Journal of medical cases最新文献

{"title":"High-Sensitivity Flow Cytometric Detection of a Small Circulating Population of Nodal T-Follicular Helper Cell Lymphoma Angioimmunoblastic Type Cells.","authors":"Arianna Gatti, Silvia Franceschetti, Valentina Speziale, Viviana Beatrice Valli, Michela Draisci, Cristina Campidelli, Bruno Brando, Irene Cuppari, Alessandro Corso","doi":"10.14740/jmc5114","DOIUrl":"10.14740/jmc5114","url":null,"abstract":"<p><p>Nodal T-follicular helper cell lymphoma angioimmunoblastic type (nTFHL-AI) is a rare and aggressive neoplasm of mature T-follicular helper cells. nTFHL-AI is characterized by polyclonal hypergammaglobulinemia, hemolytic anemia, circulating immune complexes, and cold agglutinins. nTFHL-AI is also often associated with B-cell or plasma cell expansion, mimicking B-cell lymphomas or plasma cell neoplasms. Therefore, the diagnosis of nTFHL-AI can sometimes be challenging and requires a specific immunophenotypic panel. However, the peripheral blood involvement in nTFHL-AI seems rare and has not been frequently addressed in the literature. We report the case of a 54-year-old man with multiple lymphadenopathies, hepatosplenomegaly, and skin rash, complaining of asthenia. Peripheral blood smear showed plasmacytoid cells and red cell rouleaux. A first flow cytometry screening panel of peripheral blood disclosed marked polyclonal plasmacytosis (12%). No mature B lymphocytes were detectable. In the suspicion of an nTFHL-AI, another flow cytometric panel was performed, including CD3, CD4, CD5, CD7, CD8, and CD10. The high-sensitivity flow cytometry analysis disclosed a small circulating population of atypical T cells (0.07%) expressing CD4⁺, CD3⁺, CD5⁺, CD10⁺, partially CD7⁺, and negative for CD8. Moreover, anti-TCRβ-chain constant region 1 (TRBC1) antibody (JOVI-1) was used to confirm the T-cell clonal restriction of this abnormal population. Immunohistochemistry on excised lymph node sections was carried out and confirmed the diagnosis of nTFHL-AI. In this case, the unexpected detection of a small circulating population of nTFHL-AI cells by high-sensitivity flow cytometry has prompted an extensive diagnostic workup leading rapidly to the correct diagnosis.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 5","pages":"181-186"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144277287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.","authors":"Toshihiko Matsuo, Yasuhiro Onishi, Hiroshi Morinaga, Jun Wada, Takehiro Tanaka, Motoo Araki","doi":"10.14740/jmc4356","DOIUrl":"10.14740/jmc4356","url":null,"abstract":"<p><p>Senior-Loken syndrome is a hereditary ciliopathy with recessive trait that manifests as nephronophthisis and retinitis pigmentosa. This report described an 18-year-old woman who was referred to a University Hospital to set up a treatment plan for chronic renal failure of an unknown cause. She had experienced nocturnal polyurea from the age of 12 years and was found to have an elevated level of serum creatinine at 3 mg/dL at the age of 15 years. She underwent renal biopsy at a hometown regional hospital which showed global glomerulosclerosis in six of the 13 glomeruli examined, renal tubular dilation in irregular shape, and marked interstitial fibrosis with lymphocytic infiltration. At the age of 19 years, she received a living-donor kidney transplant from her 46-year-old father as a preemptive therapy. At surgery, biopsy of the father's donor kidney showed two glomeruli with global sclerosis out of 24 glomeruli examined, in association with minimal interstitial fibrosis and lymphocytic infiltration. She began to have extended-release tacrolimus 4 mg daily and mycophenolate mofetil 1,000 mg daily. According to the standard protocol, she underwent biopsy of the transplanted donor kidney to reveal interstitial fibrosis and lymphocytic infiltration, in addition to no sign of rejection and no glomerular deposition of immunoglobulins and complements, both 4 weeks and 14 months after the kidney transplantation. At the age of 23 years, 4 years after the kidney transplantation, she was, for the first time, diagnosed retinitis pigmentosa, and hence, Senior-Loken syndrome. She was followed up in the stable condition with basal doses of tacrolimus 5 mg daily, mycophenolate mofetil 1,000 mg daily, and prednisolone 5 mg daily up until now in 12 years after the kidney transplantation. The interstitial fibrosis with lymphocytic infiltration in the donor kidney might be a milder presentation of the disease with recessive inheritance.