American Journal of Case Reports最新文献

BACKGROUND Ovarian torsion is a gynecological emergency characterized by rotation of an ovary around the infundibulopelvic and utero-ovarian ligaments, which leads to impaired venous and lymphatic drainage and, if prolonged, arterial obstruction with potential ischemic necrosis. The clinical presentation is often nonspecific, typically including acute lower abdominal pain, nausea, and vomiting, which can overlap with other abdominal or obstetric conditions, particularly during pregnancy. Imaging modalities, such as ultrasound with Doppler flow assessment, play a supportive role but are not definitive, making timely surgical evaluation essential. The primary treatment goal is prompt surgical intervention to relieve torsion and, whenever feasible, preserve ovarian function. This report describes the case of a 31-year-old primigravida woman presenting at 18 weeks of gestation with right ovarian torsion successfully managed with laparoscopic adnexectomy. CASE REPORT A 31-year-old primigravida woman at 18 weeks of gestation presented with acute right iliac fossa pain, with inconclusive laboratory and imaging results. In the following hours, progression of pain and ultrasound findings revealing a hypovascular adnexal mass led us to suspect ovarian torsion. Diagnostic laparoscopy confirmed right ovarian torsion with extensive necrosis. Following detorsion, the absence of reperfusion indicated irreversible damage, necessitating a right adnexectomy to prevent further complications. CONCLUSIONS Ovarian torsion during mid-pregnancy is uncommon and presents a diagnostic challenge because its symptoms can mimic other obstetric or gastrointestinal conditions. Laparoscopic management, with careful intraoperative modifications for pregnancy, is safe and effective. Early recognition and intervention are critical to minimize maternal and fetal risks while optimizing outcomes.

BACKGROUND This report describes the case of an 81-year-old woman with a history of resected right-lung adenocarcinoma and presenting with a solitary nodule in the head of the pancreas, which demonstrated diagnostic challenges differentiating between metastasis of lung cancer versus primary pancreatic adenocarcinoma during the pathology workup. Differentiating between primary and metastasis in an isolated pancreatic lesion in a patient with a history of lung carcinoma is critical for patient treatment and management. Histology comparison, immunohistochemical characterization, and molecular studies, including next-generation sequencing (NGS) and microarray, are often utilized to differentiate between these two. CASE REPORT An 81-year-old woman with history of surgically resected right-lung adenocarcinoma in 2016 followed by adjuvant chemotherapy, presented in December 2024 with a solitary hypermetabolic pancreatic head nodule on positron emission tomography-computed tomography (PET CT). Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) of the pancreas lesion was consistent with moderately differentiated adenocarcinoma, showing overlapping histologic morphology and immunohistochemical profile with her prior lung adenocarcinoma. NGS identified genetic alterations favoring a lung origin. However, microarray analysis utilizing real-time RT-PCR done on the subsequently resected pancreas mass classified the lesion as more likely to be of gastrointestinal/pancreatobiliary, rather than lung origin. CONCLUSIONS Differentiating between primary versus metastasis from the lungs in a patient with an isolated pancreatic adenocarcinoma with a history of lung adenocarcinoma can be challenging, and occasionally a definite conclusion is still difficult to reach after comprehensive workups. Driver gene mutations, if present, which can be detected by NGS, may be more reliable in predicting tumor origin/type.

