Archive of clinical cases最新文献

{"title":"Secondary hemophagocytic lymphohistiocytosis mimicking sepsis in hepatitis A-E coinfection: spontaneous recovery with supportive care.","authors":"Gourab Bhaduri, Mekhala Paul, Bijan Basak, Ashif Ali Ahmed","doi":"10.22551/2026.51.1302.10340","DOIUrl":"10.22551/2026.51.1302.10340","url":null,"abstract":"<p><p>Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by dysregulated immune activation. Viral infections, particularly Epstein-Barr virus, are well-known triggers; however, HLH associated with acute viral hepatitis is rare, especially in the setting of hepatitis A (HAV) and hepatitis E (HEV) coinfection. A 30-year-old man presented with fever following the onset of jaundice, along with fatigue and dyspnea. Laboratory evaluation revealed severe hyperbilirubinemia, markedly elevated transaminases, anemia, hyperferritinemia, and hypertriglyceridemia. He also had hemolysis due to glucose 6 phosphate dehydrogenase(G6PD) deficiency. Bone marrow examination demonstrated hemophagocytosis. Viral m arkers confirmed HAV and HEV coinfection. Although he fulfilled five out of eight HLH-2004 criteria, sepsis markers like raised procalcitonin and leukocytosis posed diagnostic challenge. He was managed with supportive care alone, and showed spontaneous clinical and biochemical improvement without immunosuppressive therapy. This case highlights a probable HLH spectrum disorder triggered by HAV-HEV coinfection. It underscores the importance of considering HLH in patients with acute viral hepatitis who develop persistent fever and cytopenia, while also recognizing that selected patients may improve with supportive care alone.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 2","pages":"43-46"},"PeriodicalIF":0.7,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674608","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":"Synchronous medullary carcinoma of the pancreas and non-ampullary duodenal adenocarcinoma.","authors":"Lily D'Avila, Jing Yang Tee, Aryan Sharma, Edward Alabraba, Abed M Zaitoun","doi":"10.22551/2026.51.1302.10342","DOIUrl":"10.22551/2026.51.1302.10342","url":null,"abstract":"<p><p>Synchronous primary malignancies involving the pancreas and duodenum are rare and distinguishing them from direct extension or metastatic spread may be difficult in the periampullary region. We report a 73-year-old man who initially presented with upper gastrointestinal bleeding and was later investigated for weight loss, abdominal pain, dyspepsia, and abnormal liver biochemistry. Preoperative imaging and biopsy identified poorly differentiated adenocarcinoma involving the pancreatic and duodenal region, but the relationship between the lesions remained uncertain. Following pancreaticoduodenectomy, two macroscopically separate tumor sites were identified. Histological examination showed that the pancreatic tumor had features of medullary carcinoma, including syncytial growth, pushing borders, marked lymphocytic infiltration, and mismatch repair deficiency. In contrast, the duodenal tumor showed glandular differentiation, infiltrative invasion, and desmoplastic stroma, but also deficient mismatch repair. Lymph node involvement was seen with the pancreatic tumor but not the duodenal lesion. This case suggested that synchronous primary tumors should remain in the differential diagnosis when adjacent periampullary lesions show discordant pathological features, and that definitive classification may require integration of gross examination, morphology, selected immunohistochemistry, mismatch repair status, and nodal disease pattern on the resection specimen. The underlying diagnosis of Lynch syndrome provides a novel pathogenesis for these genetically related yet distinct tumors. This diagnosis was important not only for understanding tumor pathogenesis but also for ongoing surveillance and family counselling.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 2","pages":"56-66"},"PeriodicalIF":0.7,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674645","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":"Complementary roles of ¹⁸F-FDG and ⁶⁸Ga-pentixafor PET/CT in gastric MALT lymphoma.","authors":"Yang Wu, Wei Fu, Xueqin Zhao, Zhenzhen Wang","doi":"10.22551/2026.51.1302.10345","DOIUrl":"10.22551/2026.51.1302.10345","url":null,"abstract":"<p><p>Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is a low-grade indolent B-cell non-Hodgkin lymphoma, for which conventional ¹⁸F-FDG PET/CT has limited sensitivity in detecting lesions with low proliferative activity. This report describes a 58-year-old male who presented with upper abdominal tenderness and pain, with no gastrointestinal bleeding or weight loss, and a negative <i>Helicobacter pylori</i> test. Contrast-enhanced CT detected gastric wall thickening at the gastric greater curvature, and endoscopic biopsy combined with immunohistochemistry confirmed gastric MALT lymphoma with a low Ki-67 proliferation index of 10%.