American Journal of Case Reports最新文献

BACKGROUND Ceftriaxone is a cephalosporin antibiotic administered by injection, and although it is widely used, there have been rare reports of anaphylaxis and cardiac arrest, with some fatal outcomes. This report describes the case of a 61-year-old woman with anaphylaxis and cardiac arrest on initial intravenous administration of ceftriaxone who recovered following cardiopulmonary resuscitation. CASE REPORT A 61-year-old woman with a 3-day history of cough and dizziness presented to the emergency room. She had been taking cefuroxime and aminophylline, with no known antibiotic allergies. On examination, mild leukocytosis was observed, and chest computed tomography (CT) revealed right lower-lobe consolidation, consistent with pneumonia. Intravenous ceftriaxone was administered. Within 30 seconds, she developed severe respiratory distress and cyanosis. Ceftriaxone was immediately discontinued, and she rapidly progressed to asystole, and advanced cardiovascular life support (ACLS) was initiated. Spontaneous circulation was restored after 2 minutes. She stabilized with corticosteroids and supportive care and her respiratory status and oxygenation improved. One hour after onset, a transient truncal urticaria occurred and resolved spontaneously. She was then transferred to the intensive care unit (ICU) and discharged in good health after 3 days. No complications were noted at 1-month follow-up. CONCLUSIONS An initial intravenous dose of ceftriaxone may trigger rare but serious anaphylactic reactions, even in patients without a history of drug allergy, underscoring the need for vigilant monitoring during administration.

BACKGROUND Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucosylceramidase beta 1 (GBA1) gene, with a wide range of clinical manifestations. Type 2 GD, the acute neuronopathic form, is the most severe and has historically been considered a distinct clinical entity. Emerging evidence suggests a broader phenotypic spectrum, including intermediate forms that do not fully align with the diagnostic criteria for either type 2 or type 3 GD. Here, we describe an Albanian patient with an unusual intermediate type 2-3 phenotype, homozygous for the rare GBA1 complex allele p.[His294Gln;Asp448His] that is frequently found in Balkan populations. Although this genotype is typically associated with early-onset type 2 GD and death within the first 2 years of life, our patient developed neurologic symptoms at 15 months and survived until age 5. CASE REPORT A male Albanian infant presented at 4 months of age with hepatosplenomegaly and thrombocytopenia. Genetic testing revealed homozygosity for the rare GBA1 complex allele p.[His294Gln;Asp448His]. Enzyme replacement therapy, initiated at 7 months, led to temporary improvement of visceral and hematological symptoms. Neurologic manifestations - including oculomotor apraxia, dystonia, and seizures - emerged at 15 months. Despite continued enzyme replacement therapy and supportive care, the patient's neurologic condition progressively worsened, and he died at age 5 due to disease progression and pulmonary complications. CONCLUSIONS This case reinforces the concept that type 2 GD exists on a phenotypic spectrum, rather than as a uniform clinical entity, and underscores the broad genotype-phenotype variability in GD.

BACKGROUND The uterine cervix is crucial for maintaining pregnancy to term, and complete cervical repair is essential to prevent future obstetric complications. Despite the importance of the cervical remodeling process, its characterization from pregnancy to the postpartum period in humans has been challenging. Quantitative ultrasound (QUS) noninvasively estimates tissue properties, potentially providing insights into the cervical remodeling process beyond standard clinical assessment. By characterizing biological changes throughout pregnancy and the postpartum period, QUS can potentially improve our understanding of normal cervical remodeling and early deviations that can be associated with adverse outcomes. CASE REPORT This retrospective case series was aimed to characterize the cervical remodeling process from pregnancy to 1 year postpartum. Eight women underwent transvaginal ultrasound scans at 2 time points in mid-pregnancy (approximately 20 and 24 weeks of gestation) and 5 time points postpartum (approximately 6 weeks, and 3, 6, 9, and 12 months). Five QUS biomarkers were analyzed: attenuation coefficient, backscatter coefficient, shear wave speed, slope, and intercept. Similar trends were observed in attenuation coefficient, backscatter coefficient, and slope over time. During pregnancy, lower shear wave speed values were detected (mean [SD], 1.6 [0.3] m/s) that increased after delivery (3.2 [0.2] m/s). Additionally, intercept values were higher during both pregnancy time points (-33.3 [0.52] dB) and decreased postpartum (-36.1 [0.45] dB). CONCLUSIONS This case series provides data on the cervical tissue changes observed in 8 participants measured using QUS. These preliminary findings can inform future studies aimed at understanding cervical remodeling and its clinical implications based on cervical tissue changes.

