Patient: Male, 16-year-old Final Diagnosis: Idiopathic intracranial hypertension • lupus anticoagulant-hypoprothrombinemia syndrome • pseudotumor cerebri • systemic lupus erythematosus Symptoms: Arthralgia • bleeding • epistaxis • headache • hematuria • visual acuity loss Medication: — Clinical Procedure: — Specialty: Hematology • Rheumatology Objective: Rare disease Background: Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is an exceptionally rare disease caused by prothrombin antibodies, resulting in reduced factor II levels. This disease can present with significant bleeding and is usually associated with autoimmune disorders, particularly systemic lupus erythematosus (SLE). There are currently no guidelines for the treatment of LAHPS, and corticosteroids remain the criterion standard therapy. Pseudotumor cerebri is a disease that involves an idiopathic rise in intracranial pressure in association with papilledema. The coexistence of pseudotumor cerebri with SLE is rare, with an overall incidence of 0.7%. Case Report: A 16-year-old male initially presented to our hospital with nausea, headaches, and decreased visual acuity. He was diagnosed with pseudotumor cerebri based on the findings of papilledema and a raised opening pressure on lumbar puncture. Three months later, he presented with macroscopic hematuria and persistent epistaxis. Further investigation revealed a prolonged activated partial thromboplastin time and prothrombin time, along with positive LA and reduced Factor II levels, resulting in a diagnosis of LAHPS. The patient received a dose of 1 mg/kg/day of prednisolone along with hydroxychloroquine, and he had a complete recovery with cessation of bleeding and normalization of laboratory parameters. Conclusions: We are reporting a case of pseudotumor cerebri with a further presentation of LAHPS in a patient found to have SLE. As both associations are rare in the presence of SLE, it is vital to recognize them early to initiate adequate management and intervention to avoid life-threatening complications.
All currently approved COVID-19 vaccines utilize the spike protein as their immunogen. SARS-CoV-2 variants of concern (VOCs) contain mutations in the spike protein, enabling them to escape infection- and vaccination-induced immune responses to cause reinfection. New vaccines are hence being researched intensively. Studying SARS-CoV-2 epitopes is essential for vaccine design, as identifying targets of broadly neutralizing antibody responses and immunodominant T-cell epitopes reveal candidates for inclusion in next-generation COVID-19 vaccines. We summarize the major studies which have reported on SARS-CoV-2 antibody and T-cell epitopes thus far. These results suggest that a future of pan-coronavirus vaccines, which not only protect against SARS-CoV-2 but numerous other coronaviruses, may be possible. The T-cell epitopes of SARS-CoV-2 have gotten less attention than neutralizing antibody epitopes but may provide new strategies to control SARS-CoV-2 infection. T-cells target many SARS-CoV-2 antigens other than spike, recognizing numerous epitopes within these antigens, thereby limiting the chance of immune escape by VOCs that mainly possess spike protein mutations. Therefore, augmenting vaccination-induced T-cell responses against SARS-CoV-2 may provide adequate protection despite broad antibody escape by VOCs.
Brugada syndrome is an inherited cardiac channelopathy arising from mutations in voltage-gated cardiac sodium channels. Idiopathic epilepsy portrays a coalescent underlying pathophysiological mechanism pertaining to the premature excitation of neuronal voltage-gated ion channels resulting in the disruption of presynaptic neurons and the unregulated release of excitatory neurotransmitters. The coexistence of epilepsy and Brugada syndrome may be explained by mutations in voltage-gated ion channels, which are coexpressed in cardiac and neural tissue. Moreover, the incidence of sudden unexpected death in epilepsy has been associated with malignant cardiac arrhythmias in the presence of mutations in voltage-gated ion channels. Lamotrigine is an antiepileptic drug that inhibits neuronal voltage-gated sodium channels, thus stabilizing neural impulse propagation and controlling seizure activity in the brain. However, lamotrigine has been shown to inhibit cardiac voltage-gated sodium channels resulting in a potential arrhythmogenic effect and the ability to unmask Brugada syndrome in genetically susceptible individuals. We are reporting a case of a 27-year-old male patient with a background of presumed idiopathic epilepsy who was initiated on lamotrigine therapy resulting in the unmasking of Brugada syndrome and the onset of syncopal episodes. This case provides further evidence for the arrhythmogenic capacity of lamotrigine and highlights the relationship between epilepsy and Brugada syndrome. In this report, we aim to review the current literature regarding the associations between epilepsy and Brugada syndrome and the impact of lamotrigine therapy on such patients.
Patient: Female, 30-year-old Final Diagnosis: Erdheim-Chester disease Symptoms: Abdominal pain • fatigue Medication: — Clinical Procedure: — Specialty: Hematology Objective: Rare disease Background: Erdheim-Chester disease (ECD) is a clonal disease characterized by histiocytic infiltration of multiple organ systems. As ECD is a rare disorder with variable presentations, its diagnosis and management can present a significant clinical challenge. The diagnosis of ECD requires several clinical, radiological, and histological criteria. Since approximately 75% of ECD patients harbor a mutation in the proto-oncogene BRAF V600E , inhibition of BRAF activation by BRAF inhibitors has significantly improved the management of ECD. Vemurafenib was approved by the U.S. Food and Drug administration for treatment of BRAF -mutated ECD. Another BRAF inhibitor, dabrafenib, has been used in some cases as a single agent and was associated with a lower toxicity profile. Case Report: We report the case of a 30-year-old Saudi Arabian woman who initially presented with a history of diffuse abdominal pain and fever. The patient had elevated inflammatory markers, and radiological investigations revealed hypermetabolic regions in the frontoparietal brain lobe, anterior pericardium, kidneys, and the anterior abdominal wall. Histological investigations from the right perinephric soft-tissue mass revealed foamy histiocytes associated with mild chronic inflammation. Furthermore, BRAF V600E was mutated in the biopsy sample, leading to a diagnosis of BRAF -mutated ECD. The patient began single-agent dabrafenib therapy at 75 mg twice daily and experienced an excellent clinical and radiological response with no reported toxicity. Conclusions: Single-agent dabrafenib is effective and well tolerated among ECD patients; therefore, it might be considered as a first-line option for the treatment of BRAF -mutated ECD.
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