American Journal of Case Reports最新文献

{"title":"Fatal Acute Necrotizing Encephalopathy in a 17-Year-Old Girl with COVID-19: A Case Report.","authors":"Jianming Zhu, Yanling Li, Jianyi Liu, Chaojun Zhou, Xianglin Liu, Yiyi Ding","doi":"10.12659/AJCR.946932","DOIUrl":"https://doi.org/10.12659/AJCR.946932","url":null,"abstract":"<p><p>BACKGROUND Acute necrotizing encephalopathy (ANE) is a severe and rapidly progressive form of encephalopathy predominantly observed in children following various systemic infections. Although rare, cases of ANE have been increasingly associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This report details a fatal case of ANE in a 17-year-old girl diagnosed with coronavirus disease 2019 (COVID-19), emphasizing the critical need for early diagnosis and prompt intervention to improve clinical outcomes. CASE REPORT A previously healthy 17-year-old girl presented with a 3-day history of fever followed by onset of seizures and consciousness disorders after testing positive for SARS-CoV-2. Cranial magnetic resonance imaging (MRI) revealed bilateral symmetrical thalamus, which is a typical imaging presentation of ANE. Cerebrospinal fluid (CSF) examination revealed a normal cell count. Differential diagnoses such as acute disseminated encephalomyelitis (ADEM) and Leigh syndrome were excluded, leading to a diagnosis of ANE. Despite aggressive treatment, including respiratory support, intravenous immunoglobulin, and high-dose glucocorticoids, the patient's condition deteriorated rapidly, resulting in death the following day. CONCLUSIONS ANE is a rare but devastating condition in adolescents, particularly following viral infections such as COVID-19. It should be considered in patients presenting with seizures and progressive consciousness disorders after viral infection. Urgent neuroimaging and lumbar puncture are essential for diagnosis. Early recognition, immunotherapy, and aggressive management are crucial to mitigate the high mortality associated with this severe neurological disorder.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946932"},"PeriodicalIF":1.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12054305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001589","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":"Insights into Congenital Body Stalk Anomaly Coupled with Placenta Accreta Conditions: A Case Report.","authors":"Fatima Zahra, Nathania Tjuwatja, Setyorini Irianti, Putri Nadhira Adinda Adriansyah","doi":"10.12659/AJCR.946041","DOIUrl":"https://doi.org/10.12659/AJCR.946041","url":null,"abstract":"<p><p>BACKGROUND Body stalk anomaly is a rare abdominal wall defect thought to be a consequence of abnormalities in the development of cephalic, caudal, and lateral embryonic folding and defect in closure of the body wall during embryogenesis. Placenta accreta spectrum (PAS) is a general term frequently used to encompass accreta, increta, and percreta conditions. This report describes a distinct pregnancy with a body stalk abnormality and PAS. CASE REPORT A 34-year-old woman, gravida 2 para 1, with no previous abortions, was referred to the Maternal-Fetal Medicine Unit for further investigation of omphalocele at 29 weeks of gestation. Although the defect was not suspected during the first trimester scan, subsequent obstetric ultrasounds revealed a severe abdominal wall defect, kyphoscoliosis, a very rudimentary umbilical cord, and limb defects. Ultrasound examination of the placenta showed increased vascularity at the placental bed and loss of the retroplacental-myometrial radiolucent interface, leading to diagnosis of suspected body stalk anomaly, with PAS. Cesarean delivery was performed at 30 weeks, with plan for conservative treatment for PAS, including uterine-sparing surgery. Baby was born weighing 800 g and measuring 25 cm in length, with an APGAR score of 1-1. Clinical examination confirmed a very short umbilical cord and severe abdominal wall and limb defects. However, due to significant hemorrhage during surgical procedure, cesarean hysterectomy was done. CONCLUSIONS The management of body stalk anomaly with PAS is challenging. Preconception counseling is important to detect abnormalities earlier, and a multidisciplinary care team is needed to create patients' treatment plans. This congenital defect is invariably fatal.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946041"},"PeriodicalIF":1.