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 5","pages":"164-173"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144277289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment of Invasive Fungal Disease During Therapy for Acute Lymphoblastic Leukemia.","authors":"Ibrahim Alharbi, Amro Nassif, Yasser B Hennawi","doi":"10.14740/jmc5066","DOIUrl":"10.14740/jmc5066","url":null,"abstract":"<p><p>Invasive fungal diseases (IFDs) are one of the leading causes of death in acute leukemia (AL) patients. Because of the possibility of fungal relapse, patients who survive IFDs may have difficulty in completing the whole chemotherapy plan. Our case report presents two cases of IFD with aspergillosis in children with precursor B-cell acute lymphoblastic leukemia (pre-B-ALL). Two 9-year-old female patients were diagnosed with pre-B-ALL that were on the pre-B-ALL protocol: CALL08, Arm-C (high-risk arm), and the supportive therapy. They were both on Arm-C of the CALL08 protocol (high risk based on COG232). Then, the patients experienced severe febrile neutropenia. Patient 1 was during consolidation, and patient 2 was during interim maintenance I. Both experienced prolonged febrile neutropenia. As febrile neutropenia continued for more than 5 days, a fungal workup was conducted, including computed tomography (CT) scans of the sinuses, chest, and abdomen, as well as serum tests for galactomannan and (1→3)-β-D-glucan (BDG). Caspofungin treatment was started. Fungal workup results showed lung and liver nodules in one patient and lungs, liver, and spleen in the other. There were about 4 weeks of severe fevers and neutropenia, despite the use of broad-spectrum antibiotics. A decision was taken to interrupt chemotherapy for both patients. Voriconazole was added to caspofungin. Biopsies confirmed the diagnosis to be severe fungal infection with invasive aspergillosis. After that, high fevers and neutropenia slowly recovered, and a repeated CT scan of abdomen showed good improvement in the lesion's number and size. After 6 - 8 weeks of interruption, chemotherapy was resumed. We observed that with the implementation of combination antifungal therapy with voriconazole and caspofungin for 6 weeks and then single antifungal therapy (voriconazole orally) for another 6 weeks, both patients recovered and became clinically stable and afebrile. Chemotherapy was on hold till they became better. In conclusion, primary and secondary antifungal prophylaxis are recommended for ALL patients. Chemotherapy discontinuation is decided on an individual basis according to the severity of the fungal infection and disease status.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 5","pages":"174-180"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144277290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of High-Risk Myelodysplastic Syndrome With Cryoglobulinemia, Hemophagocytic Lymphohistiocytosis, and Progression to Multiple Organ Failure.","authors":"Carlene A Kranjac, Linzi M Hobbs, Kavanya Feustel, Karen-Sue Carlson","doi":"10.14740/jmc5134","DOIUrl":"10.14740/jmc5134","url":null,"abstract":"<p><p>Myelodysplastic syndromes (MDSs) are a group of hematological malignancies characterized by ineffective hematopoiesis. It is associated with genetic mutations, including p53 pathway genes, and can lead to complications, such as cytopenia and transformation to acute myeloid leukemia (AML). Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition that arises from immune dysregulation and often presents secondary to malignancies. Additionally, cryoglobulinemia, characterized by the precipitation of serum proteins at cooler temperatures, has been associated with infection, autoimmune disorders, and malignancies. A 59-year-old female recently diagnosed with high-risk MDS and a biallelic TP53 mutation presented to an outside hospital with persistent fevers. Initial evaluation revealed a <i>Klebsiella pneumoniae</i> urinary tract infection. Her condition rapidly deteriorated, and she developed acute kidney injury and respiratory failure, necessitating intensive care. She then developed HLH, indicated by elevated ferritin and CD25 levels despite a negative bone marrow biopsy for hemophagocytosis, which was then followed by cryoglobulinemia. The patient received corticosteroids for her HLH, plasmapheresis for her cryoglobulinemia, and a decitabine regimen for her MDS with gradual recovery of her organ function for a short time. She ultimately transformed to AML, requiring further intensive care before she passed away. The presence of a recently diagnosed high-risk MDS, HLH, cryoglobulinemia, and multi-organ failure emphasizes the complexity of this case. Despite meeting several diagnostic criteria for HLH, the patient's bone marrow biopsy was negative for histiocytosis, emphasizing