BACKGROUND Vaginal bleeding in prepubertal girls is an uncommon finding and should always prompt thorough evaluation. Puberty is a complex physiological process resulting from maturation of the hypothalamic-pituitary-gonadal axis. Precocious puberty is defined as the early onset of secondary sexual characteristics before the age of 8 years in girls. The incidence ranges from 1 in 5000 to 1 in 10 000 girls worldwide. In contrast, isolated premature menarche is a rare and benign condition characterized by vaginal bleeding without other signs of pubertal activation and remains a diagnosis of exclusion. CASE REPORT We report a 17-month-old female infant who presented with recurrent vaginal bleeding every month over the 3 months prior to admission. Physical examination showed normal external genitalia, with no signs of inflammation, trauma, foreign body, or sexual abuse. There were no secondary sexual characteristics, and growth parameters were appropriate for age. Laboratory examination revealed prepubertal basal gonadotropin levels, normal hormonal levels, normal thyroid function tests, and bone age consistent with chronological age. Platelet function testing showed hyperaggregation, considered a transient and incidental finding. Pelvic ultrasonography demonstrated the size of the uterus was consistent with the age of puberty. After exclusion of local, endocrine, and systemic causes, a diagnosis of isolated premature menarche was established. CONCLUSIONS Menstrual-like vaginal bleeding in prepubertal girls requires systematic and comprehensive examination to differentiate isolated premature menarche from other diseases. Recognition of this benign entity is important to avoid unnecessary interventions and ascertain appropriate follow-up.

BACKGROUND Acute coronary syndrome is the most common cause of death in the United States. Successful intervention often requires a multi-therapeutic approach, including percutaneous coronary intervention (PCI) and antiplatelet agents such as ticagrelor. However, the use of antiplatelet agents can cause life-threatening bleeding, particularly during emergency procedures. Therapeutic plasma exchange (TPE) is a procedure that selectively removes the patient's plasma to eliminate harmful substances. Here, we present 2 cases of novel TPE implementation in the setting of uncontrolled ticagrelor-induced bleeding. CASE REPORT Our first case was a 52-year-old man who presented with ST-elevation myocardial infarction. He underwent emergency percutaneous coronary intervention and was started on dual antiplatelet therapy (aspirin 81 mg/day, and ticagrelor 90 mg twice daily). A post-infarction ventricular septal defect required emergency surgical repair. After the surgery, uncontrolled bleeding persisted despite all conventional treatment methods. Following TPE, the bleeding was controlled, hemostasis was achieved, and platelet function was increased within days. Our second case was a 66-year-old man who received single doses of ticagrelor (180 mg) and eptifibatide (180 mcg/kg) during an attempted PCI. After complication by left main coronary artery dissection, emergency 2-vessel coronary artery bypass surgery was performed. In the immediate postoperative period, TPE was performed for persistent uncontrolled bleeding. Platelet reactivity increased immediately following the procedure; bleeding was stabilized, and no further blood products were required after postoperative day 1. CONCLUSIONS TPE may be an effective novel option for emergency removal of circulating ticagrelor in refractory bleeding cases.

BACKGROUND Anaphylaxis is a severe, systemic hypersensitivity reaction that poses a potential threat to life. The occurrence of mastocytosis increases the likelihood of severe anaphylactic reactions. Appropriate management is crucial for improving clinical outcomes. CASE REPORT The case describes severe anaphylactic shock in a 31-year-old female patient with suspected mastocytosis. The shock occurred following a sting by a hymenopteran insect. The patient required mechanical ventilation and circulatory support for cardio-respiratory failure. Because of insufficient response to intramuscular injections of epinephrine, continuous intravascular infusion was needed. Intensive fluid therapy with balanced crystalloids was administered. As part of supportive treatment, antihistamines (rupatadine via a nasogastric tube) and intravenous glucocorticosteroids were given. Acid-base disturbances were also corrected. The patient was discharged from the intensive care unit on the third day of hospitalization in good general condition. CONCLUSIONS The core management of anaphylaxis in a patient with suspected or diagnosed mastocytosis is similar to the general recommendations for anaphylaxis treatment. However, it should be noted that patients with mastocytosis can have significantly higher requirements for adrenaline. Continuous intravenous infusion of adrenaline during the first 1 to 2 days following the onset of anaphylaxis may be warranted. Due to the rapid course of anaphylaxis and excessive immune response, more severe disturbances in organ perfusion can occur, resulting in metabolic acidosis. In such patients, intravenous infusion of sodium bicarbonate can be necessary. Therefore, patients with mastocytosis who experience anaphylaxis may be less responsive to epinephrine and should be admitted to the intensive care unit early.

