AME Case Reports最新文献

Background: Diverticulosis of the appendix is a rare pathological entity and there is association with the presence of neoplasms. Peritonitis caused by ruptured appendiceal diverticulum, as a result of inflammation, is an even rarer medical condition. The inflammation of appendiceal diverticula should be part of the differential diagnosis of right iliac fossa pain, especially in patients with signs of acute appendicitis, and computed tomography of the abdomen is the most useful imaging modality. An early accurate diagnosis is difficult and surgical approach remains the treatment of choice.

Case description: A 53-year-old male patient presented to Accident and Emergency Department due to lower abdominal pain, vomiting and fever. Primary evaluation and laboratory tests were suggested for intra-abdominal infection. A computed tomography confirmed the presence of right iliac fossa inflammation associated with a small fluid collection due to perforated appendix. The patient underwent an urgent laparoscopic appendicectomy and his post-operative period was uneventful. The pathologic examination identified a ruptured appendiceal diverticulum associated with abscess formation in the mesoappendix.

Conclusions: It is of utmost importance for clinicians and radiologists to be aware of this rare clinical condition due to its potentially serious complications related to it. Any delay in the management may lead to increased risk of morbidity and mortality. Further research is needed to improve the diagnostic accuracy and to ameliorate the patients' treatment options.

Background: Nasal foreign bodies (FBs) are frequently encountered in pediatric patients; however, it is uncommon for FBs to remain undetected into adulthood. Long-retained FBs-especially metallic-can trigger chronic inflammation and granulation tissue formation which may subsequently lead to rhinolithiasis. Diagnosis is often delayed by embarrassment, vague symptoms, or misdiagnosis as chronic rhinosinusitis. In some cases, the foreign body may remain asymptomatic for many years, further complicating the diagnosis.

Case description: We describe an uncommon case of a 35-year-old man who presented with a persistent unilateral nasal discharge for the last year. He has a history of coin insertion into his left nostril at 6 years of age. This condition was asymptomatic for nearly three decades. Discharge stagnation led him to seek medical assistance when it became foul-smelling, dark brown, and blood-stained. Anterior and lateral skull X-rays showed left posterior nasal cavity well-circumscribed radio-opaque lesion. Endoscopic surgery under general anesthesia found the inferior turbinate harboring the calcified coin which was fragmented during extraction and saved in six pieces. Recovery following this procedure was smooth without complication.

Conclusions: This case highlights the need to pay attention to long-standing nasal FBs in adults with chronic unilateral nasal complaints. Timely imaging as well as prompt surgical intervention is necessary to prevent complications like rhinolithiasis and chronic sinusitis.

Background: Ovarian mucinous tumor has been a common epithelial tumor originated from female reproductive system, and a few of the tumors might be accompanied by mural nodules including sarcomatoid nodules, sarcoma, and anaplastic carcinoma. In much rarer cases, the epithelial tumors of female genital tract coexist with germ cell tumors, for instance yolk sac tumor (YST). Up to date, only seven cases of ovarian mucinous tumors associated with YST component have been reported. In the study, we present a rare case of ovarian mucinous tumor with both anaplastic region and YST component, and reviewed all the eight cases to highlight current understanding of the pathological diagnosis and clinical features of the disease.

Case description: A 62-year-old women admitted to the hospital due to intermittent lower abdominal pain accompanied by gradually increasing abdominal distension for over two years, imaging analysis revealed a pelvic mass with the maximum diameter nearly as 20 cm. Further, postoperative pathological examination of the mass revealed three distinct regions, including cystic areas, solid areas, and certain microcystic reticular areas. Immunohistochemical (IHC) experiment showed different results among these areas which supported the final pathological diagnosis as anaplastic ovarian mucinous carcinoma with YST differentiation. The patient went through 6 periods of chemotherapy, however, the tumor recurred 62 days post-operation, currently, the recurred mass has again filled the abdominal cavity (3 months post operation). The patient is currently still alive, but her condition is extremely poor.

Conclusions: We presented a rare case of ovarian mucinous carcinoma with anaplastic region and YST differentiation. The case and seven other cases retrieved from literature revealed that its current diagnosis primarily rely on pathological morphological characteristics together with IHC experiment. Gene mutations were identified in some of the cases, for instance CDKN2A and CDKN2B genes deletion, as well as KRAS and TP53 genes mutation. This tumor is highly aggressive, 75.0% (6/8) of the cases recurred or dead within one year of diagnosis.

Background: Radiation pneumonitis (RP) and immune-related pneumonitis represent frequent side effects following treatment for esophageal cancer. Addressing these conditions while minimizing the risk of chronic pulmonary fibrosis remains a significant clinical challenge.

Case description: This case report describes the management of a patient with esophageal cancer who developed interstitial pneumonia following combined radiotherapy and immunotherapy. Guided by the "Chinese Expert Consensus on the Diagnosis and Treatment of Radiation Pneumonitis", an individualized corticosteroid regimen was implemented. The patient was closely monitored over a 6-month follow-up period, and no significant progression to pulmonary fibrosis was observed. This case provides a detailed analysis of the clinical decision-making process for a grade 3 adverse event in this specific context.

