Stevens-Johnson Syndrome –Toxic Epidermal Necrolysis Induced by Lamotrigine in a 15-Year-Old Girl: A Case Report

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are immune complex-mediated hypersensitivity reactions and have been associated with numerous adverse drug side effects. TEN and SJS are important adverse drug reaction in dermatology and medicine department. For better patient care and reduce burden to patients effective reporting of ADRS are necessary. Effective reporting also affect on reducing mortality and morbidity. This study is scientifically sound. Lamotrigine (LTG), an anticonvulsant and mood stabilizer drug, may be associated with this adverse reaction affecting the skin and mucous membranes. SJS carries high mortality and morbidity and requires special attention as the use of LTG is increasing in clinical practice. We present a case where the patient developed Stevens-Johnson syndrome at 2 weeks after starting LTG treatment. The case is discussed because of its relevance to the use of LTG which is commonly prescribed by neurologists and psychiatrists and whose use should be stopped at the appearance of skin-mucous membrane rash

Neuroendocrine Tumor of Esophagus as a Rare Case of Dysphagia in an Elderly Male: A Case Report from Pakistan

Neuroendocrine tumors (NETs) are the neoplasms that develop from the enterochromaffin cells and can involve different parts of the body. Esophageal NETs are rare with most of them presenting as neuroendocrine cancers (NEC) and are associated with poor prognosis. Here, we present to you a case of an elderly male, who was evaluated for dysphagia and underwent endoscopy and radiological investigations and was diagnosed as esophageal NET on the basis of the histopathology

Diffuse Alveolar Hemorrhage Revealing Systemic Lupus Erythematosus

Alveolar hemorrhage is an uncommon complication of systemic lupus erythematosus, rarely being the initial symptom. This condition is a medical emergency, as it can quickly progress to life-threatening respiratory failure. The characteristic symptoms include coughing up blood, anemia, and lung inflammation on imaging. Early treatment with corticosteroids and immunosuppressants can significantly improve outcomes. We present a case of a young woman with alveolar hemorrhage that led to the diagnosis of severe systemic lupus erythematosus. She responded favorably to immediate treatment

An Unusual Case of Solitary Rectal Ulcer Syndrome with Celiac Disease

Solitary rectal ulcer is reported to be a rare disease among children therefore it is usually difficult to diagnose. Several studies have been done regarding clinical presentation and diagnosis of solitary rectal ulcer syndrome (SRUS). Celiac disease has been rarely associated with SRUS and currently no data is available regarding the incidence of SRUS in celiac disease. Here we present to you a case of a 15 years old boy, with previously diagnosed with celiac disease, now presented with bleeding per rectum and was diagnosed to have SRUS

Tuberculosis and Retroperitoneal Fibrosis Associated with Takayasu's Disease: A Coincidental Association or a Pathogenetic Relationship?

Retroperitoneal fibrosis (RPF), also known as Ormond's disease, is a rare and progressive condition characterized by the formation of abnormal fibroinflammatory tissue in the retroperitoneum. It can be idiopathic or secondary to infiltrative, infectious, or malignant diseases. Retroperitoneal fibrosis associated with tuberculosis is a particularly rare form, with a complex diagnosis and poorly understood pathophysiological mechanisms. At the same time, Takayasu's disease, a vasculitis primarily affecting the aorta and its major branches, can be triggered by infections, particularly Mycobacterium tuberculosis, through a hypersensitivity reaction. We report the case of a 26-year-old patient presenting with retroperitoneal fibrosis associated with Takayasu’s disease in the context of multifocal tuberculosis, illustrating a rare combination of these conditions

Jacobsen Syndrome with 11q Deletion, Trigonocephaly, and MYBPC3 Mutation: A Unique Case Report

Jacobsen syndrome (JS), also known as 11q deletion disorder, is a rare chromosomal condition characterized by a wide range of congenital anomalies, developmental delays, and hematological abnormalities. This report presents the case of a 9-month-old female child with trigonocephaly, mild developmental delay, hypotonia, and ocular tracking issues. Initial examinations revealed a small atrial septal defect (ASD), a depressed and broad nasal bridge, epicanthic folds, low-set ears, overfolded helices, a smooth philtrum, and a high palate. Genetic testing, including clinical exome sequencing and chromosomal microarray analysis, identified a pathogenic heterozygous copy number deletion in the 11q23.3-q25 region, confirming the diagnosis of Jacobsen syndrome. Additionally, mutations in the MYBPC3 and SYNE1 genes were identified. The MYBPC3 mutation is notable due to its association with cardiomyopathy, a finding that adds complexity to the cardiac profile typically observed in Jacobsen syndrome. Cardiomyopathy was diagnosed in the patient, emphasizing the importance of early cardiological evaluation. The diagnosis underscores the importance of early genetic evaluation in children with congenital anomalies and developmental delays. Comprehensive management involving genetic counseling, regular monitoring, and supportive therapies is essential to address the diverse needs of patients with Jacobsen syndrome. This case highlights the necessity for continued research and awareness to enhance understanding, treatment, and long-term outcomes for individuals affected by this rare chromosomal disorder

