Journal of Medical Case Reports最新文献

Background: Sacituzumab-govitecan-related pulmonary toxicity is rare. Herein, we describe a case of sacituzumab-govitecan-induced interstitial pneumonitis that was successfully rechallenged with a reduced drug dose.

Case presentation: A 62-year-old Taiwanese female patient with metastatic triple-negative breast cancer was refractory to the previous four lines of chemotherapy. She was subsequently given therapy with sacituzumab govitecan (10 mg/kg). After the second cycle, she developed progressive dyspnea, dry cough, and diarrhea. Chest computed tomography revealed diffuse ground grass opacity of the bilateral lungs with multiple foci of black area (reverse hall sign) and thickening of the interlobular septa. In the absence of other potential causes, sacituzumab-govitecan-induced grade 3 interstitial pneumonitis was strongly suspected, with a Naranjo score of 7. Sacituzumab govitecan discontinuation and corticosteroid therapy (prednisolone 2 mg/kg/day) were initiated. Her clinical symptoms and radiographic pulmonary infiltrations were significant improvement within 1 week. Sacituzumab govitecan was rechallenged in half dose due to lack of alternative treatment for the metastatic triple-negative breast cancer. She completed four additional cycles without recurrent pneumonitis before disease progression. The progression-free survival was 5.37 months.

Conclusion: Sacituzumab govitecan is a new generation of antibody-drug conjugates. Early detection of drug-induced interstitial lung disease, drug discontinuation ,and immediate steroid therapy are important. Permanent antibody-drug conjugates discontinuation is advised for patients with grade ≥ 2 drug-induced interstitial lung disease. In this case, due to the limited treatment for metastatic triple-negative breast cancer, the patient was rechallenged with half dose of sacituzumab govitecan without recurrent pneumonitis.

Background: Coronavirus disease 2019, is an infectious disease caused by the severe acute respiratory syndrome corona virus type-2 virus. Children affected are usually asymptomatic and those that have symptoms tend to be milder and infants are most at risk for severe disease. We describe the first two cases of coronavirus disease 2019 deaths among infants with complication of severe acute malnutrition in Sierra Leone. In the first half of June 2020, Kenema district reported first two coronavirus disease 2019 deaths of infants in Sierra Leone. We conducted a death review to understand the underlying medical conditions and predisposing factors of the deaths given the rarity of death among children with coronavirus disease 2019 disease. We describe the clinical presentation of the cases and their possible underlying medical conditions.

Case presentation: The two infant decedents were 8-month-old male and 6-month-old female Sierra Leoneans who presented with fever, vomiting, and flu-like symptoms and had complications of severe acute malnutrition and were coinfected with coronavirus disease 2019. Both patients developed severe respiratory distress which were not resolved with antibiotics and oxygen therapy. In addition, the diagnosis of coronavirus disease 2019 infection in both cases were also delayed due to low index of suspicion, and lack of treatment for coronavirus disease 2019 exacerbated their likelihood of death.

Conclusion: The severe acute malnutrition made the infants prone to severe coronavirus disease 2019 disease and thus led to their death. We recommend community sensitization on good nutrition for infants to increase the chance of survival of children with coronavirus disease 2019 infection.

Background: Hemophagocytic lymphohistiocytosis is a rare but life-threatening hyperinflammatory syndrome that can be triggered by infections, malignancies, and autoimmune diseases.

Case presentation: We present a case of hemophagocytic lymphohistiocytosis secondary to severe leptospirosis in a 59-year-old Latin American male with no medical history of relevance, which is rarely reported in the literature. One week prior to admission, the patient presented with frontal headache, fever, hyporexia, choluria, jaundice, and hepatomegaly. Sepsis was initially suspected. After antibiotic therapy, his condition deteriorated, leading to acute kidney injury and respiratory failure. Serology and dark-field microscopy in urine and blood were requested and reported positive for Leptospira. Bone marrow aspiration confirmed hemophagocytic lymphohistiocytosis. Treatment with corticosteroids led to clinical and laboratory improvement.

Conclusion: This case highlights the need for early recognition of hemophagocytic lymphohistiocytosis in patients with sepsis-like syndromes unresponsive to standard therapy.

Background: Drug reaction with eosinophilia and systemic symptoms is a rare but serious hypersensitivity reaction, typically occurring 2-8 weeks after drug initiation. It presents with rash, fever, hematological abnormalities, and multi-organ involvement, most commonly affecting the liver, kidneys, and lungs. Allopurinol is a well-recognized trigger, particularly in patients with renal impairment. This case is notable owing to the patients' previous donor nephrectomy, rather than intrinsic renal disease.