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988651","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":"AMH and Kisspeptin Receptor Expression in Rare Hydropic Leiomyoma: A Case Study.","authors":"Marek Gowkielewicz, Aleksandra Lipka, Aleksandra Piotrowska, Marta Szadurska-Noga, Anna Szalcunas-Olsztyn, Maciej Eliszewski, Paweł Radkowski, Piotr Dzięgiel, Tomasz Waśniewski, Marta Majewska","doi":"10.12659/AJCR.947953","DOIUrl":"https://doi.org/10.12659/AJCR.947953","url":null,"abstract":"<p><p>BACKGROUND Leiomyomas are common benign uterine tumors (BUMTs) with diverse histopathological subtypes and variable clinical presentations. While most are asymptomatic, some cause significant morbidity, including abnormal uterine bleeding, infertility, and pain. Hydropic leiomyomas (HLMs) are rare variants histopathologically characterized by zonal edema and may pose diagnostic challenges, particularly when located in atypical sites such as the retroperitoneal space. This report presents a case of a retroperitoneal HLM with strong expression of anti-Müllerian hormone (AMH) and its receptor (AMHR2), and kisspeptin (KISS1) and its receptor (KISS1R), suggesting potential new therapeutic targets. CASE REPORT A 44-year-old woman presented with acute lower abdominal pain. Magnetic resonance imaging (MRI) revealed a well-circumscribed, pedunculated retroperitoneal mass originating posteriorly from the uterine body-cervix junction. MRI findings suggested a benign mesenchymal tumor but could not exclude malignancy. Surgical excision was performed, and histopathological examination confirmed HLM. Immunohistochemical analysis demonstrated strong nuclear and cytoplasmic expression of AMH, AMHR2, KISS1, and KISS1R in tumor cells, making this the first reported case of such expression in HLM. The patient had an uneventful postoperative course, and no recurrence was observed during a 2-year follow-up. CONCLUSIONS This case underscores the diagnostic complexity of retroperitoneal HLMs and the importance of MRI in differentiating BUMTs from malignancies. Strong AMH, AMHR2, KISS1, and KISS1R expression suggests a potential role of these regulatory proteins in HLM pathophysiology. Further research on targeted modulation of these pathways may provide novel therapeutic approaches for BUMTs, particularly in cases where conventional treatments are limited.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947953"},"PeriodicalIF":1.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144014222","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":"Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult.","authors":"Irma Buchukuri, Giorgi Chalatashvili, Maia Gotua, Kakhaber Robakidze, Nino Khutsishvili, Nino Lortkipanidze","doi":"10.12659/AJCR.946411","DOIUrl":"https://doi.org/10.12659/AJCR.946411","url":null,"abstract":"<p><p>BACKGROUND Netherton syndrome is an autosomal recessive skin disorder usually diagnosed in infancy and is characterized by ichthyosis, erythroderma, atopy, and characteristic beading of the hair shaft (trichorrhexis invaginata). Secukinumab, a monoclonal antibody that inhibits interleukin-17, has recently been reported to be effective in patients with refractory Netherton syndrome. The present report describes a 20-year-old man with a chronic history of refractory Netherton syndrome who responded to treatment with secukinumab. CASE REPORT A 20-year-old male patient presented with generalized pruritus, erythema, and scaling. The patient was previously diagnosed with atopic dermatitis and had been treated with systemic corticosteroids and omalizumab, without improvement. Later, the patient was referred to us. Physical examination showed generalized erythroderma and polycyclic and serpiginous erythematous plaques with double-edged scales at the margins. Trichoscopy of the scalp revealed a hair shaft abnormality, specifically trichorrhexis invaginata. The blood tests demonstrated elevated IgE levels. Initially, the patient was started on topical corticosteroids, which caused the condition to deteriorate. As the patient did not respond to the treatment, a decision was made to start secukinumab monotherapy. After 2 injections, the patient's condition markedly improved and the effect after the last injection was maintained for 4-5 months. CONCLUSIONS Netherton syndrome is a rare and often misdiagnosed hereditary diseases in dermatology. For this reason, the management strategies of the disease are variable and without consensus. In our case, considering the pathogenesis of the disease, we used secukinumab, which has shown promising results and good tolerability. Further studies are required to establish the efficacy of the drug.