¹⁸F-FDG PET/CT revealed mildly increased metabolism. Dual-modality imaging using ¹⁸F-FDG and ⁶⁸Ga-pentixafor precisely delineated the lesion, assessed lymph node involvement, and determined the clinical stage, providing critical information for clinical treatment decisions. This typical case offers great teaching implications for nuclear medicine physicians by highlighting the diagnostic pitfall of weak FDG uptake in low-proliferative gastric MALT lymphoma and demonstrating the incremental value of dual-tracer imaging for standardized staging.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 2","pages":"82-86"},"PeriodicalIF":0.7,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435602/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674514","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 rare <i>de novo</i> prenatal case of Down syndrome due to der(21;21)(q10;q10).","authors":"Ileana-Delia Manea-Sabau, Antoanela Curici, Lavinia Lucuta, Tudor Ciurea, Maria Riza, Viorel Suciu-Lazar, Remus Anton, Iuliana Ceausu","doi":"10.22551/2026.51.1302.10344","DOIUrl":"10.22551/2026.51.1302.10344","url":null,"abstract":"<p><p>Down syndrome (DS) is the most common chromosomal abnormality in the human population, most frequently caused by trisomy 21 due to meiotic nondisjunction. Rarely, DS may result from an isochromosome or a Robertsonian translocation, this being the least common variant. We present a rare prenatal case of Down syndrome caused by a derivative chromosome 21, together with a case-based review of previously reported prenatal der(21;21)/i(21q) rearrangements. We report a case of prenatal diagnosis of DS in a 13-week female fetus, characterized by a derivative chromosome 21, der(21;21)(q10;q10), identified by conventional karyotyping and subsequently confirmed by fluorescence in situ hybridization (FISH). First-trimester ultrasonography showed bilateral jugular lymphatic sacs, marked tricuspid regurgitation, and a single umbilical artery. Quantitative fluorescence polymerase chain reaction (QF-PCR) failed to detect the structural chromosomal abnormality. The rearrangement was considered likely <i>de novo</i> based on normal parental karyotypes. Consequently, the empirical recurrence risk is 1% for <i>de novo</i> cases, whereas in families with a parental 21q;21q rearrangement the recurrence risk may approach 100%. This case highlights the importance of integrating detailed ultrasound screening with molecular and cytogenetic techniques, including QF-PCR, conventional karyotyping, and FISH, for accurate prenatal diagnosis of DS. Precise determination of the underlying chromosomal abnormality is essential for providing accurate genetic counseling, estimating recurrence risk, and facilitating informed reproductive planning for the parents.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 2","pages":"74-81"},"PeriodicalIF":0.7,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13435600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674538","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":"Pneumocephalus and delayed hydrocephalus following endoscopic endonasal biopsy of skull base lesion: diagnostic pitfalls and the role of immunohistochemistry.","authors":"Adil Ugur Yavuz, Mehmet Aktoklu, Eda Altunbag Yavuz, Ugur Yazar","doi":"10.22551/2026.50.1301.10333","DOIUrl":"10.22551/2026.50.1301.10333","url":null,"abstract":"<p><p>The endoscopic endonasal approach (EEA) has been increasingly utilized for interventions involving the middle cranial base because of its close anatomical relationship with the nasal cavity and nasopharynx. This technique is widely applied in neurosurgical and otorhinolaryngological practice for the management of pituitary lesions, sellar and parasellar pathologies, sphenoid sinus tumors, cavernous sinus lesions, and tumors of the nasal cavity and nasopharynx, offering improved surgical access and patient comfort. Endoscopic procedures may be associated with serious complications, including intracranial hemorrhage, pneumocephalus, cerebrospinal fluid (CSF) leakage, infection, and cranial nerve injury, which can occur in both early and late postoperative periods. We report a patient who developed early postoperative pneumocephalus, intracerebral hemorrhage, and CSF leakage following endoscopic endonasal biopsy of a lesion adjacent to the mid-cranial base. Based on clinical and radiological findings, the lesion was initially suspected to represent nasopharyngeal carcinoma. Therefore, the patient underwent an endoscopic endonasal biopsy rather than gross total resection. Histopathological and immunohistochemical analyses subsequently established the diagnosis of meningioma. Two weeks postoperatively, the patient developed CSF leakage, pneumocephalus, and intracerebral hemorrhage, and the skull base defect was repaired via an EEA. Subsequently, the patient developed hydrocephalus in the mid-to-late postoperative period, which was successfully treated with ventriculoperitoneal shunt placement, resulting in complete clinical recovery. This case highlights the need for close clinical and radiological follow-up not only in the early period but also in the mid-to-late postoperative periods. Furthermore, radiological findings suggestive of malignancy may be inconsistent with immunohistochemical results; this underscores the critical role of immunohistochemical examination in determining definitive diagnosis and prognosis.