Conclusions: In clinical practice, inappropriate use of corticosteroids may adversely affect patients' quality of life. This case demonstrates that a structured and individualized approach to corticosteroid management can serve as a viable strategy for mitigating severe RP and preserving functional status. However, the management of such cases remains challenging due to the high risk of complications such as pulmonary infection, particularly in patients with pre-existing lung conditions. The optimal timing, dosage, and duration of corticosteroid therapy in this context remain unclear, as no established protocol for individualized treatment currently exists in China. Thus, this case underscores a significant clinical dilemma and highlights the urgent need for further research to develop standardized, evidence-based guidelines for this patient population.

Background: Dermatophytosis is a fungal skin infection most commonly caused by members of the genera Trichophyton, Microsporum, and Epidermophyton, though there are 7 genera currently described including Arthroderma, Nannizzia, Paraphyton and Lophophyton. These filamentous fungi survive in the stratum corneum of the hair, skin, or nails of their host by metabolizing keratin. Dermatophyte skin infections can be acquired from direct contact with the skin of infected individuals or animals, fomite transmission, contaminated soil, or autoinfection from other infected body sites. These fungal skin infections are commonly known as "ringworm" due to their classic clinical presentation as an annular, pruritic, scaling patch or plaque that contains an area of central clearing and an expanding and raised active border.

Case description: The case of a 22-year-old female with blistering rash involving the neck, abdomen, arms, and lower extremities is presented. Her clinical presentation, along with a similar rash in her fiancé and a concurrent scaling rash in her dog, led to a broad differential diagnosis. Histopathology revealed superficial fungal elements, and molecular testing on paraffin-embedded tissue confirmed Microsporum canis as the causative organism. The patient and household contacts were successfully treated with systemic and topical antifungals, with no recurrence over 6 months.

Conclusions: This case report highlights an uncommon presentation of tinea corporis caused by a zoophilic dermatophyte and underscores the importance of maintaining clinical suspicion even in atypical cases. Molecular identification methods such as broad-range fungal polymerase chain reaction (PCR) can be valuable tools in establishing the diagnosis when conventional diagnostics are unavailable or inconclusive.

Background: In recent years, immunotherapy has been extensively employed in the treatment of various advanced malignant neoplasms, with immune checkpoint inhibitors (ICIs) representing the most prevalent form of this therapeutic approach. Penpulimab, a humanized monoclonal antibody, targets immunoglobulin G1 (IgG1) and binds to programmed cell death protein 1 (PD-1) receptors, blocking their interaction with programmed death-ligand 1 (PD-L1) and programmed death-ligand 2 (PD-L2), thereby inhibiting immunosuppressive activity. During the administration of ICIs, the overactivation of immune cells can lead to the unintended targeting of normal tissues and organs, resulting in immune-related adverse events (irAEs). Among these, immune-related cholangitis (IRC) and immune-related pancreatitis (IRP) are infrequent occurrences, seldom documented in the literature, and are often linked to unfavorable prognostic outcomes. Here, we present a case of penpulimab-associated cholangitis and Pancreatitis.

Case description: We report on a patient with recurrent gastric cancer post-surgery who was administered penpulimab at a dosage of 200 mg every 3 weeks. Following a 12-month course of penpulimab treatment, the patient exhibited jaundice, along with elevated serum bilirubin, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) levels. A liver biopsy revealed inflammatory changes in the bile ducts. Concurrently, the patient also developed pancreatitis. The patient's symptoms improved following pharmacological and surgical interventions.

Conclusions: We present findings of cholangitis and pancreatitis linked to the antitumor application of penpulimab, an innovative immunosuppressant. This case provides significant Reference for the diagnosis and management of adverse complications associated with immunotherapy.

Background: Cutis laxa is a heterogeneous group of rare connective tissue pathologies characterized by dermal flaccidity and diminished cutaneous elasticity, often associated with phenotypic features of premature aging. The inherited variants of cutis laxa have various modes of genetic transmission and phenotypic heterogeneity and are categorized into three main categories based on inheritance patterns: autosomal dominant, autosomal recessive, and X-linked recessive forms. Autosomal recessive cutis laxa type 1B (ARCL1B) is associated with the gene EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2).

Case description: We present a rare case report of cutis laxa in a male infant weighing 2 kg, who was delivered at 33 weeks' gestational age through an emergency grade 1 cesarean. The neonate was hypotonic with poor respiratory effort and cyanosed. He had dysmorphic features, small eyes, loose folds, and sagging, inelastic, and droopy skin. The abdomen was soft with a massive inguinal hernia, and the genitalia were not visible. Multiple limb deformities were also observed, including in utero fractures of the ribs and the long bones, a healed left femur fracture with callus formation, a healing fracture of the left 7th posterior rib, and right angular rib fractures. The neonate showed a small atrial septal defect with left-to-right shunting, severe right atrial enlargement and moderate left atrial enlargement, and severe tricuspid regurgitation. Mechanical ventilation, with escalated high-frequency oscillation and inhaled nitric oxide with a fraction of inspired oxygen of 100% oxygen, was performed, in addition to administering epinephrine, dobutamine, and hydrocortisone. Whole-exome sequencing detected ARCL1B. However, the neonate's status deteriorated, and he eventually succumbed at nine days of age.