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946411"},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048827","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":"Rethinking Limp Diagnosis: Brodie's Abscess Linked to Streptococcal Infections.","authors":"Cassandra Bradby, Juan March, Kathleen Bryant","doi":"10.12659/AJCR.946993","DOIUrl":"https://doi.org/10.12659/AJCR.946993","url":null,"abstract":"<p><p>BACKGROUND Brodie's abscess is a subacute osteomyelitis, most often seen in the long bones of children. In the emergency department (ED) these patients usually present with prolonged atraumatic limb pain and no signs of systemic infection. There is usually no known triggering factor for this infection. We describe a case of Group A Streptococcus (GAS) pharyngitis resulting in Brodie's abscess, which has not been reported previously. CASE REPORT A 6-year-old boy with 4 days of sore throat presented to his pediatrician and was treated with amoxicillin for a confirmed GAS pharyngitis. He presented to the ED on day 6 with fever, atraumatic left knee pain, swelling, and decreased range of motion (ROM) and was admitted after a workup suggested septic arthritis. MRI identified Brodie's abscess of his distal femur. Wound cultures grew Streptococcus pyogenes (GAS). Following a 4-day hospitalization with IV clindamycin, he was transitioned to cephalexin and discharged. On day 22, he returned with knee pain, swelling, warmth, and decreased ROM. Repeat MRI showed recurrent subperiosteal abscess and osteomyelitis of the femur with Brodie's abscess. After a course of IV clindamycin and 2 surgical debridements, he was discharged with complete resolution at 2-month follow-up. This Brodie's abscess case was attributed to a recent streptococcal pharyngitis, highlighting the importance of history taking, a high index of suspicion, and complications of streptococcal infections. CONCLUSIONS Physicians are taught that a child with a limp needs an X-ray to rule out a fracture, and if the X-rays are negative, an arthrocentesis to rule out a septic joint. Due to the increased incidence of more invasive streptococcal strains, MRI imaging may be needed to rule out Brodie's abscess in children, especially those with recent streptococcal infections.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946993"},"PeriodicalIF":1.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031682","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":"Post-COVID-19 Guillain-Barré Syndrome with GM1 and GD1b Antibodies: A Case Study and Literature Review.","authors":"Mrudula Thiriveedi, Francis G Sto Domingo, Sawyer Longley, Siddharth Patel, Sujatha Baddam, Anil Chimakurthy","doi":"10.12659/AJCR.947416","DOIUrl":"https://doi.org/10.12659/AJCR.947416","url":null,"abstract":"<p><p>BACKGROUND The coronavirus disease 2019 (COVID-19) pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has led to the emergence of various neurological complications, including Guillain-Barre syndrome (GBS). GBS is an acute, immune-mediated disorder characterized by progressive weakness, sensory deficits, and autonomic dysfunction. Anti-ganglioside antibodies are often seen in GBS; however, they are rarely reported in the setting of COVID-19-related GBS. We present a case of post-COVID-19 GBS with positive GM1 and GD1b antibodies. CASE REPORT An 86-year-old man presented with progressive quadriparesis, sensory deficits, and hyporeflexia 4 weeks after COVID-19 infection. Brain and spine imaging were unremarkable. Cerebrospinal fluid (CSF) analysis revealed albuminocytological dissociation, consistent with acute inflammatory demyelinating polyneuropathy (AIDP). Despite 2 courses of intravenous immunoglobulin (IVIG), the patient showed minimal improvement in muscle strength. Nerve conduction studies (NCS) revealed severe sensorimotor polyneuropathy, with axonal and demyelinating features. Serum testing showed elevated GM1 and GD1b anti-ganglioside antibody titers. CONCLUSIONS Although numerous cases of COVID-19-related GBS have been reported, anti-ganglioside antibody positivity, particularly GM1 and GD1b, is uncommon. The underlying mechanism is presumed to be autoimmune, likely triggered by molecular mimicry. Our case contributes to the evolving understanding of GBS immunology in the context of COVID-19. Although this case report may not alter current GBS management, the co-occurrence of GM1 and GD1b antibodies in post-COVID-19 GBS underscores the need for continued vigilance, immunological profiling, and research into potential prognostic and therapeutic implications.