Journal of Medical Case Reports最新文献

{"title":"Functional movement disorder similar to Parkinson's disease: a case report.","authors":"Sarah Goudarzzadeh, Shayan Shekarabi, Mahnaz Abdi","doi":"10.1186/s13256-024-04767-x","DOIUrl":"10.1186/s13256-024-04767-x","url":null,"abstract":"<p><strong>Introduction: </strong>Functional neurological disorder challenges conventional medical understanding, presenting neurological symptoms without organic explanations. This report delves into the intricate interplay between psychological and physical manifestations, emphasizing the importance of timely diagnosis and intervention and its impact on a patient's mental health and quality of life.</p><p><strong>Case presentation: </strong>A 40-year-old single Iranian man was admitted for the third time owing to exacerbation of mood symptoms, including depression, irritability, aggression, suicidal ideation, and movement and sensory problems. The patient's symptoms began with psychological stressors and family conflict, leading to muscle weakness and tremors in the left hand. Over a year, muscle weakness escalated, leading to slow movement, motor impairment in the lower limbs, and reliance on a cane for walking. The patient still exhibited symptoms, such as a mask-like face, stooped walking posture, and a relative improvement of symptoms periodically. At first, the patient was suspected of Parkinson's disease and was placed on levodopa and amantadine. However, the medication was discontinued owing to an unsatisfactory response and the lack of strong evidence in favor of neurological problems on frequent examinations and reviews. Despite multiple hospitalizations, the patient's symptoms remained unresolved. Finally, after years of investigations, based on specialists' recommendations, he was admitted to the psychosomatic ward for diagnostic evaluationele, and he was diagnosed with functional neurological disorder (psychogenic parkinsonism). He underwent pharmacotherapy, electroconvulsive therapy, and psychotherapy. He was discharged with partial improvement of symptoms, but showed periods of relapse and remission during the following years.</p><p><strong>Conclusion: </strong>This case study illuminates functional neurological disorder complexities, emphasizing the need for a holistic diagnostic approach. Timely interventions, including psychological support, can alleviate symptoms, reduce healthcare costs, and improve the overall prognosis. The report contributes to evolving functional neurological disorder understanding in psychiatry and neurology. The report underscores early recognition, advocating for comprehensive interventions involving psychiatric support, cognitive-behavioral therapy, and patient psychoeducation.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11443806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348342","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":"Localized type tenosynovial giant cell tumor with metastases to lungs and pleura: a case report and literature review.","authors":"Afshan Ali Shaik, Manoj Kumar Panigrahi, Mahismita Patro, Vangapandu Sushmita, Pritinanda Mishra","doi":"10.1186/s13256-024-04768-w","DOIUrl":"10.1186/s13256-024-04768-w","url":null,"abstract":"<p><strong>Background: </strong>Tenosynovial giant cell tumor is a rare soft tissue tumor of the synovium of joint, bursae, or tendon sheath. It is divided into localized or diffuse types on the basis of the growth pattern. Localized tenosynovial giant cell tumors are usually benign and treated successfully by excision. Diffuse tenosynovial giant cell tumors, in contrast to localized type, can destroy bone and cartilage and are associated with frequent local recurrences and distant metastasis. Localized type tenosynovial giant cell tumors rarely metastasize to distant organs. Here, we report a case of localized tenosynovial giant cell tumor presenting with lung metastases and systematically review literature.</p><p><strong>Case presentation: </strong>A 55-year-old Asian male presented with a dry cough, right-sided chest pain and progressive dyspnea for 1 month. At 18 months before this presentation, he had undergone excision of a painless swelling on his right index finger. The swelling recurred within 3 months of excision, and a biopsy was then suggestive of a giant cell tumor. Given the suspicion of a giant cell tumor, a wide excision of the lesion was performed and the excisional biopsy was consistent with a diagnosis of tenosynovial giant cell tumor, localized type. At admission to our hospital, the patient had tachypnoea and absent breath sounds on the right side. A chest radiograph showed a right-sided pleural effusion with a homogenous opacity in the left mid-zone. A contrast-enhanced computed tomography of the chest and abdomen showed right massive pleural effusion and bilateral multiple lobulated heterogeneously enhancing pleural-based masses with areas of internal calcification. Pleural fluid analysis revealed an exudate with no malignant cells on cytology. A lung biopsy showed osteoclast-like giant cells and mononuclear spindle cells with areas of hemorrhage and necrosis, suggesting tenosynovial giant cell tumor metastasis. A final diagnosis of localized type tenosynovial giant cell tumor of the right index finger with metastases to the lungs and pleura was made. The patient passed away after receiving three cycles of denosumab injection owing to progressive disease.</p><p><strong>Conclusion: </strong>Lung metastasis is extremely rare in patients with localized tenosynovial giant cell tumor. The survival is usually poor in patients with lung metastasis. A close follow-up of patients with localized type tenosynovial giant cell tumor is necessary for early detection of pleuropulmonary complications.