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 1","pages":"5-10"},"PeriodicalIF":0.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13142664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846825","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":"Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases.","authors":"Anahita Tewari Kodali, Eduardo Rene Schrunder, Linda Skewes Kennedy, Mary D Chamberlin, César Ulises Alas Pineda","doi":"10.22551/2026.50.1301.10336","DOIUrl":"10.22551/2026.50.1301.10336","url":null,"abstract":"<p><p>Homocystinuria (HCU) is a rare autosomal recessive metabolic disorder, characterized by a mutation in the enzyme cystathionine beta-synthase and abnormally high levels of homocysteine in the blood. HCU that runs in a family is rare; prior to this report, there have been only 150 familial cases described in the literature. Here, we describe a familial cluster of HCU in four children in \"Family V,\" a consanguineous indigenous family from rural Honduras with a 10-year clinical follow up. We describe the diagnosis, presentation and progression of three patients who were diagnosed in 2015; critical findings include substantial vision loss in Patients 1 and 2, and a significant decline in language ability in Patient 3. We also describe the presentation of Patient 4, a grandchild who we diagnosed with probable HCU based on symptoms very similar to his siblings and highly suspicious for HCU. Additionally, we completed a narrative review of previously published familial HCU cases, using PubMed and Google Scholar, to highlight common phenotypic trends in familial HCU patients. In the reported familial cases, 57% had CNS complications, 48% had ocular complications, and 30% had cardiovascular complications.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 1","pages":"19-25"},"PeriodicalIF":0.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13154418/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147870466","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":"Total occlusive thrombosis of the abdominal aorta following holmium laser lithotripsy and ureteroscopy.","authors":"Tawfiq Almezeiny","doi":"10.22551/2026.50.1301.10335","DOIUrl":"10.22551/2026.50.1301.10335","url":null,"abstract":"<p><p>Abdominal aortic thrombosis (AAT) is a rare condition with substantial morbidity and mortality risk if not treated promptly. AAT typically occurs in postoperative patients, particularly those with certain risk factors. Here, we present the case of a urology patient who underwent ureteroscopy and laser lithotripsy for ureterolithiasis. During the postoperative period, the patient was re-admitted with a massive intra-abdominal arterial thrombosis involving the iliac and renal arteries and abdominal aorta. Emergency thrombectomy, angioplasty, and catheter-directed thrombolysis were performed in multiple stages. After a complex postoperative course in the intensive care unit, the patient survived and was discharged in stable condition.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 1","pages":"15-18"},"PeriodicalIF":0.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13142661/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846800","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":"Recurrent spatial disorientation and amnestic episodes associated with lung adenocarcinoma: a serum- and CSF-negative paraneoplastic case.","authors":"Jing Huang, Bo Zuo, Yanhui Shi, Jiansheng Liu, Junwen Li, Wenwei Li","doi":"10.22551/2026.50.1301.10334","DOIUrl":"10.22551/2026.50.1301.10334","url":null,"abstract":"<p><p>Recurrent seizure-like episodes with preserved motor function and negative conventional investigations pose a significant diagnostic challenge, particularly in elderly patients. We report an elderly patient presenting with recurrent, stereotyped episodes of spatial disorientation and amnesia. Extensive evaluation, including brain MRI, cerebrospinal fluid analysis, electroencephalography, serum tumor markers, and neuronal antibody testing, was unrevealing. The patient did not meet the 2016 criteria for possible autoimmune encephalitis. A previously monitored pulmonary nodule was surgically resected and confirmed as lung adenocarcinoma. Remarkably, neurological episodes completely resolved following tumor resection and did not recur after discontinuation of antiseizure medication during 10 months of follow-up. This case highlights a potential tumor-related seizure-associated network dysfunction in the absence of detectable antibodies or overt limbic inflammation. Careful tumor evaluation should be considered in similar diagnostic dilemmas, even when conventional autoimmune markers are negative.