Uncommon presentation of Rosai-Dorfman disease: Nasal and nasopharyngeal involvement: A case report and discussion.

This study presents a rare case of Rosai-Dorfman disease (RDD) with nasal and nasopharyngeal involvement, illustrating the complexities in diagnosing this enigmatic histiocytic disorder. RDD, characterized by massive, painless cervical lymphadenopathy, poses diagnostic challenges due to its diverse clinical presentations. In this case, a 38-year-old woman presented with a year-long history of neck swellings, nasal congestion, headaches, and sinusitis-like symptoms. Radiological imaging and histopathological examination revealed RDD involvement in the nasopharynx and paranasal sinuses. RDD diagnosis was confirmed through immunohistochemistry. The patient's unique symptoms emphasize the importance of considering RDD in the differential diagnosis of sinonasal masses with recurrent or unusual complaints. This case underscores the need for increased awareness, multidisciplinary management, and further research to enhance understanding and treatment of RDD, especially in extranodal presentations.

Chronic multifocal tubercular osteomyelitis in a young Nepalese boy: A rare case presentation.

This study presents a rare case of chronic multifocal tubercular osteomyelitis in a 13-year-old boy from Nepal, a high-burden country for tuberculosis (TB). He presented with chronic pain in the lower extremities and had no pre-existing comorbidities. The patient's clinical presentation, diagnostic process, and treatment plan are described. Multifocal skeletal TB, though infrequent, poses diagnostic challenges due to its variable manifestations. This case emphasizes the importance of considering TB in differential diagnoses, especially in endemic regions, necessitating a high index of suspicion. Early detection and treatment align with WHO's "End TB" strategy and Nepal's TB management guidelines, promoting improved outcomes in high-risk populations.

Diagnostic journey and multimodal management of a rare urogenital rhabdomyosarcoma with rectovaginal fistula in an adolescent: a case report.

Introduction and importance: Rhabdomyosarcoma is a malignant tumour that originates from immature muscle cells and belongs to the category of soft-tissue sarcomas. It is predominantly diagnosed in children under the age of 6. This condition can manifest within the genitourinary tract and may exhibit non-specific symptoms such as changes in bowel habits and fever. Early detection and a comprehensive, multidisciplinary approach are essential to achieving more favourable outcomes. This report highlights an uncommon case of urogenital rhabdomyosarcoma in a 15-year-old girl, in addition to the presence of a rectovaginal fistula. Case presentation: A 15-year-old girl with presented with fever, altered bowel habits, and a lump in her lower abdomen, abdominal discomfort, and incomplete bowel evacuation. She also had faecal discharge from the vagina. Diagnostic imaging and biopsy confirmed urogenital rhabdomyosarcoma with a rectovaginal fistula. The patient is currently undergoing induction chemotherapy and is scheduled for radiation therapy and surgery. Clinical discussion: Rhabdomyosarcoma is a rare paediatric oncologic concern due to its aggressive nature and potential metastasis. The presentation varies based on age, tumour location, and metastasis presence. This patient presented with altered bowel habits, a pelvic mass and unusual feculent discharge, suggesting a rectovaginal fistula. Diagnostic imaging confirmed the diagnosis, and induction chemotherapy led to a positive response and reduced tumour size. Conclusion: Urogenital rhabdomyosarcoma is an aggressive malignancy with non-specific symptoms, making early diagnosis challenging. An accurate diagnosis requires high suspicion, imaging, and a biopsy. Multidisciplinary management, including surgery, chemotherapy, and radiation therapy, improves outcomes and improves paediatric patients' prognosis and quality of life.

Measurement of portal vein indices and splenic index by ultrasound and their association with gastroesophageal varices in cirrhosis of liver.

Background and Objectives: Esophageal and gastric fundic varices are common in liver cirrhosis patients. Ultrasound with the Doppler study assesses liver cirrhosis severity, measuring portal vein and splenic indices' association with gastroesophageal varices. Methodology: This study was conducted on 64 subjects with sonographic features of chronic liver disease who were referred for routine follow-up scans. Portal vein diameter, average velocity, splenic index, congestion index (CI), and portal vein area and velocity were measured. Result: Subjects with gastroesophageal varices had significantly larger portal vein diameters (14.7±1.64 mm) compared to those without varices (12.05±1.26 mm) (P<0.05). Conversely, subjects without varices exhibited a higher portal vein velocity of (17.9±0.6 cm/s) than with varices (13.91±2.01 cm/s) (P=0.0005). The splenic index was higher in subjects with varices (1120±494 cm3) than those without varices (419 cm3) (P<0.05). The CI was also higher in subjects with varices. Portal vein velocity showed the highest sensitivity (94%) with a cutoff of 19 cm/s, while the CI had the highest diagnostic accuracy (93.75%) with a cutoff of 0.10 cm xsec. The splenic index demonstrated a sensitivity of 92.85% and diagnostic accuracy of 92.18% with a cutoff of 480 cm3. The splenic index followed by the CI is found to be a better predictor of esophageal varices (area under the curve of 96.8 and 96%, respectively). Conclusion: Ultrasonographic assessment of the portal vein and spleen is a reliable, noninvasive method for predicting gastroesophageal varices in liver cirrhosis. The splenic index and CI have high diagnostic accuracy.

