Case Reports in Medicine最新文献

Granulomonocytapheresis (GMA) is an effective treatment for inducing remission in patients with refractory ulcerative colitis (UC). Furthermore, GMA has very few side effects and can be performed without using drugs except anticoagulants. However, GMA is sometimes challenging to perform, especially in children, as it usually requires securing two blood vessels. We attempted GMA by the single-needle method in a girl with UC, which is performed by securing only one blood vessel. In the present case, GMA could be performed 10 times without any side effects. Our case shows that GMA with the single-needle method was feasible in children with UC.

Amyloidosis is an underappreciated medical condition with symptoms camouflaging as common medical comorbidities leading to its underdiagnosis due to its systemic involvement. Despite common misconceptions, amyloidosis and its systemic comorbidities are more prevalent and treatable than previously acknowledged by the medical community. There are two major forms of amyloidosis: amyloid light-chain and transthyretin amyloidosis. Each of these have a distinct pathophysiology, diagnostic work-up, treatment, and prognosis. The patient described in this study was diagnosed with transthyretin cardiac amyloidosis months after presenting with heart failure of unknown etiology. Usually, clinicians presume that heart failure results from common comorbidities such as hypertension, diabetes, and hyperlipidemia. Here, the correct etiology was transthyretin cardiac amyloidosis. The patient had five admissions for heart failure symptoms prior to a physician identifying the etiology as cardiac transthyretin amyloidosis. After initiating the transthyretin stabilizer tafamidis, the patient did not experience another heart failure exacerbation. This vignette provides an example of the clinical presentation, diagnostic work-up, and treatment of a patient with cardiac transthyretin amyloidosis. The review of the literature focuses on the epidemiology, and clinical symptoms that should prompt an evaluation for cardiac amyloidosis as well as the diagnostic and therapeutic options are available. Transthyretin cardiac amyloidosis is a rare and underdiagnosed disease, while heart failure is a highly prevalent condition. This clinical vignette seeks to provide education and awareness to an overlooked medical disorder.

Introduction: Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy due to an acquired autoantibody to ADAMTS13 that requires a boutique treatment, urgent plasma exchange. Thus, TTP is often termed a "cannot miss" diagnosis.

Case: We report a patient with TTP who had a history of immune thrombocytopenia (ITP), had atypical demographics for TTP, and had also met criteria for primary Sjogren's syndrome. This exceedingly rare combination presented a temptation to dismiss TTP as a diagnosis. Discussion. Our case further demonstrates the practical utility of using the PLASMIC score as a tool that can help identify patients with TTP even when the patient has statistically rare characteristics.

Advanced heart failure patients commonly suffer from ventricular arrhythmias which can be managed by antiarrhythmic drugs like mexiletine. These ventricular arrhythmias can be complicated by illicit drug use which alter outcomes and can potentially impact the patient-physician relationship through countertransference. However, mexiletine can lead to false positive urine drug screen testing for amphetamine, and these false-positive urine drug screen test results can affect the decision-making process. Health care providers should be aware of this fact and should either use confirmatory testing or look for confounding compounds in patients who deny using illicit substances and have a positive urine drug screen. Our patient is 64 years old who arrived at the emergency department after experiencing a shock by his intracardiac defibrillator. The patient tested positive for amphetamine on his urine drug screen and was later ruled out by confirmatory quantitative testing.

Rectal foreign body insertion has had an increasing trend throughout the years, whereas it is rarely reported in pediatrics. The management and treatment of these cases can become challenging, since it also can present with atypical or even no symptoms in physical evaluation. A 14-year-old boy was referred to our hospital with a history of insertion of a paintbrush into his anus four weeks before the admission. The paintbrush had perforated the colon and was in the abdominopelvic cavity; however, no symptoms of peritonitis were observed. Rectal examination, sigmoidoscopy, and colonoscopy were unremarkable. Exploratory laparoscopy was performed, and the paintbrush was taken out completely. The patient was discharged in good condition. In cases with rectal foreign body insertion, perforation without causing peritonitis or acute abdomen is possible. In these conditions, imaging examinations play an essential role in managing the patients, and laparoscopy can be a proper procedure for retrieving the foreign body.