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 1","pages":"11-14"},"PeriodicalIF":0.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13142663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846748","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":"Transvaginal dialysate leak via patent fallopian tubes following peritonitis in a CAPD patient.","authors":"Zhi Ying Tan, Abosede Bankole","doi":"10.22551/2026.50.1301.10332","DOIUrl":"10.22551/2026.50.1301.10332","url":null,"abstract":"<p><p>Transvaginal leakage of peritoneal dialysate is an uncommon non-infectious complication of peritoneal dialysis (PD) and may be overlooked in female patients presenting with unexplained vaginal fluid loss. A 78-year-old woman with end-stage renal disease (ESRD) on continuous ambulatory peritoneal dialysis (CAPD) presented with a one-week history of clear per vaginal leakage. This episode developed following an initial presentation of PD peritonitis for which she was receiving antibiotic therapy. She reported the onset of clear vaginal leakage during a routine clinic visit for monitoring of her vancomycin level, prompting her admission for further evaluation. On clinical examination, the patient was afebrile and hemodynamically stable. Abdominal examination was satisfactory, however, speculum examination showed pooling of clear fluid in the vagina without evidence of vaginal or cervical pathology. Subsequent CT peritoneography demonstrated contrast-filled dialysate tracking from the peritoneal cavity, passing through bilaterally patent fallopian tubes into both the endometrial and vaginal cavities. Interestingly, there was no evidence of vaginal wall perforation or an abnormal fistulous connection identified. Given the absence of a correctable fistulous tract, PD was discontinued and the patient was transitioned to hemodialysis, resulting in complete resolution of symptoms. Although rare, physiological tubal patency can provide a conduit for dialysate leakage in PD patients, particularly following recent peritonitis. This mechanism is especially uncommon in post-menopausal women, highlighting the novelty of this case. Clinicians should maintain a high index of suspicion for this rare complication in women presenting with new-onset vaginal fluid loss. Early recognition and appropriate modality change may prevent recurrence.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"13 1","pages":"1-4"},"PeriodicalIF":0.7,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13142662/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846776","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":"Thrombotic thrombocytopenic purpura in a patient with systemic lupus erythematosus after anifrolumab: a possible association.","authors":"Albader Hamza Hussein, Mohamed E Badran, Bayan Lafi Altamimi","doi":"10.22551/2025.49.1204.10330","DOIUrl":"10.22551/2025.49.1204.10330","url":null,"abstract":"<p><p>Anifrolumab, an inhibitor of the type I interferon receptor, is increasingly used for moderate to severe systemic lupus erythematosus (SLE). Although clinical trials report a favorable safety profile, real-world data remain limited. A 32-year-old woman with long-standing SLE developed fever, mucocutaneous bleeding, confusion, and seizures approximately ten weeks after initiating anifrolumab. Laboratory evaluation demonstrated microangiopathic hemolytic anemia, severe thrombocytopenia, elevated lactate dehydrogenase, and markedly reduced ADAMTS13 activity (10%). Other causes of thrombotic microangiopathy were excluded. The patient received plasma exchange, corticosteroids, caplacizumab, and rituximab, resulting in full neurologic and hematologic recovery. The close temporal relationship between anifrolumab initiation and onset of immune-mediated thrombotic thrombocytopenic purpura raises a possible drug-related association, although causality cannot be established from a single case. Clinicians should remain vigilant for new cytopenia or neurologic symptoms in patients starting interferon-pathway-targeted biologic therapy. Further pharmacovigilance is required to determine whether this represents a coincidental occurrence or a signal of potential risk.</p>","PeriodicalId":72274,"journal":{"name":"Archive of clinical cases","volume":"12 4","pages":"154-156"},"PeriodicalIF":0.6,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12814899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146013543","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}