Journal of Medical Case Reports最新文献

Background: Clear-cell carcinoma, a rare malignancy of the minor salivary gland of the soft palate, is diagnostically challenging neoplasm due to its rarity and overlapping features with other neoplasms. We report a case of atypical presentation, diagnostic challenges, and long-term follow-up post-surgical resection of the tumor, which adds valuable insights to literature on this rare malignancy.

Case presentation: A 34-years-old Pakistani female came to the hospital with a 2 × 2 cm ulcerative lesion of soft palate. The lesion had no active bleeding and any associated discharge. However, during history taking, she reported pain and occasional bleeding from the lesion.

Diagnosis and therapeutic interventions: Excisional biopsy was performed, and the specimen was sent for histopathological examination and immunohistochemistry, which confirmed the diagnosis of clear-cell carcinoma. Later on, radiological evaluation confirmed the diagnosis of hyalinizing variant of clear-cell carcinoma. Long-term follow-up revealed no recurrence and postoperative complications.

Conclusion: This case report highlights the importance of thorough diagnostic evaluation and long-term follow-up in management of a rare oral malignancy. Histopathological examination and immunohistochemistry are crucial in differentiating clear-cell carcinoma from other malignancies with overlapping features. Surgical excision remains the primary treatment modality, with a favorable prognosis if diagnosed and managed adequately.

Background: Sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia (SMECE) is a rare thyroid tumor. More and more reports have proposed that sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia is significantly invasive, but its origin and pathogenesis are currently controversial.

Case presentation: We presented a 42-year-old female of Han ethnicity. She had a 4-year history of thyroid nodules, and mild decrease in thyroid function was observed at the time of surgery. Subsequently, pathological examination revealed typical morphological characteristics of sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia. Compared with surrounding normal thyroid tissues, significant eosinophil infiltration was observed in the tumor stroma. Negative thyroglobulin immunohistochemical staining and uniquely positive expression of tumor protein p63 and cytokeratin 5/6 were detected in tumor cells. No genetic mutation was detected by next-generation sequencing. No extrathyroid invasion, lymph node metastasis, or distant metastasis was found. The patient was alive without evidence of disease after 24 months of follow-up.

Conclusions: The case presentation supported this point that sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia originated from solid cell nests, and eosinophils might play an important role in the tumorigenesis and development of sclerosing mucoepidermoid carcinoma of the thyroid with eosinophilia. In addition, a comprehensive analysis of the previously reported cases from reported literature revealed that age and distant metastasis might be the risk factors affecting prognosis.

Background: After secondary respiratory failure, liver failure is often reported in the literature on coronavirus disease 2019 infection. Angiotensin-converting enzyme 2 receptors in hepatocytes make the liver directly susceptible to the severe acute respiratory syndrome coronavirus 2 virus. An exacerbated immune response, drug-induced hepatotoxicity, and hypoxia secondary to respiratory failure are further possible causes of hepatocytolysis in coronavirus disease 2019 patients. Pre-existing infection with the hepatitis B virus can aggravate coronavirus disease 2019 or be aggravated/reactivated by it. This case report describes unusually severe liver damage in a coronavirus disease 2019 patient with well controlled hepatitis B, where the evidence points to coronavirus disease 2019-related factors as the main causes of hepatic cytolysis.

Case presentation: A 70 year-old patient of Romanian ethnicity with a 5-year history of chronic hepatitis B presented to the emergency department complaining of fever, chills, and marked physical asthenia with an onset of 2 weeks. Blood tests revealed an inflammatory syndrome and incipient liver cytolysis. Low-intensity opacities were visible on chest X-ray, and the severe acute respiratory syndrome coronavirus 2 polymerase chain reaction test was positive, so the patient was transferred to the infectious diseases hospital. His condition then aggravated atypically, with increasingly severe hepatic cytolysis that was not noted in other coronavirus disease 2019 patients with hepatitis B.

