 hospital visits (SD, 1.2) prior to being admitted for testing. The most common symptom presentations included loss of coordination (63.3%), behavioral changes (60%), progressive mobility loss (53.4%), memory loss (50.0%), and involuntary movements (50.0%). Magnetic resonance imaging findings showed potential CJD in 76.7% of cases, and 56.7% exhibited periodic sharp wave complexes characteristic of CJD on electroencephalogram. The mean duration from symptom onset to microbiologic testing was 91 days (SD, 90.7). End-point quaking-induced conversion (EP-QuIC) testing of cerebrospinal fluid was positive in 90.0% of patients, while 83.3% tested positive for 14-3-3 on enzyme-linked immunosorbent assay. Elevated cerebrospinal fluid 14-3-3 levels significantly correlated with shorter duration from symptom onset to death (R 2 = 0.71, F = 19.55, P = .0022). Post-diagnosis, 46.7% of patients were discharged home, 16.6% were transferred to external palliative care or hospice facilities, and 36.7% died during admission. The mean time from symptom onset to death was 121 days (SD, 120.7), and from diagnosis to death 35 days (SD, 83.9). This study highlights the importance of early CJD consideration and laboratory testing when appropriate neurologic symptoms are present.

Orbital Myositis after Herpes Zoster Ophthalmicus: A Case Report and a Narrative Review of the Literature.

Herpes zoster ophthalmicus results from the reactivation of the latent varicella zoster virus, affecting the first branch of the trigeminal nerve. In 20-70% of cases, Zoster Ophthalmicus can lead to ocular involvement, affecting various orbital structures. Orbital myositis is a rare but severe complication of herpes zoster ophthalmicus. We present a case of a 52-year-old man with no significant medical history who developed zoster-associated right ocular myositis and dacryocystitis. He was treated with intravenous acyclovir and oral steroids. A review of the literature identified 29 patients across 19 studies. The median age was 61 years, with a slight female predominance. In 55% of cases, the patients had no notable medical history. The most common presentation of myositis involved all oculomotor muscles. There were 22 cases who were treated with intravenous antiviral therapy and 19 received steroids. A full resolution of symptoms was achieved in 51.7% of patients. Zoster-related orbital myositis is a rare complication that should be considered even in immunocompetent individuals. It may occur either before or after the appearance of a vesicular rash. Magnetic resonance imaging is the preferred radiological exam for assessing orbital involvement. Intravenous antiviral therapy should be started within 72 h of symptom onset, and its combination with systemic corticosteroids appears to be an effective treatment for zoster-related ocular myositis.

Epidemiology of childhood invasive pneumococcal disease in Australia: a prospective cohort study

BackgroundThe widespread use of pneumococcal conjugate vaccines (PCV) has changed the epidemiology of invasive pneumococcal disease (IPD) in children globally.MethodsMulticentre prospective audit of IPD episodes from five paediatric hospitals in...

Efficacy of Upper Gastrointestinal Endoscopy In Cholelithiasis Before Laparoscopic Cholecystectomy

Background: The most prevalent condition affecting the gallbladder and biliary tree is cholelithiasis. Presence of gall stones is discovered commonly during imaging tests for other pathologies. Laparoscopic cholecystectomy is a preferred modality for the treatment of gallstone disease. Objective: The primary aim of the study is to determine the efficacy of upper gastrointestinal endoscopy as a routine investigative modality in symptomatic presentation of cholelithiasis prior to laparoscopic cholecystectomy. Methods: A total 50 participants having single or multiple stones in the gall bladder found on ultrasound were included in the study. Enrolled patients underwent routine investigations. The baseline demographic details like patient name, age, gender, clinical presentation, and upper endoscopy findings were documented. The intensity of the pain was measured by visual analogue scale. Results: A total of 36% patients were in the age-group of < 30 years. The highest incidence of cholelithiasis was observed in female gender. Abdominal pain was the most common symptom. The most common upper gastrointestinal endoscopy findings were gastritis followed by gastritis erosion. A significant reduction of pain was noted in group I as compared to group II at first- and fourth-week time durations. Conclusion: Cholelithiasis has common clinical presentations in similarity to other upper gastrointestinal diseases. Upper gastrointestinal endoscopy can be recommended for patients with atypical presentation to prevent post-surgical adverse outcomes.

