AME Case Reports最新文献

Background: Mild cognitive impairment (MCI) is a condition often preceding Alzheimer's disease and other dementias, characterized by subtle changes in cognitive function. While the importance of early detection is recognised, MCI is frequently underdiagnosed, especially when patients consult primary care physicians for non-cognitive health concerns. The case series aims to investigate the incidental identification of MCI in older patients who visit primary care settings for reasons unrelated to memory issues.

Case description: This is a retrospective case series comprising eight patients, ranging in age from 67 to 77 years, who initially presented in primary care settings for diverse non-memory-related concerns such as headaches, urinary tract infection (UTI) symptoms, and knee pain. Despite the lack of memory-related complaints, incidental findings suggestive of MCI were observed during clinical evaluations. The study explores the distinctions in clinical presentations and diagnostic pathways through thorough history taking and cognitive assessments, including the Montreal Cognitive Assessment (MoCA) and brain magnetic resonance imaging (MRI).

Conclusions: The study highlights the critical role that primary care settings can play in the early detection of MCI, even when patients present with non-cognitive complaints. It emphasizes the importance of comprehensive history taking as a tool for incidental identification of cognitive impairment. Although limited by sample size, the study calls for increased vigilance in primary care settings and suggests the need for future research aimed at optimizing early detection and management strategies for MCI in a primary care context.

Background: Meckel's diverticulum (MD) is the most common congenital defect of the gastrointestinal tract, occurring in about 1% to 2% of population. Most MD are rarely symptomatic, with presenting symptoms including diverticulitis, digestive tract hemorrhage and intestinal obstruction. The semblance of symptoms to enteritis and appendicitis makes preoperative diagnosis challenging. Current diagnosis of MD includes technetium-99m pertechnate scan, laparoscopic or intraoperative findings and examining surgical specimens. Here, we report that a double-balloon enteroscopy (DBE) improves the diagnosis accuracy of MD and presents high clinical application value.

Case description: A 12-year-old male patient was admitted to our hospital due to recurrent abdominal pain and black stools for more than half a year, recurrence for 2 days, accompanied by vomiting. The boy had anemic appearance, with periumbilical tenderness, and no mass was detected upon palpations. Past medical records revealed recurrent abdominal pain episodes thrice. Pre-surgery ⁹⁹Tc^mO₄-single-photon emission computed tomography/computed tomography (SPECT/CT) imaging was performed but did not reach the condition for diagnosis of MD. DBE was then performed and identified an upper ileum mass. After surgery, it was confirmed that the patient was an inverted MD, and the pathology showed gastric mucosa and pancreatic tissue. The patient recovered well after surgery and was discharged.

Conclusions: DBE is not widely used in the diagnosis of MD, but its accuracy is higher than that of radionuclide scanning imaging. In addition, several advantages such as hemostasis treatment, direct detection and observation of the diverticulum, and demarcation of the site and scope of the lesion prior to surgery brings high clinical application value.

Background: Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease, and one of the main complications of RA is osteoporosis, which can cause osteoporotic vertebral compression fractures (OVCFs) that lead to low back pain and spinal deformation. For RA patients with OVCFs, the symptoms of osteoporosis are more severe, if surgical treatment is to be carried out, it is important to focus on the treatment of osteoporosis caused by RA.

Case description: We report a case of a 68-year-old woman with RA and successional osteoporotic vertebral body fractures treated by percutaneous vertebroplasty (PVP) and percutaneous kyphoplasty (PKP). The patient experienced spontaneous multiple OVCFs on three occasions: in the course of 5 months, she underwent one PKP and two PVP operations with five cement-augmented vertebrae from the first to fifth lumbar vertebrae. The mean interval between each operation was 75 days (range, 2-3 months). The case report makes us look into the treatment of each stage and think about the reasons, we reviewed the literatures on advancements in the treatment of OVCFs caused by RA, so that we can choose a better method for similar patients in the future.

Conclusions: For OVCFs secondary to RA without neurological damage, if we carry out surgical treatment, the systematic treatments, including RA treatment, pain management, brace treatment, and anti-osteoporosis measures are important. among them, anti-osteoporosis treatment has the highest priority because of the reversible nature of osteoporosis caused by RA.

Background: Breast cancer has a high incidence and is prone to metastasis, while isolated liver metastasis is rare. A growing body of evidence supports the effectiveness of treating breast cancer with anti-human epidermal growth factor receptor-2 (HER2) therapy in combination with chemotherapy. However, little is known about its impact on metastatic liver disease. There is also a lack of consensus on managing liver metastases from breast cancer, and no studies have been conducted on managing the disappearance of liver metastases after treatment.

