AME Case Reports最新文献

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.

Background: Candy cane syndrome (CCS) is a rare and underreported complication, seldom occurring after bariatric surgeries, especially, the Roux-en-Y gastric bypass (RYGB) type. It refers to an excessively long-blind end of the alimentary limb, usually at the gastrojejunal (GJ) junction, and to a lesser extent, can occur at the jejunojejunal (JJ) junction, that may cause symptoms including abdominal pain, regurgitation, nausea, vomiting and reflux. However, its diagnosis can be challenging and misleading.

Case description: A 34-year-old woman with a multiple past surgical history presented with small bowel obstruction (SBO) symptoms following a second gastric bypass surgery. An esophagogastroduodenoscopy (EGD) was inconclusive, then a computed tomography (CT) scan was done, which reported intussusception. The patient underwent laparoscopy, which revealed an anastomosis with an extra 14 cm of single-loop bowel near the JJ junction rather than intussusception, leading to a diagnostic laparoscopy followed by a mini-laparotomy procedure. Adhesiolysis followed by a resection of the elongated blind end was done, hence, the diagnosis of CCS was established. The patient tolerated the surgery with a complete resolution of her symptoms; no subsequent complications were reported.

Conclusions: The frequency of RYGB surgery and the number of past surgeries a patient might have undergone might correlate independently with the risk of developing CCS.

Background: Crusted scabies is a rare form of parasitic infection provoked by a massive infestation of the ectoparasite Sarcoptes scabiei varietas hominis on human skin. It is an extremely contagious type of disease and can even lead to a social stigma. In European countries like Greece, many cases remain undiagnosed for long periods, causing extreme distress in the patient's everyday life and social environment.

Case description: Herein, we present a case of an 86-year-old woman with crusted scabies in Greece, who remained undiagnosed for 5 months. Massive hyperkeratotic plaques on the extremities, and face, palmoplantar keratoderma, and numerous small erythematous papules on the torso with extreme itch were the main clinical manifestations of the patient. Dermoscopy revealed the parasite. All necessary decontamination measures were taken by personnel. Treatment was administered and a complete cure of the disease was observed.

Conclusions: In this case, the use of dermoscopy has attributed to precise crusted scabies diagnosis and acute pharmacological management of the patient. Early diagnosis of such diseases not only saves patients from lethal secondary infections, but also reduces the risk of a massive scabies outbreak. We also conducted a mini-review, analyzing all recent data concerning crusted scabies macroscopic, dermatoscopic, and histological images. All new information concerning the pathophysiological mechanism of crusted scabies manifestation, updated treatment options, and potential resistance to widely-used treatments are provided.

Background: Rudimentary horn pregnancy (RHP) is a special type of ectopic pregnancy and its pathophysiological basis is an abnormal fusion of the bilateral accessory mesonephric duct during the embryonic period. If sonographers lack experience to this disease, it is easily to be misdiagnosed in the early period, which often leads to rupture of the pregnant horn and life-threatening bleeding. Therefore, a high index of vigilance is required.

Case description: We present a case of a 27-year-old female who went to the department of emergency due to menopause, pelvic pain and elevated human chorionic gonadotropin (hCG) (above 200,000 IU/L). Sonographic examination showed uterus only had the right horn and endometrium was thickened about 1.7 cm without gestational sac (GS) in the uterine cavity. Besides, a 3.5×3.0 cm GS was found between the left ovary and corpus uteri. RHP was suspected by sonographer, and the patient underwent laparoscopy. Obstetricians and gynecologists removed the rudimentary horn and the left fallopian tube. The patient made a good recovery and was soon discharged home after surgery.

Conclusions: This article analyzed one case and summarized ultrasonic characteristics of RHP which may help to improve the early diagnosis of RHP. If necessary, other imaging such as magnetic resonance imaging (MRI) can be combined to make a clear diagnosis and treatment as soon as possible.