diagnostic challenges. The presence of cryoglobulinemia potentially linked to immune dysregulation further emphasizes the complexity of this case. While treatment with corticosteroids, plasmapheresis, and immunosuppressants provided stability, they did not cure her condition. Existing literature describes associations between high-risk MDS and HLH as well as MDS and cryoglobulinemia, but none addresses associations between all three processes. This case highlights an unusual occurrence of MDS, HLH, and cryoglobulinemia, emphasizing the need for awareness of the complex interactions between these conditions. Given the high-risk nature of her MDS and her unique clinical manifestations, further investigation into the underlying mechanisms driving these processes is necessary to enhance recognition and therapeutic approaches for affected patients.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 5","pages":"187-193"},"PeriodicalIF":0.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12151121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144277286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Double Trouble in the Pericardium: A Rare Co-Infection of Tuberculosis and Tularemia Leading to Cardiac Tamponade.","authors":"Barbara Okeke, Ciri Pocha, Lanerica Rogers, Amber Stefanski, Christian Hendrix, Chien-Jung Lin","doi":"10.14740/jmc5124","DOIUrl":"https://doi.org/10.14740/jmc5124","url":null,"abstract":"<p><p>Cardiac tamponade attributed to co-infection with multiple pathogens is rare. A 40-year-old man who migrated from India 10 years prior with no medical history presented with a progressive dyspnea, night sweats, intermittent fevers, weight loss over a 3-month period, and a cough. An echocardiogram revealed cardiac tamponade and further biopsy revealed necrotizing granulomas with diffuse necrotic lymphadenopathy. Early anchoring bias led to an extensive tuberculosis (TB) workup which was initially negative. However, after broadening the differential, a co-infection of tularemia and latent extrapulmonary TB was identified as the etiology of cardiac tamponade. While tularemia in the setting of immunodepression has been identified as a cause for pericarditis, there is no current literature of a tularemia and TB co-infection causing cardiac tamponade. This case highlights the importance of expanding a differential diagnosis when the presentation does not fit the diagnosis, especially when a delay in management can be consequential.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"146-152"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Noncommunicating Hydrocephalus Caused by Aseptic Meningitis Can Be Treated With Endoscopic Third Ventriculostomy.","authors":"Ayumu Nitta, Yasuo Sasagawa, Mitsutoshi Nakada","doi":"10.14740/jmc5109","DOIUrl":"https://doi.org/10.14740/jmc5109","url":null,"abstract":"<p><p>Noncommunicating hydrocephalus is a rare complication of aseptic meningitis and is predominantly characterized by the obstruction of cerebrospinal fluid (CSF) absorption. Traditional treatment methods include external ventricular drainage (EVD) and ventriculoperitoneal (VP) shunt. However, endoscopic third ventriculostomy (ETV) might also be effective in the case of aseptic meningitis. A 19-year-old woman presented with fever, lymphadenopathy, and arthritis, followed by headache and vomiting. Magnetic resonance imaging (MRI) showed no hydrocephalus. CSF analysis revealed mild pleocytosis and elevated protein levels, with negative cultures, leading to the diagnosis of aseptic meningitis. After an initial recovery with supportive care, the patient returned a month later with an acute progressive headache and altered consciousness. Computed tomography (CT) revealed lateral and third ventricular enlargement, while MRI showed cerebellar swelling and foraminal adhesions, indicative of obstructive hydrocephalus. ETV was performed through the right anterior horn of the lateral ventricle. Postoperative recovery was uneventful, and the patient remained asymptomatic after steroid treatment. ETV is a viable option for treating noncommunicating hydrocephalus associated with aseptic meningitis, even when CSF malabsorption is present.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"135-139"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary Arterial Hypertension in a Patient With Metastatic Lung Cancer on Pembrolizumab: Whom to Blame?","authors":"Lakshmi Manogna Chintalacheruvu, Vamsi Krishna Chilluru, Narendra Babu Gutta","doi":"10.14740/jmc5115","DOIUrl":"https://doi.org/10.14740/jmc5115","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs) play a major role in current cancer treatments. They are associated with immune-mediated side effects due to immune dysregulation. ICI-mediated complications are more commonly known to affect thyroid gland, gastrointestinal system, skin, etc. Pulmonary arterial hypertension (PAH) due to ICIs is not very well described in the literature. Here, we report a case of severe PAH diagnosed in a patient with metastatic lung cancer on long-term pembrolizumab and literature review.