Conclusion: The patient's history of well-controlled hepatitis B suggests that, in this case, liver dysfunction was secondary to coronavirus disease 2019 manifestations such as the cytokine storm, respiratory failure, and drug-induced hepatotoxicity. The patient eventually recovered, and there was no demonstrable reactivation of hepatitis B after discharge. Coronavirus disease 2019 can thus affect liver function severely and primarily, yet without necessarily interacting with adequately managed hepatitis B.

Background: Blood culture-negative infective endocarditis presents a significant clinical and diagnostic challenge owing to its atypical presentation and difficulty in identifying causative pathogens. Bartonella henselae, a rare cause of blood culture-negative infective endocarditis, can further complicate its diagnosis and treatment.

Case presentation: This case report describes the intricate diagnostic journey and therapeutic challenges encountered in a 65-year-old Tunisian female diagnosed with Bartonella henselae-induced infective endocarditis. The patient presented with symptoms of general weakness, weight loss, arthralgia, and a 2-month history of fever along with hepatic involvement characterized by cholestasis and portal hypertension. Despite initial empirical antibiotic therapy leading to temporary improvement, the patient experienced relapse, prompting further investigation. Positive serological tests for Bartonella henselae guided the initiation of targeted antibiotic therapy with rifampin and doxycycline, which resulted in significant clinical improvement. However, the subsequent acute pulmonary edema revealed severe triple-vessel coronary disease, necessitating aortic valve replacement surgery and coronary artery bypass grafting. The patient recovered well postoperatively, with cultures from the aortic valve confirming Bartonella henselae infection.

Conclusions: This report underscores the importance of heightened awareness, comprehensive diagnostic imaging, and careful consideration of treatment strategies in patients with atypical infective endocarditis. This highlights the need for the early suspicion and identification of Bartonella henselae in BCNIE cases, particularly in patients with relevant epidemiological exposure.

Background: Creutzfeldt-Jakob disease is a neurodegenerative disorder that can present with neuropsychiatric features such as dementia; it is a rare cause of rapidly progressive dementia. There are no previously reported cases of probable or confirmed Creutzfeldt-Jakob disease in Nigeria.

Case presentation: A 68-year-old Nigerian Yoruba woman with known hypertension presented with a 6-week history of progressively worsening decline in memory, incoherent speech, irrational behavior, visual hallucinations, acute insomnia, and inability to independently perform activities of daily living. Examination revealed impairment in immediate recall, short- and long-term memories, and a Mini-Mental State Examination score of 2/30. She had an ataxic gait with abnormal jerky movements of the upper limbs. Brain magnetic resonance imaging and electroencephalography were consistent with Creutzfeldt‒Jakob disease. She subsequently experienced sudden clinical deterioration following seizure episodes and features suggestive of aspiration pneumonia, and she died within 14 weeks of the onset of the illness.

Conclusion: This case highlights the pattern and progression of Creutzfeldt-Jakob disease as a cause of dementia in an elderly Nigerian woman and the need to have a high index of suspicion of the diagnosis in patients presenting with rapidly progressive neuropsychiatric symptoms and dementia. Early diagnosis allows caregivers and patients to prepare well for the future, as the disease remains incurable.

Background: A hybrid nerve sheath tumor is a biphasic, benign neoplasm of peripheral nerve sheaths, consisting of combinations of neurofibroma, schwannoma, or perineurioma. These tumors were recognized only recently, in 2013; they commonly occur sporadically but rarely with syndromic associations, such as neurofibromatosis syndrome, Carney complex, and schwannomatosis. With an occurrence of 1 in every 33,000 individuals, neurofibromatosis type 2 is a rare autosomal dominant condition characterized by bilateral vestibular schwannomas. Herein we report a serendipitous occurrence of a hybrid nerve sheath tumor with neurofibromatosis type 2 syndrome, with an emphasis on its diagnostic mimics.