Uncommon presentation: isolated small bowel perforation after blunt abdominal trauma in a pediatric patient; a case report.

Introduction and importance: A small bowel perforation occurring in isolation as a result of blunt abdominal trauma (BAT) is a rare event, especially in pediatric patients. The unusual presentation and lack of distinct clinical indications can pose a challenge in promptly diagnosing this condition. This study seeks to underscore the importance of early detection and immediate surgical intervention when dealing with small bowel perforations following BAT. Case presentation: A 13-year-old girl arrived at the emergency department after falling from a cliff. Initial evaluations, including a physical examination and imaging studies, did not uncover any notable irregularities. Nevertheless, the persistent abdominal discomfort and pain prompted further concerns. A contrast-enhanced computed tomography scan was performed, confirming ileal perforation. The patient subsequently underwent exploratory laparotomy, which resulted in successful surgical treatment. Clinical discussion: BAT causes increased intraluminal pressure, leading to blowout perforation of the small bowel. Diagnosis can be challenging, particularly in the absence of immediate symptoms or conclusive radiographic findings. Close observation and repeated examinations are essential to detect delayed perforations. Early surgical intervention within 12 h of injury has been shown to significantly reduce complications and mortality rates. Conclusion: Isolated small bowel perforation is a rare occurrence in pediatric patients, and timely diagnosis and surgical intervention are crucial for favorable outcomes. Diagnostic imaging, like contrast-enhanced computerized tomography, helps identify the condition when clinical findings are inconclusive. Comprehensive counseling is essential for patients and their families to understand potential risks and intervention needs, ensuring appropriate management, and treatment delays.

Posterior reversible encephalopathy syndrome in postpartum patients with gestational hypertension: A case report emphasizing early recognition and management.

Posterior reversible encephalopathy syndrome (PRES) is a rare neuroradiological condition causing headaches, altered mental status, seizures, visual disturbances, and focal deficits. It is often associated with preeclampsia and eclampsia in pregnancy, but can also occur in patients with other medical conditions, such as hypertension, autoimmune diseases, renal dysfunction etc. This case report highlights the importance of recognizing PRES in postpartum patients with hypertension and the need for prompt diagnosis and management to prevent potential complications. A 30-year-old woman with gestational hypertension underwent scheduled induction of labor. After a successful delivery, she experienced a sudden headache but no other neurological symptoms. Imaging showed bilateral frontoparietal white matter edema, consistent with PRES. She was closely monitored, treated with analgesics, and improved within a week. The case highlights the rarity of PRES in postpartum patients without preeclampsia or eclampsia. It underscores the importance of considering PRES as a possible diagnosis in postpartum patients with hypertension, even in the absence of typical risk factors. Prompt control of blood pressure and careful monitoring are essential to ensure a positive outcome, as PRES can lead to life-threatening complications if not managed appropriately. The study highlights the importance of heightened awareness of PRES in postpartum patients with gestational hypertension. Early detection and timely management can improve prognosis, even in atypical cases. Healthcare professionals should be vigilant in assessing hypertension patients to diagnose and manage PRES, preventing neurological sequelae. Further research is needed to better understand PRES pathophysiology and risk factors in postpartum patients.

Lung cancer presenting with neurocognitive decline: a compelling case report highlighting healthcare seeking behavior in rural Nepal.

Introduction: Lung cancer is a major contributor of burden of disease globally. Early diagnosis plays a crucial role in determining the patient's prognosis. However, diagnostic constraints and healthcare-seeking behavior in rural areas contribute to the increased mortality and morbidity associated with this disease. Case presentation: The authors present a case that came in with mood and personality changes who was diagnosed with lung cancer with metastasis in the brain and did not seek health care services despite a prolonged duration of her neurocognitive symptoms. Clinical discussion: Rural communities face multiple barriers to early diagnosis and treatment, including healthcare-seeking behavior. It is crucial to develop policies aimed at addressing these barriers in order to enhance the health status of rural Nepal. Conclusion: The presentation of lung cancer with atypical symptoms can contribute to delays in diagnosis and treatment, ultimately impacting the overall prognosis of the patient. Late presentation to healthcare centers further exacerbates the burden of the disease, emphasizing the critical importance of proper healthcare-seeking behavior.