BACKGROUND Anterior cervical discectomy and fusion (ACDF) is a commonly performed and effective procedure for treating cervical spondylosis. Although cerebrospinal fluid (CSF) leakage is an uncommon complication, occurring in 0.2% to 1.7% of cases, it typically presents as an extraspinal leak. This report describes the case of a 51-year-old woman with postoperative headache due to an early epidural (intraspinal) CSF leak following ACDF - a complication that has not been previously reported. CASE REPORT A 51-year-old woman presented with chronic neck pain, cervicogenic headaches, and upper-limb paresthesia due to multilevel cervical spondylosis. MRI revealed discopathy at C4-C7. She underwent elective ACDF at C4-C7. During discectomy at C5/C6, a CSF leak was observed before exposure of the posterior longitudinal ligament (PLL) and was repaired intraoperatively using TachoSil, a muscle graft, and fibrin glue. On the first postoperative day, the patient developed headaches, nausea, and dizziness consistent with intracranial hypotension. MRI on postoperative day 4 revealed a ventral epidural CSF collection. Lumbar drainage was placed, resulting in resolution of symptoms and the CSF collection. Follow-up MRI at 6 weeks confirmed complete recovery. CONCLUSIONS This report presents a rare case of early epidural CSF leak following ACDF. Prompt recognition and conservative management with lumbar drainage resulted in full recovery without reoperation. Awareness of this potential complication can aid early diagnosis and prevent unnecessary surgical interventions.

BACKGROUND Herniation of the bowel through the obturator foramen is a rare cause of intestinal obstruction. It occurs more frequently in elderly, thin women and typically presents on the right side. Because of its deep pelvic location, diagnosis is often delayed, and emergency surgery is usually required. When reduction is difficult, alternative approaches, such as the double-incision technique, can facilitate safe and effective management. This report presents the case of a 67-year-old woman with acute right lower abdominal pain due to an incarcerated obturator hernia, managed with a double-incision approach, segmental bowel resection, and entero-enterostomy. CASE REPORT A 67-year-old woman presented with acute right lower abdominal pain and symptoms of intestinal obstruction. Abdominal computed tomography (CT) revealed an incarcerated obturator hernia. Emergency surgery was performed through a lower midline incision, but reduction of the herniated bowel was unsuccessful due to severe edema and tight incarceration. A secondary groin incision was made to access the obturator canal directly. The necrotic bowel segment was resected, and an entero-enterostomy was performed. The patient recovered uneventfully and was discharged on postoperative day 10. CONCLUSIONS This case highlights the importance of prompt diagnosis and emergency surgical treatment of incarcerated obturator hernia to prevent bowel ischemia, necrosis, and potentially fatal complications. A combined approach using an additional groin incision allowed for safe management, including decompression, adhesiolysis, and resection of the necrotic bowel. This approach enables safe decompression, adhesiolysis, and resection, thereby minimizing intraoperative risk and improving postoperative outcomes in complex cases.