Case report: A 35-year-old Indian male patient presented to the clinic with balance dysfunction, left-sided hearing loss, and spastic weakness in all four limbs during the past 6 months. Neurological examination revealed increased motor tone in all four limbs, bilateral 4/5 limb strength, a right grip strength of 80%, and a left grip strength of 90%. Romberg's sign, Babinski sign (extensor), and Hoffman's sign were positive. No cerebellar signs were elicited. A cranial nerve examination revealed bilateral hearing impairment, with hearing of the left being greater than that of the right. Magnetic resonance imaging revealed, an ependymoma at C1-2, a hyperintensive T2 lesion (likely a meningioma), a neurofibroma at C2, and bilateral vestibular schwannomas at the cerebellopontine angle. The patient underwent tumor excision surgery under somatosensory evoked potential/motor evoked potential monitoring. The tumor at the C2 level showed a nodular arrangement with typical schwannian nodules (SOX-10 strongly positive and epithelial membrane antigen negative); these nodules were encased by a hypocellular neurofibroma component (CD34⁺), forming a lattice around the former. No necrosis or increased proliferation index was noted.

Conclusion: Neurofibromatosis type 2 syndrome is a rare condition, associated with mutations in both alleles of the NF2 (Merlin) gene, and is associated with meningiomas and ependymomas, as seen in this patient. Its occurrence alongside a spinal hybrid nerve sheath tumor is rare and can often lead to an erroneous diagnosis of other nerve sheath tumors or, rarely, a malignant nerve sheath tumor. This case highlights this rare confluence and its mimickers.

Background: Sheehan's syndrome is a form of maternal hypopituitarism resulting from excessive blood loss during or after childbirth. This extensive bleeding may reduce blood flow to the pituitary gland, causing pituitary cell damage and death (necrosis). The incidence of Sheehan's syndrome has decreased in developed countries, whereas in developing countries, it remains a substantial cause of morbidity and mortality among at-risk populations.

Case presentation: We describe the case of a 59-year-old patient of mestizo ethnicity, with an unusual presentation of Sheehan's syndrome 38 years after postpartum hemorrhage that affected hormone secretion at the adenohypophysis. During hospitalization, central adrenal insufficiency, low free thyroxine levels, decreased pituitary gland size, hypogonadotropic hypogonadism, and growth hormone deficiency were noted. The patient was treated with hydrocortisone and levothyroxine, with satisfactory clinical progress and improvement in her quality of life.

Conclusion: Late-onset Sheehan's syndrome is a progressive disease, with nonspecific symptoms, which leads to delayed diagnosis and, if not treated in time, may have fatal consequences.

Background: Stevens-Johnson syndrome epitomizes an acute, exceptionally rare, and capricious immunological phenomenon marked by potentially life-threatening skin reactions, involvement of mucous membranes, and concomitant systemic manifestations. Most cases of Stevens-Johnson syndrome have been attributed to being triggered by drugs, while a minority have implicated infectious agents such as Mycoplasma pneumoniae and Coxsackie virus A6 as their cause. We present a case report on the rare occurrence of Mycoplasma-pneumoniae-induced Stevens-Johnson Syndrome in a 25-year-old Sri Lankan male adult.

Case presentation: A 25-year-old Sri Lankan male adult sought medical attention at our institution, presenting a constellation of symptoms composed of fever with chills, dyspnea, pleuritic chest pain, cough producing reddish sputum, and sore throat, persisting over a 4-day period; 2 days following the onset of the respiratory symptoms, he experienced ocular congestion with purulent discharge and painful oral lesions. He had associated generalized body ache and fatigue. Stevens-Johnson syndrome is diagnosed by skin biopsy.

Conclusion: Stevens-Johnson syndrome is an acute and debilitating condition that requires prompt and timely management to ensure minimum morbidity of the patient. The similarities and overlap of features between Stevens-Johnson syndrome caused due to infectious and drug-related etiologies pose a diagnostic challenge for the physicians, which needs to be subdued using systematic research and evaluation with subsequent formulation of an evidence-based assessment and management plan to ensure safe and efficacious medical care for the patients.

