Year 2025, Volume 9 - Issue 6

Immunosuppressant therapyinduced posterior reversible encephalopathy syndrome: an emerging cause, a rare case report
Vinay Kumar Rastog , Paras Passi , Shashank Sadhwani , Prashant Surolia
Year: 2025
Background: Posterior reversible encephalopathy syndrome (PRES) is an acute or subacute cerebral syndrome, the main manifestations of which are headache, encephalopathy, seizures, or visual disturbances in various combinations; this case describes PRES related to drugs and toxic agents.   Case Presentation: We present a case of a 61-year-old female with a history of rheumatoid arthritis, hypothyroidism, dyslipidemia, and drug-induced neutropenia who developed PRES following the use of tab leflunomide. The patient presented with intense generalized itching, erythematous rash, and acute headache, progressing to confusion. Neuroimaging revealed leptomeningeal enhancement in the parieto-occipital regions, consistent with PRES. Prompt treatment with pulse steroid therapy, antihypertensive, and discontinuation of the tab leflunomide led to complete recovery. Conclusion: This case highlights the importance of early recognition and management of triggering agent causing PRES in patients with autoimmune diseases on immunosuppressant therapy. Continue Reading

A Rare Variant of Osteopoikilosis: A Case Report
Filippo Spiezia , Giulio Botonico , Marilena Carmela Di Giacomo , Flavia Carriero , Filippo Migliorini , Giuseppe Terrazzano
Year: 2025
Background: Osteopoikilosis (OPK) is a rare benign bone disorder, inherited in an autosomal dominant pattern. Also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, consisting in hyperostotic areas in periarticular osseous regions. Clinically, OPK is often asymptomatic or associated with mild, nonspecific symptoms, such as diffuse bone pain. Diagnosis is usually incidental and readily made through plain radiography, which reveals characteristic multiple small, round or ovoid sclerotic lesions. The condition has been linked to heterogeneous mutations in the LEMD3 gene. Case presentation: A 17-year-old male patient presented with an index finger fracture following a motor vehicle collision. He reported no history of bone pain, polyarthralgia, or involvement of either large or small joints. There were no complaints of prior skin lesions, nor were any observed upon hospital admission. Radiologic examination of the wrist revealed numerous, well-defined, symmetric sclerotic lesions, localized in the area of the fracture. To... Continue Reading

Tuberculosis as the cause of recurrent pericardial effusion: a case report
Pim S van Sambeeck , Cynthia van Arkel , Stefan M van der Heide , Leen AFM van Garsse
Year: 2025
Background: Pericardial effusion (PE), affecting approximately 3% of the Western population, has diverse aetiologies including heart failure, malignancy, autoinflammatory, metabolic, or microbiological diseases, and can be induced by trauma or drugs. Guidelines suggest early tuberculosis (TB) testing in patients with PE. However, clinicians in Western Europe often overlook this diagnosis. Therefore, the aim of this report is to emphasize the importance of considering this diagnosis. Case Presentation: A 72-year-old woman, with a history of aortic valve replacement, was referred for episodes of PE without diagnosis, severe tricuspid insufficiency, and an atrial flutter. PE resisted high-dose anti-inflammatory treatment for sterile pericarditis after ruling out cardiac, banal bacterial, malignant, and autoimmune causes. She underwent surgical tricuspid valve repair with isthmus ablation, and bilateral pericardiopleural windows were created. TB was confirmed via QuantiFERON test and polymerase chain reaction of the pericardial fluid obtained during surgery. Antibiotic and corticosteroid treatment for TB was started... Continue Reading

Timely CT-guided diagnosis and surgical management of sinus of Valsalva aneurysm: A case series highlighting promising outcomes
Lakkaraju Vijay Kumar , Rallabandi Suresh Kumar
Year: 2025
A sinus of Valsalva aneurysm (SOVA) is a rare cardiac condition characterized by an abnormal dilation of the aortic root between the aortic valve annulus and the sinotubular junction. A ruptured SOVA can be identified through various diagnostic tools, including echocardiography, cardiac computed tomography (CT), and cardiac magnetic resonance imaging. Here, we present a case series of three patients with SOVA who were promptly diagnosed via CT and successfully managed, leading to significant symptom relief for the patients. Each case in this series presented unique clinical features: the first, an asymptomatic 51-yearold female with two saccular aneurysms incidentally found during preoperative evaluation; the second, a 36-year-old male with atypical chest pain and a large ventricular septal defect associated with right coronary cusp prolapse and mild aortic regurgitation; and the third, a 24-year-old male with severe tricuspid regurgitation due to a ruptured aneurysm from the rightcoronary sinus, accompanied by a bicuspid... Continue Reading

Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria
Amalachukwu Okwukweka Odita , Ekene Fidelis Enema , Ngozi Ojinnaka
Year: 2025
Hunter syndrome (MPS-II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, resulting in glycosaminoglycan (GAG) accumulation and multisystem dysfunction. It predominantly affects males, leading to skeletal deformities, neurocognitive decline, organomegaly, and distinctive facial features. The impact of Hunter syndrome in Nigeria and resource-limited settings is far-reaching due to diagnostic obstacles, underreporting, and limited access to specialized care. This report elucidates the clinical presentation, diagnostic difficulties, and management of two siblings diagnosed with Hunter syndrome in Southeast Nigeria years after the onset of symptoms. Their clinical histories, physical examinations, laboratory investigations, and treatment modalities were systematically documented and analyzed. Both siblings displayed characteristic clinical features of Hunter syndrome: coarse facial features, macroglossia, skeletal deformities, hepatosplenomegaly, and developmental regression. The older sibling had a more severe expression of the disorder. Urinary GAG levels, particularly heparan sulfate, were elevated with significantly reduced iduronate-2-sulfatase levels. Cranial imaging showed cerebral atrophy, hydrocephalus,... Continue Reading