Unraveling recurrent urinary tract infection in adulthood: a rare case report of unilateral partial duplex collecting system with ureterocele.

Introduction: Duplication of the renal collecting system, known as the duplex collecting system, is a common congenital anomaly of the urinary tract. It can be partial or complete and affects 0.7-4% of the population, with a higher incidence in females. Ureteroceles are cystic dilations of the distal ureter and are often asymptomatic, particularly in adults. Case presentation: The authors present a case of a newly diagnosed partial duplex collecting system of the left kidney and left intravesical ureterocele, which was diagnosed for the first time at the age of 47 years, along with a history of symptoms suggestive of recurrent urinary tract infection and a urethral calculus which was surgically managed 5 years ago. Clinical discussion: The presence of a duplex collecting system can be observed even in males, with the possibility of recurrent urinary tract infection and the rare occurrence of an intravesical ureterocele. While ureteroceles are typically considered a congenital condition, they can also be diagnosed in adults. Conclusion: A partial duplex collecting system of the left kidney with left intravesical ureterocele in the age of 47 years in a male is a rare occurrence. Diagnosis and management of such urological cases can be challenging especially in a resource limited setting, which can be mitigated by awareness of unusual presentations, proper antenatal care, and access to proper diagnostic tools.

Distinct non-contrast computerized tomography head findings in a patient with secondary polycythemia in rural Nepal: a captivating case report highlighting diagnostic challenges.

Introduction: Tetralogy of Fallot is a cyanotic congenital heart disease which if untreated leads to death by adulthood. In rare cases who survive this can lead to secondary polycythemia due to chronic hypoxia who can present with multiple indistinct symptoms leading to diagnostic dilemma. Case presentation: The authors present a rare case of secondary polycythemia diagnosed in early fifties with the unique non-contrast computerized tomography head findings who presented with a spectrum of long standing symptoms and a history of neurological manifestations. Clinical discussion: Patients diagnosed with polycythemia in adulthood can have a background of an untreated congenital heart disease, which can be complemented further by appropriate radiological investigations in a resource poor setting. Conclusion: Polycythemia secondary to an untreated congenital heart disease in the age beyond 50 is a rare occurrence. The presentation of these patients might present clinicians with a diagnostic challenge which can be mitigated with an appropriate knowledge of the peculiar non-contrast computerized tomography head findings.

Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report.

This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.

Traumatic diaphragmatic hernia in rural Nepal: A rare case report illuminating diagnostic challenges and healthcare discrepancies.

Traumatic diaphragmatic hernia (TDH), a rare condition, often presents with diverse symptoms and can be undiagnosed for a long time. This case study underscores the significance of considering uncommon ailments, particularly in underserved regions with limited medical access. A woman with recurring epigastric pain and respiratory issues, self-treated for gastritis, was eventually diagnosed with a large diaphragmatic hernia caused by prior trauma. This highlights challenges faced by rural patients due to inadequate healthcare access. Timely diagnosis, even for prolonged symptoms, is crucial. Improved health care and education in underserved areas are essential for timely treatment and better outcomes.

Fahr's syndrome with hypoparathyroidism, thrombocytopenia, and seizure: a rare case report.

Fahr's syndrome, also known as bilateral striatopallidodentate calcinosis is a rare neurological disorder that is characterized by abnormal deposition of calcium in the basal ganglia, cerebellar dentate nuclei, and cerebral cortical white matter. The authors report an extremely uncommon case of Fahr's syndrome with thrombocytopenia, hypoparathyroidism, and seizure. Case Presentation: A 32-year-old male was brought with a repeated history of twitching of hands, tingling sensation, and uncontrolled seizure despite medications. Clinical Discussion: Computed tomography findings showed bilateral basal ganglia, cerebellar dentate nuclei, and subcortical cerebral white matter calcifications. Laboratory studies revealed reduced levels of calcium, parathyroid hormone, and thrombocyte count. Based on these investigations Fahr's syndrome probably due to hypoparathyroidism with thrombocytopenia was diagnosed. The patient was initially treated with intravenous calcium gluconate and platelet transfusion followed by oral calcium supplementation. Conclusion: Fahr's syndrome due to hypoparathyroidism should be suspected in any patient with neurological symptoms and hypocalcemia. Seizures in the patient of Fahr's syndrome with thrombocytopenia could be very detrimental due to the risk of intracranial hemorrhage. Hence, treatment should be started as early as possible.