Case presentation: A 76-year-old white British male with a history of donor nephrectomy and stable renal function (baseline estimated glomerular filtration rate 50 mL/minute/1.73 m²) presented to the emergency department with confusion, hypotension, hypoxia, and a widespread morbilliform rash. Laboratory tests revealed severe acute kidney injury. A vasculitis screen, renal ultrasound, and computed tomography imaging of his solitary kidney were unremarkable. Further history found recent allopurinol use for gout 3 weeks prior to admission. He was diagnosed with allopurinol-induced drug reaction with eosinophilia and systemic symptoms syndrome and treated successfully with a short course of corticosteroids.

Conclusion: This case highlights the importance of a clear medication history when assessing a patient with cutaneous and systemic symptoms. It highlights that drug reaction with eosinophilia and systemic symptoms is a rare, but an important differential to consider, particularly in patients with underlying kidney dysfunction, even in those without intrinsic kidney disease.

Background: Microdeletions and microduplications are chromosomal variants ranging up to 3 Mb in size. These abnormalities often arise spontaneously and have significant clinical implications, including developmental delay and congenital anomalies. Given the resolution of conventional preimplantation genetic testing for aneuploidy is > 5-10 Mb, these clinically significant abnormalities are missed. This study presents two cases where preimplantation genetic testing-whole genome sequencing successfully identified small, clinically significant abnormalities.

Case presentation: In the first case, a couple undergoing in vitro fertilization opted to pursue preimplantation genetic testing-whole genome sequencing. Both the female patient (of East Asian ancestry, 32 years old) and the male patient (of European ancestry, 31 years old) did not disclose any history of genetic conditions. A screen of 50 pathogenic microdeletion and microduplication regions was performed in trophectoderm biopsies, identifying a 1.7-Mb microduplication at Xp22.31, linked to seizures, across multiple samples. The female patient later revealed a history of seizures, previously unaware of a genetic cause, highlighting the clinical relevance of this finding. In the second case, a couple of South Asian ancestry (34-year-old female and 36-year-old male) opted to pursue preimplantation genetic testing-whole genome sequencing for targeted screening of a 412-kb duplication on chromosome 10. Since the duplication had originated de novo in the male patient, the patient lacked informative family members for traditional preimplantation genetic testing probe development and was rejected by other preimplantation genetic testing laboratories. However, preimplantation genetic testing-whole genome sequencing successfully accommodated this region, enabling the identification of unaffected embryos.

Conclusion: Preimplantation genetic testing-whole genome sequencing offers higher chromosomal resolution than conventional preimplantation genetic testing, enabling general microdeletion/duplication screening as well as the detection of difficult chromosomal variations. Patients undergoing in vitro fertilization now have the option to screen for additional clinically relevant conditions and explore family planning solutions for familial complex chromosomal abnormalities.

Background: Managing synchronous cancers can be complex, often requiring multiple agents, which increases the risk of adverse drug reactions that could negatively impact patient survival. The risk of chemotherapy-induced infertility may also be higher, making pregnancy nearly impossible. The aim is to report long-term survival and successful pregnancy in a 30-year-old Nigerian woman with synchronous BCR::ABL1 positive chronic myeloid leukemia and B-cell non-Hodgkin lymphoma.

Case presentation: The patient is a 30-year-old Nigerian woman referred by a general practitioner with a diagnosis of synchronous BCR::ABL1 positive chronic phase chronic myeloid leukemia and B-cell non-Hodgkin lymphoma. The patient was managed concurrently with a combination of R-CHOP and imatinib mesylate and achieved remission; 5 years into therapy, the patient was lost to follow-up, only to present to the clinic 2 years later with a 1-month-old baby boy. Re-evaluation showed a loss of hematological and molecular remission in chronic myeloid leukemia but not in non-Hodgkin lymphoma. Breastfeeding was stopped and then resumed on imatinib. She subsequently went into remission and is currently doing well on imatinib.

Conclusion: Although managing multiple cancers in an individual may be challenging, we reported long-term survival and successful pregnancy in a 30-year-old Nigerian woman with concurrent chronic myeloid leukemia and non-Hodgkin lymphoma.

Background: Epstein-Barr virus infection is common. However, to our knowledge, it has never been reported to cause synchronous acute acalculous cholecystitis and acute pancreatitis alongside hepatitis. This case highly suggests the potential for novel multiorgan involvement.

Case presentation: A 32-year-old Asian male patient presented with high-grade fever, abdominal pain, and jaundice. Comprehensive diagnostic evaluation confirmed acute hepatitis, acute acalculous cholecystitis, and acute pancreatitis. Histopathological examination of lymph node and liver biopsy specimens identified Epstein-Barr virus infection as the underlying cause of all three conditions. The patient was treated with dexamethasone at a dose of 5 mg per day combined with acyclovir. Significant clinical improvement was observed, and the patient was subsequently discharged.