BACKGROUND Gallbladder agenesis is a rare congenital anomaly resulting from failed cystic bud development or canalization during early embryogenesis. While frequently asymptomatic, up to half of patients develop postprandial right upper-quadrant pain resembling biliary colic. This report describes an unusual case of gallbladder agenesis in a 38-year-old man with Klinefelter syndrome who presented with hematemesis and right upper-quadrant pain. CASE REPORT A 38-year-old man with known Klinefelter syndrome (47, XXY) and no prior abdominal surgery presented with hematemesis, lightheadedness, syncope, and right upper-quadrant pain. Laboratory testing revealed mild transaminitis, elevated ferritin, and normal bilirubin. Computed tomography angiography initially revealed hepatic steatosis and splenomegaly, and no gallbladder was visualized on hepatobiliary iminodiacetic acid scan and ultrasound. Esophagogastroduodenoscopy showed mild antral gastritis and a small hiatal hernia without active bleeding. Gallbladder agenesis was confirmed by magnetic resonance cholangiopancreatography. The patient's hematemesis resolved spontaneously, and he was discharged in stable condition with hepatology follow-up. CONCLUSIONS This case highlights the diagnostic value of MRCP in confirming gallbladder agenesis and avoiding unnecessary surgical exploration. Hematemesis as the initial presentation is highly atypical, suggesting a potential but unproven link between gallbladder agenesis and upper-gastrointestinal bleeding. Additionally, this report presents the first known coexistence of GA and Klinefelter syndrome, raising the possibility of a subtle developmental correlation between chromosomal nondisjunction and endodermal organogenesis. Recognition of such rare presentations expands the phenotypic spectrum of Klinefelter-associated hepatobiliary abnormalities and underscores the need for awareness of gallbladder agenesis in patients with biliary-type pain but no visible gallbladder on imaging.

BACKGROUND Metabolic and bariatric surgeries (MBS) are effective treatments for obesity and related comorbidities, such as diabetes and hypertension. In patients with morbid obesity and challenges like hepatomegaly, conventional procedures may increase risks. Staged MBS was developed to address these issues, enhancing safety. This report highlights the successful use of isolated intestinal transit bipartition with duodeno-ileal anastomosis, preserving the duodenum, as the first stage of the duodenal switch. CASE REPORT A 40-year-old woman with a BMI of 40.2 kg/m² was booked for MBS. Severe hepatomegaly impaired safe access to the esophagogastric junction, leading to the performance of only the intestinal stage of the duodenal switch. A duodeno-ileal anastomosis was created 250 cm from the ileocecal valve, preserving the stomach and partial duodenal function. Without the gastric stage, the patient achieved 50 kg of weight loss (equivalent to 78.7% excess weight loss) over 19 years, without requiring additional surgery. Minor complications included occasional diarrhea, meteorism, and difficulties with vitamin supplementation, all managed effectively through dietary adjustments and nutritional guidance. A benefit was increased satiety. CONCLUSIONS Isolated intestinal transit bipartition with duodeno-ileal anastomosis is an approach that may be used in exceptional cases, such as with this patient. Despite the favorable long-term follow-up results, further studies are necessary to better understand this approach. This method demonstrated sustained weight loss and long-term metabolic control, potentially representing a promising initial treatment option for patients with lower BMIs, including those with type 2 diabetes.

BACKGROUND Appendicitis is a common surgical emergency, but the diagnosis may remain unclear and challenging, particularly in middle-aged women who present with atypical features. Atypical appendicitis, defined as appendiceal inflammation without classic migratory pain, nausea, or fever; it often mimics gynecological disorders, contributing to diagnostic delays. The present case is unique because it involved an unusually prolonged 2-month history of persistent suprapubic pain before acute exacerbation. Such a chronic course preceding the acute phase is uncommon and further complicated the diagnostic process, underscoring the need for clinical vigilance in prolonged, unexplained lower abdominal pain. CASE REPORT A 46-year-old woman presented with a 2-month history of persistent suprapubic pain without associated systemic symptoms. Her gynecological history included prolonged intrauterine copper device use and recent postcoital bleeding. Initial clinical evaluation suggested pelvic inflammatory disease, and empirical antibiotics provided minimal symptomatic relief. Laboratory investigations and imaging, including pelvic ultrasound and computed tomography, were inconclusive, demonstrating bilateral simple ovarian cysts and a minimally distended appendix with mild periappendiceal fat stranding. Due to worsening localized right lower abdominal pain and persistent symptoms, laparoscopic appendectomy was performed. Histopathology confirmed early acute appendicitis. The patient's postoperative recovery was uneventful. CONCLUSIONS This case underscores the need to maintain high clinical suspicion for appendicitis despite normal white blood cell counts and equivocal imaging, thereby supporting re-evaluation protocols for persistent abdominal pain.

