RESUMEN
Li-Fraumeni syndrome (LFS) is an inherited genetic condition that makes individuals predisposed to specific types of cancer. As a result, cancer risk can be passed down from generation to generation. TP53 is the genetic blueprint for a protein called p53 and most commonly causes this condition by mutations or alterations in that gene. Mutations prevent the gene from functioning properly. LFS is associated with TP53 gene mutations in approximately 70% of families. Most patients with LFS have one normal copy of TP53 and one mutated copy of TP53, usually inherited from a parent with the condition. This is a case report of a 40-year-old female who underwent genetic testing to determine her p53 mutation status. Her mother was diagnosed with breast cancer at a young age, despite the fact that her brothers and sisters' genetic tests came out normal. The genetic testing showed her as a carrier for the TP53 gene mutation. Despite the fact that she had no signs or symptoms of any linked tumors associated with the condition, she was diagnosed with LFS.
RESUMEN
Cerebral malaria (CM) is a severe infection of the brain caused by the parasite Plasmodium falciparum. It is commonly found as a complication of infection traveling to the brain. CM has a poor prognosis unless promptly identified and treated. This case report describes a 15-year-old girl who suddenly started experiencing a tonic-clonic seizure while playing. At the time of arrival at the emergency department, her vital signs were consistent with shock. She had hepatomegaly on physical examination, a hallmark of malarial infection due to an immune response against the proliferation of the protozoa. Peripheral blood smear for malaria parasites was positive for P. falciparum and P. vivax. The patient was started on intravenous (IV) saline, IV phenytoin, and IV metoclopramide. She was also transfused with two units of packed red blood cells. The patient was subsequently diagnosed with CM. For most patients, the course of treatment includes aggressive therapy with anti-malarial medications. She was started on broad-spectrum antibiotics and anti-malarial medications. Following two weeks of treatment, her condition improved significantly and she was discharged.
RESUMEN
In amaurosis fugax, there is a sudden loss of vision in one eye. Patients gain their vision after a few minutes. The most common underlying cause is atherosclerosis of the internal carotid artery. Other underlying causes include vasospasm of the internal carotid artery, which leads to hypoperfusion and is seen in vasculitis, ocular migraines, and systemic lupus erythematosus. In this case study, a 44-year-old male with a past medical history of migraine with aura presented to the emergency room with transient vision loss in the left eye, which lasted for two minutes. A computed tomography scan of the brain was negative for stroke. The patient was treated with intravenous fluid, aspirin, and enoxaparin sodium and instructed to follow up with neurology. A medical emergency such as amaurosis fugax caused by ocular migraine must be managed aggressively, and prompt imaging is necessary to exclude other causes.
RESUMEN
Emphysematous pyelonephritis (EPN) is a severe, necrotizing infection of the renal parenchyma. It is commonly found as a complication of uncontrolled diabetes mellitus (DM). EPN has a terrible prognosis unless promptly identified and treated. In this case study, a 38-year-old man with type 2 diabetes mellitus (T2DM) was admitted due to complaints of excruciating abdominal pain, vomiting, and non-adherent to his insulin medication. The patient was subsequently diagnosed with EPN. For most patients, the current course of treatment includes nephrectomy along with antimicrobial medications. In this case report, however, the patient improved with conservative treatment such as IV fluids, antibiotics, and blood glucose control.