Conclusion: This is the first reported case of concurrent Epstein-Barr-virus-induced hepatitis, acute acalculous cholecystitis, and acute pancreatitis. The patient's full recovery through nonsurgical management, including antiviral and antiinflammatory therapies, may provide valuable insights for future clinical practice.

Background: Renal cell carcinoma is the most common malignancy involving the kidney. This cancer has a propensity for extensive invasion and metastatic spread. Tumor thrombus invasion into the inferior vena cava or renal vein occurs in less than 15% of patients with late stage renal cell carcinoma. Further extension up the inferior vena cava into the chambers of the heart is exceedingly rare, documented in less than 1% of all cases.

Case presentation: Here, we report a case of renal cell carcinoma presenting with what appeared to be an acute exacerbation of right-sided congestive heart failure and fluid overload in a 59-year-old African American male patient. Subsequent imaging revealed the presence of a primary renal cell carcinoma, diffuse metastatic lesions, and intravascular tumor thrombus extension from the inferior vena cava into the right atrium.

Conclusion: This case highlights the diagnostic challenges of RCC due to its diverse metastatic potential and propensity for multisystem complications. Furthermore, it emphasizes the importance of considering a broad range of possibilities in the clinical context of suspected occult malignancy.

Background: Thoracic endometriosis syndrome is an uncommon condition defined by the existence of functional endometrial tissue outside of the uterine cavity, specifically in the pleura, lung parenchyma, or airways. We present a case report of catamenial chest pain and hemothorax, highlighting our personal experience with the diagnosis and management of this rare disease. Our case report covers the pathogenesis, clinical presentation, diagnostic workup, and treatment of thoracic endometriosis syndrome.

Case presentation: We report a case of a 24-year-old female Black African university graduate who presented with cyclical chest pain and shortness of breath that occurred around the time of her menses. She also experienced severe dysmenorrhea and menorrhagia. Physical examination and imaging studies revealed a right-sided pleural effusion with a chocolate-colored aspirate, suggestive of thoracic endometriosis. The patient was treated with needle thoracocentesis and continuous combined oral contraceptive pills, which led to the resolution of her symptoms. She remains on long-term follow-up.

Conclusion: This case highlights the challenges of diagnosing and treating thoracic endometriosis syndrome in a low-resource setting. It also underscores the importance of considering this condition in the differential diagnosis of cyclical chest pain and shortness of breath in women of reproductive age. With prompt and appropriate treatment, significant improvement in symptoms can be achieved. Furthermore, despite the challenging local context and the patient's preference, the managing team strove to provide the patient with a personalized treatment plan, taking into account her unique needs and preferences. This approach to care not only demonstrated a patient-centered approach but also emphasized the importance of effective communication, empathy, and understanding in the healthcare setting.

Background: Burkitt's lymphoma is a highly aggressive B cell non-Hodgkin lymphoma that typically presents with abdominal tumors or jaw involvement, depending on the variant. Involvement of the skull base or paravertebral regions and associated symptoms such as hearing loss are exceedingly rare in Burkitt's lymphoma. This case highlights the diagnostic challenges when Burkitt's lymphoma presents with such uncommon manifestations in an adult patient.

Case presentation: We report a case of a 36-year-old South Asian male individual who presented with generalized body pain, fever, headache, and epigastric discomfort, later developing right-sided facial palsy and hearing loss. Examination revealed mild icterus, lymphadenopathy, and signs of cranial nerve VII involvement. Imaging showed an ill-defined mass at the skull base extending into paravertebral spaces. A comprehensive workup found hematological abnormalities (mild anemia, severe thrombocytopenia) and evidence of hepatic dysfunction. Serologies were notable for positive Epstein-Barr virus IgG. Biopsy of the lesion confirmed Burkitt's lymphoma, demonstrating the characteristic "starry sky" pattern and a near-100% Ki-67 proliferation index. Immunophenotyping was positive for CD20 and leukocyte common antigen, consistent with high-grade B cell lymphoma. Despite initiation of diagnostic procedures, the patient's condition deteriorated rapidly. He opted to return to his home country and unfortunately passed away 2 weeks after diagnosis, before definitive therapy could be administered.

Conclusion: This case underscores the importance of recognizing atypical presentations of Burkitt's lymphoma, such as skull base involvement and hearing loss. A high index of suspicion and a multimodal diagnostic approach (imaging and histopathology) were crucial for accurate diagnosis. Early identification of such rare presentations is vital to initiate prompt, appropriate therapy and improve patient outcomes.