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947416"},"PeriodicalIF":1.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057233","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":"Late Detection of Corpus Callosum Infarction in a 55-Year-Old: Insights from Alien Hand Syndrome.","authors":"Léonard Kouamé Kouassi, Ahya Nancy Tanya Essoin-De Souza, Roxane Affoué Marie Beuseize, Stéphane Ange Abbé","doi":"10.12659/AJCR.947514","DOIUrl":"https://doi.org/10.12659/AJCR.947514","url":null,"abstract":"<p><p>BACKGROUND Alien hand syndrome by corpus callous infarction is known although rare. However, it can lead to a delay in diagnosis, as it is an unusual sign of stroke. We report a case of alien hand syndrome that belatedly revealed a corpus callous infarct in an Ivorian man in sub-Saharan Africa. CASE REPORT A 55-year-old patient who was right-handed consulted a neurologist for episodes of inter-manual conflict due to uncontrolled movements of his left hand. This symptomatology had been developing for 8 days and was preceded by a sudden numbness of the left upper limb that had occurred 6 days earlier. The patient was anxious and feared the persistence of these movements. Brain magnetic resonance imaging prescribed by the neurologist allowed the diagnosis of callous body infarctus. The etiological investigation did not find an obvious etiology. Treatment consisted of an anti-diabetic drug, antihypertensive drug, platelet anti-aggregator, statin, and anxiolytic. This symptom had significantly regressed after 21 days. CONCLUSIONS This was alien hand syndrome of diagonal dyspraxia type (inter-manual conflict) associated with cerebral infarction. By updating this syndrome, we hope to attract the attention of physicians to avoid any delay in diagnosis. We recommend brain imaging in case of an unusual clinical manifestation or the prompt referral of the patient to a neurologist.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947514"},"PeriodicalIF":1.0,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023434","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":"From Erysipelas to Epiglottitis: Managing Complications in Invasive Group A Streptococcal Infection.","authors":"Shuhei Matsumoto, Takuya Masuda, Nobuyoshi Minemura, Hiroyoshi Nakajima, Keita Tatsuno","doi":"10.12659/AJCR.947291","DOIUrl":"https://doi.org/10.12659/AJCR.947291","url":null,"abstract":"<p><p>BACKGROUND Group A Streptococcus (GAS, Streptococcus pyogenes) is a gram-positive human-exclusive pathogen responsible for various types of infections. The incidence of invasive GAS infections, which can be severe and are associated with Streptococcal toxic shock syndrome (STSS), is increasing worldwide. CASE REPORT A 75-year-old woman with a past medical history of cervical cancer surgically treated 10 years ago and dyslipidemia presented to the Emergency Department with fever, swollen eyelids, and difficulty moving her body. Initially, she was diagnosed with erysipelas based on her typical facial manifestation. Cefazolin was initiated, but it was changed to Ampicillin + Clindamycin due to concerns about invasive GAS and STSS. Despite these antibiotics, her edema deteriorated and her neck became swollen on Day 3. She reported difficulty breathing, and inspiratory stridor subsequently appeared. CT showed facial and pharyngeal edema. We urgently intubated her with a bronchoscope, which revealed a swollen and reddish epiglottis. Her airway symptoms and swollen neck disappeared on Day 11, and she was extubated. On Day 18, her antibiotic treatment was completed. CONCLUSIONS We describe a patient with invasive GAS infections whose initial manifestation was typical of erysipelas, but she eventually required intubation due to complicated epiglottitis. Even when GAS disease is treated with antibiotics, it may be difficult to prevent subsequent invasive GAS disease. Regardless of the initial diagnosis and treatment, careful monitoring is vital. When invasive GAS infection is suspected, there is a need to prepare for urgent intervention.