BACKGROUND Uterine fibroids are common benign gynecologic tumors characterized by abnormal uterine bleeding, menorrhagia, and anemia. Myomatous erythrocytosis syndrome (MES), a rare secondary erythrocytosis associated with fibroids, presumably results from ectopic erythropoietin production by the fibroids, which activates the Janus kinase 2 (JAK-2) pathway and increases red blood cell counts. MES clinically presents with abdominal distension, skin discoloration, and menstrual irregularities. Management is complex due to substantial risks of intraoperative bleeding and thromboembolism. This report describes a 33-year-old woman with MES. After myomectomy, her erythrocytosis normalized, but she developed postoperative bleeding. CASE REPORT A 33-year-old woman presented with a 2-year history of progressive abdominal distension and an abdominal mass comparable in size to a 20-week gravid uterus, plethoric facies, and reddish-purple nail beds. Her hemoglobin level was 19.7 g/dL; hematocrit was 60.4%. Ultrasound and computed tomography confirmed a 25×20×12 cm fibromatous uterus. To reduce thromboembolic risk, she received low-molecular-weight heparin and intravenous hydration preoperatively. Abdominal myomectomy was performed, during which substantially increased uterine and fibroid vascularity was observed. However, the patient experienced severe postoperative hemorrhage (1800 mL/24 h), warranting a second operation for hemostasis. She recovered well and was discharged on postoperative day 14; her hemoglobin level normalized. Pathologic examination confirmed uterine leiomyoma, supporting the diagnosis of MES. CONCLUSIONS MES is a rare condition characterized by large uterine fibroids and erythrocytosis; postoperative bleeding and thrombosis are common complications. This case highlights the importance of accurate diagnosis and effective management. Erythropoietin-related therapeutic targets for MES are needed.

BACKGROUND Endovascular aneurysm repair (EVAR) effectively treats abdominal aortic aneurysms but risks complications, including endoleak and graft infection. CASE REPORT A 74-year-old man with EVAR, complicated by endoleak the following month with persistent pain following endoleak repair, presented with multiple abscesses (epidural, psoas, and disc space) and an aorto-disc fistula 7 months after the endoleak repair. Long-term corticosteroid use and an interleukin-6 inhibitor for presumed polymyalgia rheumatica contributed to immunosuppression. This misdiagnosis, along with immunosuppression and inconclusive outside imaging, diagnostic tunneling contributed to a delayed diagnosis until discitis, osteomyelitis, and abscesses were discovered on computed tomography (CT). This case is a rare presentation, and there is scant literature on spinal abscess from EVAR. Given the uniqueness and complexity of the presentation, a multidisciplinary approach was required for a better outcome, including multiple surgery teams and multiple medical teams. Management included abscess drainage, EVAR explant with rifampin-soaked Dacron graft reconstruction, surgical debridement, antibiotic beads, and 6 weeks of intravenous daptomycin for coverage of previously positive spinal tissue cultures (methicillin-sensitive Staphylococcus aureus and Cutibacterium acnes) with a plan for lifelong suppression with doxycycline. The patient ultimately had a new endoleak requiring repair, but was doing well as of his last appointment 8 months after his presentation to our facility. CONCLUSIONS This case demonstrates the need for postoperative vigilance and multidisciplinary care for patients undergoing EVAR. Comprehensive source control and close follow-up have thus far yielded a successful clinical outcome.