Case description: In May 2021, a 51-year-old female patient with HER2-positive breast cancer with isolated liver metastases had immunohistochemistry of estrogen receptor (ER) (-), progesterone receptor (PR) (-), and HER2 (3+) for both her primary lesion and liver metastases. After undergoing 17 cycles of anti-HER2 therapy and chemotherapy, the patient expressed a desire for surgery. Then a preoperative examination was performed, which revealed the disappearance of both the primary breast lesion and the liver metastases. Immediately afterwards, a left mastectomy was performed, and postoperative pathology showed a complete response to the breast tumor. As for the liver, where the metastatic lesions disappeared, no relevant study has reported how to deal with this situation. Finally, after a hospital-wide discussion, the patient was given trastuzumab maintenance therapy. Until now, no obvious signs of recurrence or metastasis have been observed during regular follow-ups.

Conclusions: This case suggests that maintenance therapy may be the best option for patients with breast cancer whose liver metastases disappear by medication. Also, it can be inferred that in HER2-positive metastatic breast cancer (MBC), patients with isolated liver metastases may be more likely to achieve a cure-like outcome. Nevertheless, more cases and follow-up information are needed to support these views.

Background: As surgical recommendations in adults based on size criteria of ascending aortic aneurysms become more refined, criteria for childhood/adolescence remains less clear. Multiple pathologic factors may predispose younger patients to thoracic aortic aortopathy and increase the risk of rupture. An evolving field of research is how to identify thoracic aortic dilation earlier in patients, risk stratify, and to obtain objective measures beyond size for proceeding with surgical intervention in order to prevent catastrophic thoracic aortic dissection.

Case description: We report an adolescent case of dilated ascending aortic aneurysm with a functionally unicuspid/bicuspid aortic valve. This patient was taken to surgery electively, given the gradual increasing size of the ascending aorta. Intraoperatively, there was an unexpected intraoperative finding of a contained aortic rupture. The patient underwent an aortic root replacement with mechanical valve composite graft and coronary artery reimplantation (modified Bentall) with ascending hemiarch replacement. The patient did well with no post-operative complications. Aortic pathology and genetic analysis were performed. The patient was discovered to have a heterozygous variant in PTPN11 which is typically associated with Noonan syndrome; however, this is not known to be associated with aortopathy.

Conclusions: As criteria for surgical intervention in adult thoracic ascending aortic aneurysms continues to evolve, this case illustrates challenges when determining the optimal criteria for surgical intervention in adolescent patients.

Background: Multi-gene panel testing and advancements in molecular targeted therapy have improved the overall survival of patients with driver mutation-positive non-small cell lung cancer (NSCLC). Mesenchymal-epithelial transition factor (MET) exon 14 skipping mutation-positive NSCLC, which remains untreated with MET inhibitors, shows a poorer prognosis than do cases of NSCLC without MET mutations. However, serious treatment-related adverse events (TRAEs) act as substantial treatment barriers.

Case description: Herein, we report a case of advanced NSCLC in a male in his 40s with MET exon 14 skipping mutation. A MET-inhibitory investigational drug was administered as first-line treatment; the development of grade 3 maculopapular rash necessitated dose reduction, which resulted in disease progression. Tepotinib was then administered with dexamethasone as a third-line treatment but was discontinued owing to the re-development of the grade 3 maculopapular rash. Finally, capmatinib administration as the fifth-line treatment appeared partially effective, with no serious adverse events. The patient could successfully resume work.

Conclusions: This is the first report of MET exon 14 skipping mutation-positive NSCLC wherein partial response was achieved without severe TRAEs by alternating between two MET inhibitors. If no alternative treatments are available, cautious repeated re-administration of MET inhibitors after resolving serious rashes can be considered a potential approach.

Background: Intragastric balloon (IGB) insertion is a safe and effective method for the treatment of obesity. The most common side effects of the balloon-therapy are nausea/vomiting and abdominal pain, acute pancreatitis has rarely been reported.

Case description: We present the case of a 28-year-old woman who underwent IGB insertion 9 months before onset of intense upper abdominal pain. We confirmed the diagnosis of acute pancreatitis by means of clinical symptoms, serological tests and cross-sectional imaging. Endoscopic removal of the balloon led to a complete resolution of the symptoms. Initial laboratory parameters were normal on admission, only the control of lipase and amylase levels led us to the diagnosis of pancreatitis. On imaging with computed tomography, the filling catheter of the balloon showed to be dislodged in the duodenum. After carrying out a systematic approach, other causes of pancreatitis were ruled out.