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"153-157"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perioperative Care of a Child With Molybdenum Cofactor Deficiency.","authors":"Edison E Villalobos, Ifeoluwa C Olakunle, Joseph D Tobias, Ashley Smith","doi":"10.14740/jmc5111","DOIUrl":"https://doi.org/10.14740/jmc5111","url":null,"abstract":"<p><p>Molybdenum is a trace mineral that is a key component of several enzyme systems. In the human body, molybdenum is complexed with a pterin-based molybdenum cofactor (MOCO), to form the active center of molybdenum-based enzymes. MOCO is synthesized in a four-step process involving six proteins, iron, ATP, and copper. Defects in any of the individual genes involved in this biosynthesis can result in molybdenum cofactor deficiency (MoCD). MoCD is an autosomal recessive disorder with an estimated incidence of 1 in 100,000 - 200,000 live births. Although most patients appear normal at birth, intractable seizures typically develop within hours to days of life, along with feeding difficulties, and subsequent microcephaly, brain atrophy, and severe developmental delay. Mortality is high, with a reported median survival of 2.4 to 3 years. Given the associated end-organ involvement, anesthetic management may be required during radiologic imaging or surgery procedures. We present a 6-year-old child with MoCD type A, who required anesthetic care for a magnetic expansion control (MAGEC) rod insertion with posterior spinal instrumentation under general anesthesia. End-organ involvement of MoCD is presented, previous reports of anesthetic care reviewed, and options for perioperative management discussed.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"140-145"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Case of Pancreatic Adenocarcinoma Metastasis to the Trapezium Bone.","authors":"Kyle S Gordon, Talwinder Nagi, Raksha Sharma, Michael Mamone, Stephane Buteau, Warren Brenner","doi":"10.14740/jmc4282","DOIUrl":"https://doi.org/10.14740/jmc4282","url":null,"abstract":"<p><p>Pancreatic adenocarcinoma is an aggressive malignancy that accounts for over 90% of pancreatic cancers. It is associated with a poor prognosis and a 5-year survival rate of less than 10%. In 2023, there were an estimated 64,050 new cases of pancreatic cancer and 50,550 related deaths. Common sites of metastasis include the liver, lungs, lymph nodes, and peritoneal cavity. While bone metastases can occur, metastatic disease involving the bones of the hand is exceedingly rare. In this report, we present a case of metastatic pancreatic cancer involving the trapezium bone of the hand, along with a review of the literature.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"131-134"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inadvertent Intra-Arterial Administration of Rocuronium During Anesthetic Care in a Sixteen-Year-Old Patient.","authors":"Collin Reeves, Seth Hayes, Ahsan Syed, Joseph D Tobias","doi":"10.14740/jmc5106","DOIUrl":"https://doi.org/10.14740/jmc5106","url":null,"abstract":"<p><p>The inadvertent intra-arterial (IA) injection of medications can result in significant clinical sequelae, including paresthesia, pain, loss of motor function, compartment syndrome, gangrene, and loss of digits or limb. We present the inadvertent IA administration of rocuronium during intraoperative anesthetic care of a 16-year-old patient. Following the inhalation of incremental concentrations of sevoflurane in nitrous oxide and oxygen, an intravenous (IV) cannula was placed in the left antecubital fossa. Rocuronium was administered through an IV cannula to facilitate endotracheal intubation. The forearm and hand became mottled and it was determined that the cannula was in the brachial artery. During the ensuring 2 h, there was a gradual return of the extremity to its baseline appearance. The patient was discharged home and no further sequelae were noted. Previous reports of the IA injection of neuromuscular blocking agents are reviewed, techniques to prevent such problems discussed, and a pathway for treatment outlined.</p>","PeriodicalId":101328,"journal":{"name":"Journal of medical cases","volume":"16 4","pages":"127-130"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}