BACKGROUND Parahiatal hernias (PHHs) are uncommon diaphragmatic defects that can resemble paraesophageal hiatal hernias (PEHs), resulting in a diagnostic challenge and the potential for inappropriate preoperative surgical planning. Preoperative differentiation of PHH from PEH is difficult due to their anatomic proximity to the esophageal hiatus. This report highlights the importance of intraoperative recognition of PHH and the alteration of the surgical plan. Robotic assistance was used to facilitate visualization and repair of the defect. CASE REPORT A 71-year-old female patient presented with a 3-month history of progressive epigastric pain radiating to the chest and arm, nausea, vomiting, and food intolerance. Imaging suggested a PEH, and robotic-assisted laparoscopic repair with fundoplication was planned. Intraoperatively, herniation was noted to be through a distinct diaphragmatic defect lateral to the esophageal hiatus, consistent with PHH. The PHH was complicated by a gastric volvulus. Surgical plans were adjusted to correlate with PHH repair, which included adhesiolysis and hernia reduction. A double-layer primary closure without fundoplication or mesh was performed. Recovery was uneventful, with complete symptom resolution at 2 weeks. There was no recurrence at follow-up. CONCLUSIONS PHH should be considered when intraoperative findings deviate from anticipated PEH workup. Robotic-assisted repair offers visualization and dexterity for precise dissection and secure closure. This case supports the safety and feasibility of robotic PHH repair and emphasizes intraoperative recognition to optimize surgical management.

BACKGROUND Evaluating hip pain in older adult patients is challenging when elderly-onset rheumatoid arthritis (EORA) develops on a background of end-stage osteoarthritis (OA). Although disease-modifying antirheumatic drugs suppress inflammation, radiographic structural improvement in the hip is rarely reported. This report describes a 78-year-old man with end-stage hip OA in whom EORA developed and responded to the Janus kinase (JAK) inhibitor upadacitinib (UPA). CASE REPORT A 78-year-old man with end-stage right hip OA developed polyarthritis and was diagnosed with EORA. Despite corticosteroids and multiple conventional disease-modifying antirheumatic drugs, disease activity remained high (C-reactive protein [CRP], 7.22 mg/dL; Simplified Disease Activity Index, 22.2; Disease Activity Score 28-CRP, 4.4). Methotrexate was avoided due to interstitial changes on chest radiography. UPA was initiated 6 months after presentation, resulting in marked clinical improvement and corticosteroid discontinuation at 9 months. Under UPA monotherapy, the Simplified Disease Activity Index decreased to 3.0 and Disease Activity Score 28-CRP to 1.5, with hip-related symptoms improving. Follow-up radiographs suggested subtle improvement in the appearance of joint space narrowing at 2 months, with improved delineation of the subchondral bone by 6 months. Although the patient initially declined surgery owing to symptom relief, persistent gait disturbance required total hip arthroplasty. Intraoperative findings showed only mild synovial inflammation. CONCLUSIONS This case indicates that, in end-stage hip OA complicated by EORA, tight inflammatory control with UPA can be associated with symptomatic improvement and radiographic changes. When hip OA and EORA coexist, repeat imaging after inflammation is tightly suppressed may aid interpretation of persistent pain and structural findings.