Leigh syndrome is a neurodegenerative disorder with an incidence of 1 : 40,000 live births. The clinical presentation of LS is highly variable with heterogeneity in the disease-associated symptoms of cerebellar, motor, and extrapyramidal dysfunction and common infections. There is no effective treatment for this condition; as such, the prognosis of this condition is very poor with death occurring within the first few years of life. In this study, we report the first LS case in Latvia with SURF1 pathogenic variants in two siblings. The difficulties encountered establishing a diagnosis for the first proband and the effective prenatal diagnosis for the second offspring that led to termination of the pregnancy are discussed.

Euglycemic diabetic ketoacidosis (EDKA) is a rare and serious adverse effect of sodium-glucose cotransporter 2 inhibitors (SGLT-2i). The diagnosis is challenging due to the rarity, nonspecific symptoms, and absence of the alarmingly high blood glucose levels, and thus, it could be initially missed resulting in delayed treatment. This is particularly important for sedated patients, as the absence of typical clinical signs and symptoms can obscure the diagnosis. We present the case of a patient with type 2 diabetes mellitus on empagliflozin who developed EDKA while sedated after coronary artery bypass grafting (CABG) despite stopping the medication 24 hours prior to surgery. We also summarize the current literature on EDKA after CABG. Physicians must be aware and maintain a high index of suspicion for the illness, especially in patients with T2DM taking SGLT-2i and undergoing a major operation such as CABG. Emergent treatment and multidisciplinary follow-up are needed to improve patient outcomes and mitigate complications. Physicians should also consider identifying the optimal time to discontinue SGLT-2i before major surgeries and possible ketone studies in such patients, especially those sedated following the surgery.

A 26-year-old male presented to the emergency department feeling unwell in February of 2021 with symptoms including diaphoresis, loose stools, and loss of taste sensation. Workup not only confirmed a diagnosis of COVID-19 but also revealed discordant HIV test results, with a reactive fourth-generation antigen/antibody test but a negative HIV-1/2 differentiation immunoassay. Subsequent HIV viral load testing obtained two days later ultimately established a diagnosis of acute HIV (AHI). Screening for HIV and other sexually transmitted infections decreased during the COVID-19 pandemic. It is critical that providers (1) continue recommended screening for HIV as an essential service; (2) consider acute HIV in the differential when evaluating patients with acute viral syndromes; (3) recognize that AHI can occur concurrently with other infections, including COVID-19; and (4) understand the differential diagnosis for discordant HIV test results and know when HIV viral load testing is needed to resolve such discordant results.

Chronic uncontrolled type 1 diabetes mellitus (type 1DM) is a very major risk for chronic systemic complications; specifically, the microvascular and macrovascular ones. Limited joint mobility (LJM) is a rare disease that complicates all types of diabetes and might indicate the high-risk odd for the diabetic patients to develop microvascular complications. We are reporting a 13-year-old female child with chronic uncontrolled type 1DM presenting with full blown clinical picture of bilateral hand LJM associated with significant growth failure yet has no clinical or biochemical evidence of microvascular complications. Literature research studies have emphasized the rarity of this manifestation in pediatric type 1 diabetic patients; however, it is an important clue and warning sign for microvascular complication occurrence in these patients.

Background: Stroke is a rare complication of COVID-19. Post-COVID-19 stroke occurs mainly in older patients who have preexisting vascular risk factors. Most strokes are possibly related to hypercoagulability associated with COVID-19 where elevated D-dimer levels were the most common finding. In this case, post-COVID-19 ischemic stroke occurred in a relatively young patient without preexisting cerebrovascular risk factors which were rarely reported before. Case Presentation. A 40-year-old male presented lack of concentration, sluggish mind, and forgetfulness. The patient has a positive COVID-19 history 5 weeks ago. The noncontrast MSCT scan confirmed multifocal lacunar cerebral infarction on the left lateral ventricle. Laboratory tests showed an increase in D-dimer of 1.22 g/ml.

Conclusion: In COVID-19 patients without comorbidities, ischemic stroke should be considered.