Conclusions: Laboratory tests including amylase/lipase and adequate imaging should be considered in patients with relevant symptoms after gastric balloon insertion. A possible pathogenesis may be the direct compression and traumatic effect on the pancreas by the balloon or the dislodgement of the catheter into the duodenum and an obstruction/compression of the Papilla. Endoscopic removal of the balloon is not mandatory in every case, it should be decided individually.

Background: The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) at the end of 2019 caused the global pandemic. Oral and dermatological manifestations of coronavirus disease 2019 (COVID-19) such as xerostomia, aphthous-like lesions, ulcers, tongue depapillation, necrotizing gingivitis, and taste disorders, including the loss of taste and salivary gland infections are being reported. This study aims to describe a case of oral ulcers following COVID-19 infection.

Case description: We present the case of a 95-year-old male patient hospitalized in follow-up care and rehabilitation unit, of Minimes Geriatric Clinic, Toulouse, France. He had an alteration in his general health in the context of COVID-19 infection detected by reverse transcription polymerase chain reaction (RT-PCR). Six days after the admission, the patient complained of a strong burning sensation of the mouth, especially on the tongue and the lips' mucosa. Intraoral examination revealed painful erosive areas on the lateral edges of the tongue and the mucous side of the lower lip. The proposed treatment to reduce the burning sensation was based on general analgesics (morphine sulfate), mouthwash with sodium bicarbonate, the application of a lidocaine-based oral anesthetic and healing gel and a comfort-oriented diet. Thirteen days later, the patient reported a gradual improvement.

Conclusions: A diverse range of oral manifestations has been observed in patients with a history of COVID-19 infection. These oral ulcers significantly impact the quality of life of the individual, causing intense pain, stress, and difficulties in eating, with repercussions on nutritional status, especially in older individuals. Our case underscores the importance of oral examinations and the role of dentists in the management of patients with SARS-CoV-2.

Background: Multicentric reticulohistiocytosis (MRH) stands as a rare and challenging systemic granulomatous disease characterized by its predilection for skin and joint involvement, confounding clinicians with its infrequent presentation and systemic manifestations.

Case description: This compelling case presentation unravels the intricate complexity of MRH, exemplifying its unique clinical course. Following mild upper respiratory coronavirus disease 2019 (COVID-19) symptoms, the patient manifested purplish-pink papular lesions on both the skin and mucosa, accompanied by debilitating arthralgias. A diagnostic skin biopsy, a pivotal tool in MRH diagnosis, confirmed the presence of this granulomatous disorder, underlining its systemic impact. Strategic therapeutic intervention involving a combination of steroids and methotrexate demonstrated remarkable efficacy, culminating in the resolution of symptoms within 3-month. The absence of malignancy upon thorough screening further amplifies the perplexing nature of MRH.

Conclusions: This seminal case not only bridges the realms of rare systemic disorders but also marks the first known instance of MRH emerging post-COVID-19. It underscores the imperative consideration of MRH in analogous scenarios and provides invaluable insights into the nuanced interplay of MRH symptoms, diagnosis, and therapeutic strategies following viral triggers. This comprehensive exploration enriches our scientific understanding, offering nuanced perspectives on the manifestations and intricate dynamics of MRH in the context of post-viral sequelae.

Background: A rare congenital malformation of the respiratory tract, bronchopulmonary sequestration (BPS), may present symptomatically early on in childhood or adolescent years. Adult BPS is typically an incidental finding found on thoracic imaging. There are currently four known types of BPS. Intralobar sequestrations (ILSs) are the most common of them and the most commonly reported form in literature. In our case report, we report of a healthy adult female who presented with hemoptysis that resulted in the diagnosis of the rarest form of BPSs; extralobar sequestration (ELS). One that is not commonly described in literature, especially of one reported in late adulthood. This case report aims to educate and elude clinicians to this rare cause as a differential and guidance on its investigation and management.

Case description: In this case report, a 56-year-old woman who presented to an outpatient respiratory clinic after being referred by her general practitioner (GP) of a queried BPS. A thorough workup was done by the respiratory team that derived at the final diagnosis of an ELS. The patient's autonomy was adhered to along with risks and benefits which resulted in a non-surgical approach to management. One that she remarkably achieved a resolution of her symptoms.

Conclusions: An awareness and familiarity of this rare disease, ELS, should prompt one to consider its' diagnosis when no other common causes are apparent. Often the diagnosis can be made radiologically. Treatment of ELSs should depend on multiple factors.