Background: Pediatric pulmonary embolism is a rare yet potentially life-threatening condition, presenting significant diagnostic and therapeutic challenges owing to its nonspecific symptoms and diverse underlying risk factors. This systematic review aims to consolidate data from case series and case reports to provide a comprehensive overview of pediatric pulmonary embolism, focusing on clinical characteristics, diagnostic approaches, treatment strategies, and outcomes.

Methods: This systematic review was conducted in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines and the Cochrane Handbook for Systematic Reviews of Interventions, version 6.3. The study protocol was registered with PROSPERO (ID: CRD42024532471). We utilized the Covidence systematic review software for deduplication and screening of search results. The literature search was developed with a subject specialist and included Medical Subject Headings terms and free-text keywords such as "pulmonary embolism," "pediatric," and "case reports." Databases searched included PubMed, Scopus, Web of Science, and the Cochrane Library up to April 2024, limited to English-language publications. Reference lists of relevant articles were also reviewed.

Results: Pulmonary embolism affected males and females with age ranging from 1 to 18 years. Common underlying conditions included malignancies (for example, Wilms tumor), chronic diseases (for example, nephrotic syndrome), and recent surgical interventions. Diagnostic practices primarily relied on computed tomography pulmonary angiography, supplemented by chest X-ray and ultrasound. Treatment typically involved anticoagulation therapy with unfractionated heparin and low-molecular-weight heparin, transitioning to oral anticoagulants for long-term management. Thrombolytic therapy was used in severe cases. Outcomes varied, with many patients recovering well, though complications such as recurrent embolism and pleural effusion were observed. Fatal cases underscored the critical need for early detection and prompt treatment.

Conclusion: This systemic review underscores the rarity and complexity of pediatric pulmonary embolism, highlighting the necessity for increased clinical vigilance given its nonspecific presentation and diverse underlying risk factors. Accurate diagnosis, primarily via computed tomography pulmonary angiography, with the prompt initiation of anticoagulation therapy are essential for optimal outcomes. Despite favorable recovery rates for most patients, the potential for severe complications and fatalities reinforces the value of timely diagnosis and personalized management approaches. Further research is essential to refine diagnostic protocols, optimize treatment approaches, establish evidence-based guidelines, and improve long-term outcomes for children with pulmonary embolism.

Background: Mucoepidermoid carcinoma of the skin is an exceedingly rare neoplasm, with only a limited number of cases documented in the literature. Typically, mucoepidermoid carcinoma arises in the salivary glands, where it accounts for 30% of all malignant salivary gland tumors and generally presents as a low-grade malignancy with a low probability of metastasis.

Case presentation: We report a case of a 49-year-old female patient of African origin who presented to our tertiary center with a longstanding scalp lesion that had been present for approximately 10 years. Initially, the lesion was roughly the size of a tennis ball and remained stable until about 3 months prior to presentation, when it was excised at a peripheral primary health center. Unfortunately, no histological analysis or follow-up was conducted after the excision, and the lesion recurred, progressively increasing in size. The patient reported no cardinal B-symptoms or central nervous system symptoms at any point. Histopathological analysis of the recurrent mass confirmed a diagnosis of mucoepidermoid carcinoma, and a complete surgical excision was subsequently performed. Following surgery, the patient was referred to the national oncology center for radiotherapy as part of her comprehensive oncological management. She is currently 8 months post-excision, receiving radiotherapy, and exhibits no clinical signs of recurrence.

Conclusion: Mucoepidermoid carcinoma originating in cutaneous sites is particularly unusual and may stem from the embryonic development of ectopic salivary glands within the skin. In this case report, we describe a unique presentation of primary mucoepidermoid carcinoma on the scalp, which demonstrated aggressive characteristics with suspected metastasis to the vertebral body. This case highlights the importance of considering mucoepidermoid carcinoma in the differential diagnosis of scalp masses and underscores the need for further investigation into its pathogenesis and metastatic potential.