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947291"},"PeriodicalIF":1.0,"publicationDate":"2025-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037127","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":"Diagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.","authors":"Peter B Conroy, Sue Davel, Jacques A J Malherbe, Simon J Carrivick, Edward N Briggs","doi":"10.12659/AJCR.946969","DOIUrl":"https://doi.org/10.12659/AJCR.946969","url":null,"abstract":"<p><p>BACKGROUND Acute porphyrias arise from genetic defects in heme synthesis. Significant increases in urine porphobilinogen (PBG) levels are diagnostic, enabling further testing and the commencement of targeted therapies. We report a rare case of an elderly woman with a delayed diagnosis of acute variegate porphyria (VP) neurovisceral crisis, anuria, and multiorgan failure precipitated by methicillin-sensitive Staphylococcus aureus (MSSA) sepsis. Diagnostic and therapeutic difficulties confirming an acute VP crisis in the anuric patient are explored. CASE REPORT A 77-year-old South African woman presented with undifferentiated MSSA sepsis. Despite escalation to intensive care and treatment of her infection, she developed encephalopathy, tetraparesis, autonomic dysfunction, and anuric renal failure, requiring renal replacement therapy. Given her anuric state, novel assays of the dialysate effluent were performed and revealed elevated PBG levels. Xanthochromic cerebrospinal fluid was also obtained. Taken together with confirmatory plasma porphyrin spectrography, an acute VP neurovisceral crisis with multiorgan failure was established. Intravenous heme-arginate combined with extracorporeal filtration via continuous renal replacement therapy and therapeutic plasma exchange were initiated. Inappropriate blood leak detector clamping occurred during extracorporeal filtration due to the presence of porphyrins in the effluent. Despite these aggressive measures, the patient died due to her illness. CONCLUSIONS Progressive neurological compromise, coupled with undifferentiated multiorgan failure, should prompt consideration of an underlying acute porphyric crisis. In anuric porphyria patients, PBG assays of extracorporeal circuit effluents may be of diagnostic value. Effluent PBGs can interfere with the extracorporeal circuit blood leak detector, thereby offering further clinical suspicion of an underlying acute porphyric crisis.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e946969"},"PeriodicalIF":1.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12046175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053185","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":"Agenesis of the Dorsal Pancreas and Its Possible Link to Pancreatic Neuroendocrine Tumors: Case Insights.","authors":"Alessia Fassari, Edoardo Rosso, Jyoti Lakshmi Anafack, Vito De Blasi","doi":"10.12659/AJCR.947512","DOIUrl":"https://doi.org/10.12659/AJCR.947512","url":null,"abstract":"<p><p>BACKGROUND Agenesis of the dorsal pancreas (ADP) is a rare congenital anomaly resulting from incomplete development of the dorsal pancreatic bud, affecting the body and tail of the pancreas. While often asymptomatic, it can present with clinical abnormalities such as abdominal pain, diabetes, or obstructive jaundice, and may be associated with chronic pancreatitis and tumors. We report the third documented case of a high-grade neuroendocrine tumor located at the head of the pancreas in a patient with complete ADP, along with a review of the literature. CASE REPORT An 86-year-old man presented with jaundice caused by a 3-cm pancreatic mass compressing the bile duct, confirmed through imaging to be associated with ADP. Surgical intervention was declined, and a combined laparoscopic and radiological approach was used to place a biliary stent, alleviating symptoms. Histopathological analysis confirmed a poorly differentiated neuroendocrine carcinoma (NEC). Despite initial symptomatic relief, the patient died due to complications 3 months later. CONCLUSIONS This report underscores the diagnostic challenges of ADP and its potential association with pancreatic neoplasms. Improved imaging techniques such as computed tomography (CT), magnetic resonance imaging (MRI), and endoscopic ultrasound (EUS) facilitate diagnosis and differentiation from similar conditions. The association between ADP and pancreatic tumors should warn us to be watchful with every patient diagnosed with ADP and focus on the early detection of possible malignancies. Further research is needed to clarify the genetic and developmental mechanisms linking ADP to tumorigenesis and to explore targeted therapeutic approaches.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"26 ","pages":"e947512"},"PeriodicalIF":1.0,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035965/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001586","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}