A Seldom Encountered Intestinal Obstruction: Gallstone Ileus

Gallstone ileus refers to mechanical small bowel obstruction secondary to luminal occlusion by a gallstone, most frequently in the distal ileum or ileocecal junction. The gallstone enters the enteral lumen through a cholecystoenteric fistula and should be large enough to be impacted in the small bowel. Although rare, it is a significant cause of mechanical small bowel obstruction in older adults. Computed tomography is the diagnostic modality of choice, and demonstrating Rigler’s triad is diagnostic of gallstone ileus. We here report the case of an 83-year-old male with gallstone ileus, wherein the impacted stone spontaneously passed, relieving the obstruction; subsequently, laparoscopic subtotal cholecystectomy and duodenal fistula repair were performed successfully. Additionally, we highlight using indocyanine green fluorescence imaging to navigate the complexities of biliary surgery. This case underscores the challenges in diagnosing and managing gallstone ileus and emphasizes the role of minimally invasive surgical techniques in complex biliary diseases

Anterior and Posterior Uveitis Revealing Lyme Disease

Lyme disease, a tick-borne spirochetal infection, often begins with a characteristic skin lesion, erythema chronicum migrans, which may be followed by neurologic, cardiac, ocular or joint abnormalities, ocular manifestations remain rare in Lyme disease. We report an original case of a 20-year-old female patient presenting with bilateral anterior and posterior uveitis with bilateral stage two papilledema associated with inflammatory arthralgias, in whom the etiological assessment revealed Lyme disease that responded well to treatment. This observation highlights the importance of investigating Lyme disease in cases of unexplained ocular involvement to initiate antibiotic treatment in order to prevent severe and late manifestations of the disease

Late-Onset Fibrodysplasia Ossificans Progressiva (FOP) or Munchmeyer’s Disease: A Case Report and Review of Clinical and Radiological Features

Fibrodysplasia ossificans progressive (FOP) is a rare variety of myositis ossificans characterized by congenital malformations of the great toes and progressive heterotopic ossification that can induce a disabling second skeleton. We report a case of a 37-year-old female patient with late-onset Fibrodysplasia Ossificans Progressiva (FOP), presenting with disabling ankylosis and progressive heterotopic ossification since adolescence following trauma. The report outlines the clinical, radiological, and evolutionary aspects of FOP, with a focus on the diagnosis through classic congenital malformations of the toes and progressive ossification patterns. The paper underscores the challenges of managing such a rare disease, where early diagnosis and genetic confirmation are crucial for prognosis

Hematological and Biochemical Changes in Leptospirosis Patients: A Case Series

Introduction: Leptospirosis is a zoonotic bacterial disease prevalent in Sri Lanka with significant hematological and biochemical presentations. Early diagnosis is hindered by the lack of confirmatory investigations, hence Full Blood Count (FBC), Renal Function Tests (RFT), and inflammatory markers are important in following disease status. The importance of FBC, RFT, and inflammatory markers such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) is indeed crucial, particularly in resource-constrained environments. They are inexpensive and easily accessible and provide critical information for early diagnosis of the disease and control of conditions such as leptospirosis. Early management of hematological and biochemical derangements is of utmost importance since it can significantly decrease morbidity and mortality. The current study analyzes hematological and biochemical patterns in leptospirosis patients to identify prognostic markers. Methods: Retrospective case series was conducted in six patients with confirmed leptospirosis in a tertiary care facility. Serial white blood cell (WBC) counts, hemoglobin (HGB), platelet count, serum creatinine, blood urea nitrogen (BUN), CRP, and ESR were compared. Statistical correlation between platelet recovery, renal function improvement, and resolution of inflammatory markers was assessed. Results: The common trends included an initial leukocytosis, worsening thrombocytopenia, renal impairment, and elevated CRP and ESR. Severe presentations involved worsening thrombocytopenia and renal function requiring intensive care. Statistical analysis revealed  platelet recovery and improvement in renal function to be highly correlated (r = 0.85, p < 0.01) and resolution of inflammatory markers to be highly correlated with clinical outcome (r = 0.77, p < 0.05). Discussion: This study underscores the prognostic significance of serial haematological and biochemical monitoring in leptospirosis. FBC, RFT, CRP, and ESR are inexpensive tools in resource-limited settings for risk stratification and early management of the disease. Conclusion: Routine monitoring of hematological and biochemical parameters is necessary to assist in challenging clinical decisions regarding leptospirosis, improve patient outcomes, and better use scarce resources in endemic areas