Year 2025, Volume 9 - Issue 6

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.

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 further characterize these findings, a whole-body CT scan was performed, confirming the presence of similar lesions in multiple skeletal sites. Genetic analysis subsequently identified a novel mutation in the LEMD3 gene. Based on these clinical, radiologic, genetic findings, a diagnosis of OPK was established.

Conclusion: A previously unreported splicing mutation in the LEMD3 gene was identified in a young, asymptomatic male patient with OPK. The diagnosis was made incidentally during routine imaging following a car accident, highlighting the typically silent clinical course of OPK and the importance of imaging in uncovering such skeletal disorder. This novel mutation expands the known mutational spectrum of LEMD3-related bone disorders.

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 with outpatient monitoring. The symptoms decreased after the final antibiotic and corticosteroid therapy.

Conclusion: This case report emphasizes the importance of considering TB as a potential cause of unexplained, recurrent PE in an immunocompetent patient from a non-endemic area, as stated in the guidelines. Especially in an increasingly intercontinental world. Early testing can expedite the start of treatment, reducing complications, invasive procedures, and improving outcomes.

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 right
coronary sinus, accompanied by a bicuspid aortic valve and high-origin right coronary artery. All patients underwent successful surgical repair with complete resolution of symptoms, no postoperative complications, and normalized cardiac function confirmed on follow-up imaging.

This case series aims to highlight the diverse clinical presentations, timely diagnosis, and successful management of SOVA, a rare but potentially serious cardiac condition.

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, and multi-suture synostosis. With financial constraints, confirmatory genetic testing, enzyme replacement therapy (ERT), and gene therapy were not accessed, leading to symptomatic management instead. Hunter syndrome is underdiagnosed and underreported in Nigeria, primarily due to insufficient clinical awareness, lack of newborn screening, and financial barriers to diagnostic and therapeutic access. This case series highlights the urgent necessity for enhanced awareness among healthcare providers, early identification of clinical features, and advocacy for accessible genetic testing and ERT. International collaborations are essential for optimizing care and improving outcomes for individuals affected by rare genetic disorders in low-resource environments.