Conclusions: This case report and literature review highlights the occurrence of an extremely rare case, underscoring the significance of a multidisciplinary approach and prenatal detection to diagnose and manage such a rare case, aiming to contribute to the existing literature.

Background: Respiratory syncytial virus (RSV) is the leading cause of bronchiolitis in infancy and the most frequent reason for hospitalization in the first months of life. While most infections follow a mild course, a proportion of infants develop severe disease requiring intensive care. Electrolyte disturbances, especially hyponatremia due to syndrome of inappropriate antidiuretic hormone secretion (SIADH), are a recognized complication and may trigger neurological symptoms. Severe hyponatremia with seizures is rarely documented in otherwise healthy term infants, which makes such cases clinically important. The aim of this report is to describe hyponatremia-induced seizures as a rare but clinically important complication of severe RSV bronchiolitis in a previously healthy infant.

Case description: We report a 1-month-old previously healthy female infant who presented with cough, rhinorrhea, somnolence, and progressive respiratory distress. On admission, the infant developed generalized tonic seizures, and laboratory tests revealed profound hyponatremia with serum sodium of 113 mmol/L. RSV infection was confirmed by nasopharyngeal swab. The infant required transfer to the intensive care unit (ICU), where she was intubated and mechanically ventilated. Hyponatremia was managed with 3% hypertonic saline, and she received empiric antibiotics, later tailored to ceftazidime and amikacin, along with supportive therapy. Ventilatory support was required for 7 days. Neuropediatric assessment confirmed hyponatremia-related seizures, and no underlying neurological disorder was identified. After normalization of electrolytes and gradual clinical improvement, she was discharged after 20 days in good condition.

Conclusions: This report highlights that RSV bronchiolitis can, in rare cases, present with profound hyponatremia and seizures even in previously healthy infants. Routine monitoring of serum sodium at admission, cautious use of intravenous fluids, and early recognition of neurological symptoms are essential to avoid serious outcomes. Awareness of this potential complication can help clinicians initiate timely management and prevent life-threatening consequences.

Background: Hemorrhagic stroke during pregnancy is a rare but life-threatening condition, commonly resulting from ruptured cerebrovascular malformations or aneurysms that lead to intracerebral or subarachnoid hemorrhage (SAH). This case demonstrates favorable maternal and neonatal outcomes following rapid multidisciplinary coordination and timely delivery, adding valuable insight into decision-making in late-pregnancy intracerebral hemorrhage (ICH).

Case description: We report a case of a 39-year-old woman at 35 weeks of gestation who presented with sudden-onset neurological symptoms and was diagnosed with spontaneous ICH. On admission, a multidisciplinary team including obstetricians, anesthesiologists, and neurologists was involved. Due to the lesion's anatomical distribution, endovascular intervention was deemed unsuitable. An emergency cesarean section under general anesthesia was performed to optimize both maternal and fetal outcomes. Postoperatively, the patient was closely monitored, and both maternal and neonatal outcomes were favorable.

Conclusions: Early recognition and an individualized, multidisciplinary approach are essential to improving outcomes for both mother and fetus. This case highlights that, in selected scenarios, prompt delivery combined with conservative neurocritical management can lead to successful results and contribute to the limited body of literature guiding care in such complex situations.

Background: Cytopenias are the hallmark manifestation of myelodysplastic syndrome (MDS) as patients frequently suffer from transfusion-dependent anemia. Luspatercept is part of a new family of drugs approved for transfusion-dependent MDS that bind transforming growth factor-β (TGF-β) family ligands to decrease SMAD signaling, resulting in an increase of circulating mature red cells. However, disruption of the TGF-β/SMAD pathway carries risks given its wide-ranging influence on the development and structure of blood vessels. Here we present the case of a patient with MDS presenting with refractory hypoxia from an intrapulmonary shunt secondary to the development of microvascular pulmonary arteriovenous malformations (PAVM) after starting luspatercept.

Case description: The patient reported progressive shortness of breath while receiving luspatercept and was eventually referred to a pulmonary clinic who discovered the shunt via a bubble echocardiogram. A broad cardiac and autoimmune work-up was unremarkable. Her hypoxia was out of proportion to spirometric and imaging findings. A computed tomography (CT) pulmonary angiogram did not reveal any large vascular malformations.

Conclusions: The decision was made to stop the drug and her hypoxemia resolved within weeks in parallel with resolution of the shunt as the patient returned to room air and her prior functional baseline. In this report, the complex mechanism of luspatercept is discussed with a literature review on the clinical trials leading to its approval in MDS patients. Furthermore, we connect the pathophysiology between the formation of this patient's telangiectasias leading to her PAVM with the disruption of the TGF-β/SMAD pathway from luspatercept use.