Haematoma block is the most efficient technique for closed forearm fracture reduction: a retrospective cohort study

BackgroundForearm fractures are a common ED presentation. This study aimed to compare the resource utilisation of three anaesthetic techniques used for closed forearm fracture reduction in the ED: haematoma block...

Comprehensive Analysis of Garcin Syndrome: A Systematic Review of the Etiology, Diagnosis, and Treatment.

Garcin syndrome is a rare neurological condition characterized by progressive unilateral involvement of multiple cranial nerves, without typical intracranial hypertension. It is often linked with aggressive malignancies and invasive infections; hence, it presents significant diagnostic and therapeutic challenges. Despite the advances in medical technology, the prognosis still remains poor, and there is limited literature on comprehensive reviews regarding its etiology, diagnosis, and management. A Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)-based systematic review was performed in order to compile updated evidence related to Garcin syndrome. The PubMed and Scopus databases were comprehensively searched using the search terms "Garcin syndrome" AND ("etiology" OR "diagnosis" OR "treatment" OR "management"). Information was obtained from case reports and focused on common etiologies, clinical presentations, diagnostic methodologies, treatment protocols, and outcomes. The review discussed very diverse etiologies of Garcin syndrome. The most common among these were skull base tumors, metastatic lesions, and invasive infections like mucormycosis. Most of these were multiple cranial nerve (CN) involvements in which CN V (trigeminal nerve), CN VII (facial nerve), or CN XII (hypoglossal nerve) involvement was common. Advanced imaging, especially MRI, played a very crucial role in diagnosis, showing the presence of extensive bony destruction with the involvement of cranial nerves. Treatment was varied according to the etiology, ranging from chemotherapy and radiotherapy in neoplastic cases to active surgical intervention supported by antifungal therapy in infected cases. Garcin syndrome is a clinical challenge due to its diverse etiologies and complex management profile. While early diagnosis and intervention are emphasized, the prognosis remains grave, especially in cases presenting with metastatic disease or immunocompromised states. Future research should focus on better, more sensitive diagnostic modalities and the investigation of newer therapeutic approaches for Garcin syndrome patients.

Clinical profile and management of pediatric hereditary angioedema in resource-constrained settings: our experience from a single centre in North India.

Hereditary angioedema (HAE) is a rare genetic disorder. The pattern of HAE is different in children as compared to adults. There is limited literature from developing countries where all first-line treatments are either unavailable or not easily accessible.Data of children with HAE were retrieved from medical records of patients registered in the Pediatric Immunodeficiency Clinic at our institute.Of the 206 patients with HAE, 61 were diagnosed before the age of 18years. Male: female ratio was 1.1:1. Median age at onset of symptoms and diagnosis were 6.2years (range 1-17years) and 10.7years (range 1.5-18years) respectively. Median delay in diagnosis was 4.9years (range 0-16years). The commonest presentation was facial swelling (51/61) followed by swelling of extremities (47/61). Laryngeal edema and abdominal symptoms were reported in 28/61 and 31/61 patients respectively. Abdominal attacks were found to be less common in children as compared to adults. Most patients in our cohort received fresh-frozen plasma (n = 5/61) as on-demand therapy. Long-term prophylaxis included attenuated androgens (n = 25/61) and tranexamic acid (n = 23/61). Median duration of follow-up was 2242 patient months. One patient died on follow-up in this cohort.This is the largest single-centre cohort of pediatric HAE from resource-constrained settings. Facial attacks were more common, and there were significant delays in diagnosis when the age of onset of symptoms was younger. Gastrointestinal symptoms were less common in children than adults. HIGHLIGHTS: One of the largest single-centre cohorts of pediatric HAE and the only one from resource-constrained settings. There were significant delays in diagnosis when the age of onset of symptoms was younger. Abdominal attacks were found to be less common in children as compared to adults.