BACKGROUND A Spigelian hernia is a ventral hernia that occurs through the Spigelian fascia, formed by the aponeuroses of the transversus abdominis and internal oblique muscles; it may contain peritoneum or abdominal contents. This report describes an older woman who exhibited left leg swelling and intermittent right lower abdominal pain due to compression and thrombosis of the left common iliac vein by an overriding right common iliac artery (May-Thurner syndrome), in conjunction with a right-sided Spigelian hernia. CASE REPORT A 63-year-old woman presented with left leg swelling and intermittent right lower abdominal pain. She initially developed left lower extremity edema, for which percutaneous intervention was performed to treat venous obstruction. During the same admission, she experienced bowel obstruction and right lower quadrant abdominal pain, leading to a diagnosis of incarcerated Spigelian hernia. Computed tomography revealed a non-occlusive thrombus of the left iliac vein consistent with May-Thurner syndrome, as well as a right-sided Spigelian hernia containing obstructed, dilated small bowel loops. The patient underwent endovascular thrombectomy and stenting of the left iliac vein, followed by laparoscopic mesh repair of the Spigelian hernia. Both procedures were completed without complications. CONCLUSIONS This case illustrates the simultaneous occurrence of left common iliac deep vein thrombosis secondary to May-Thurner syndrome and a Spigelian hernia associated with obstructive symptoms. Successful diagnosis and management of these rare conditions were achieved through interdisciplinary collaboration, advanced imaging, and minimally invasive intervention.

BACKGROUND Subclavian steal syndrome (SSS) is typically caused by atherosclerotic occlusion of the proximal subclavian artery. While atherosclerosis is the primary etiology, clinical awareness of non-atherosclerotic triggers is essential for accurate diagnosis. Non-atherosclerotic causes, such as arterial kinking, are exceedingly rare and are frequently overlooked in the differential diagnosis of vertebrobasilar insufficiency. This report describes a case of partial SSS secondary to mechanical kinking of the brachiocephalic trunk (BCT) in an elderly patient, emphasizing the need to consider anatomical variations even without obstructive plaques. CASE REPORT A 66-year-old woman with a history of stroke and atrial fibrillation (CHA₂DS₂-VASc score of 5) was referred for color Doppler ultrasound of the carotid and vertebral arteries. Imaging revealed Stage II (intermittent) flow reversal in the right vertebral artery, characterized by a distinctive mid-systolic deceleration pattern. Subsequent computed tomography angiography (CTA) excluded atherosclerotic disease but demonstrated a severe 90-degree angulation (kinking) at the BCT origin. This anatomical variation created a pressure gradient sufficient to induce a partial steal phenomenon. Given the patient's high thromboembolic risk and clinical stability, a conservative management approach with optimized anticoagulation and strict cardiovascular risk control was prioritized. CONCLUSIONS BCT kinking should be considered a potential hemodynamic cause of SSS when atherosclerosis is absent. This case highlights the importance of multi-modal imaging (color Doppler ultrasound and CTA) in identifying rare anatomical triggers for flow inversion. A conservative strategy is safe when flow in the basilar artery remains stable.

BACKGROUND Niemann-Pick disease type C (NPC) is a rare, progressive neurodegenerative lysosomal storage disorder often diagnosed in childhood after the onset of neurological symptoms. Gelastic cataplexy - the sudden loss of muscle tone associated with laughter but remaining consciousness - is quite specific for NPC. This report describes the case of a 4-year-old boy with NPC presenting with gelastic cataplexy who responded to treatment with N-acetyl-L-leucine (NALL). CASE REPORT We present the case of a patient who first presented in the genetics clinic due to hepatosplenomegaly, dysmorphic features, and milestone delay at 2 years old. He had a history of cholestatic jaundice and hepatosplenomegaly at 2 months old. Granulomatous hepatitis of unknown origin was diagnosed by liver biopsy, and then the cholestatic jaundice resolved. The diagnosis of NPC was made, confirmed by compound heterozygous missense likely pathogenic in NPC1 (NM_000271.5): one known; c.2072C>T (p.Pro691Leu), and one novel; c.2805A>G (p.Ile935Met) at the age of 3 years. He then developed gelastic cataplexy at the age of 4 years, and a clinical improvement was observed within the first month after receiving NALL, including a significant decrease in cataplexy episodes, improved motor function, and reduced splenomegaly. CONCLUSIONS This case highlights the critical role of early genomic diagnosis in NPC, enabling prompt management of worsening neurological symptoms and potentially responding to treatment with NALL.