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11441142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348345","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":"Dilated cardiomyopathy revealing Refsum disease: a case report.","authors":"Salim Arous, Ilyas Atlas, Amina Arous, Hatim Zahidi, El Ghali Mohamed Benouna, Rachida Habbal","doi":"10.1186/s13256-024-04789-5","DOIUrl":"10.1186/s13256-024-04789-5","url":null,"abstract":"<p><strong>Background: </strong>Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy, amyotrophy, retinopathy, ichthyosis, and hearing loss. Later in life, individuals with Refsum disease may present cardiac manifestations, such as arrhythmias or conduction defects (first-degree atrioventricular block and bundle branch block) and hypertrophic or dilated cardiomyopathy, leading to heart failure and sudden death. To the best of our knowledge, this is the first case revealed by cardiac manifestations described in literature.</p><p><strong>Case presentation: </strong>We report the case of 38-year-old white Moroccan male who was admitted in our department for an acute decompensated heart failure episode. Transthoracic echocardiography found a dilated cardiomyopathy with a reduced ejection fraction at 15%. Further evaluation showed different features of Refsum disease. High plasma level of phytanic acid confirmed the diagnosis. Cardiac manifestations are frequent in the late course of the adult Refsum disease and include, cardiomyopathy, electrical abnormalities, and sudden cardiac death. Moreover, arrhythmias remain one of the main causes of death in these patients.</p><p><strong>Conclusion: </strong>Refsum's disease is an autosomal recessive disorder. It presents as retinitis pigmentosa with anosmia, deafness ataxia, and cardiac defects. Current interventions for individuals with Refsum disease consist of dietary phytanic acid restriction and lipid apheresis to control symptoms and enhance quality of life.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11441232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348340","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":"Asymptomatic thrombocytopenia after nintedanib initiation in a patient with progressive pulmonary fibrosis: a case report and review of literature.","authors":"Xinxin Zhang, Kan Zhang, Nannan Zhao, Na Xi, Tiemei Zhao","doi":"10.1186/s13256-024-04790-y","DOIUrl":"https://doi.org/10.1186/s13256-024-04790-y","url":null,"abstract":"<p><strong>Background: </strong>Nintedanib is a primary antifibrosing medication available for idiopathic pulmonary fibrosis, systemic sclerosis-interstitial lung disease, and progressive pulmonary fibrosis, with scattered report of drug-induced thrombocytopenia.</p><p><strong>Case report: </strong>A 60-year-old Asian male with no history of thrombocytopenia was administered with nintedanib to treat progressive pulmonary fibrosis. The platelet count dropped rapidly after introduction of nintedanib and resolved gradually by withdrawal of the medication along with thrombopoietin receptor agonist.</p><p><strong>Conclusion: </strong>Based on experience from the limited reports, nintedanib-induced thrombocytopenia is typically reversible and manageable. Close monitoring of platelet counts in patients receiving this medication should be warranted.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11439192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348337","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":"Interfering antibodies may contribute to elevated D-dimer: a case report.","authors":"Dorte B Zilstorff, Thomas Steffen Hermann, Christine Rasmussen, Dorte Husum, Jørn Dalsgaard Nielsen, Nicolai J Wewer Albrechtsen","doi":"10.1186/s13256-024-04803-w","DOIUrl":"10.1186/s13256-024-04803-w","url":null,"abstract":"<p><strong>Background: </strong>Plasma levels of D-dimer are elevated in patients with thromboembolisms. Here we investigated the existence of interfering antibodies as a potential cause for elevated D-dimer levels.</p><p><strong>Case presentation: </strong>A 42-year-old white Caucasian woman with a prior history of pulmonary embolism during her first pregnancy (treated with heparin therapy for 6 weeks postnatally) and hypothyroidism had a persistent elevated D-dimer without any clinical or ultrasound-based signs of thromboembolic conditions during her second pregnancy. We obtained informed consent and plasma was obtained from the patient. D-dimer levels were measured using two different assays. We also tested for the presence of rheumatoid factor, performed dilution series, and finally used an antibody depletion strategy. The two D-dimer assays performed similarly. Using our antibody depletion technique, we observed that ~ 1/3 of the increased plasma levels of D-dimer may be attributed to interfering antibodies.</p><p><strong>Conclusions: </strong>Our results identify interfering antibodies as a potential contributor to an increased D-dimer in this patient. Our case highlights the potential of heterophilic interference for increased D-dimer and provides a procedure to determine this analytically.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11439241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348344","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":"Management of anti-melanoma differentiation-associated gene 5 antibody-induced refractory dermatomyositis complicated by interstitial pneumonia using tofacitinib and its outcomes: a case report.","authors":"Yui Imai, Takafumi Yorozuya, Taku Hatakeyama, Takumi Nishimaki, Tomoyuki Takahashi, Tatsuru Ishikawa, Shun Kondoh, Yuichiro Asai, Yuki Mori, Atsushi Saito, Hirotaka Nishikiori, Michiko Hosaka, Hirofumi Chiba","doi":"10.1186/s13256-024-04793-9","DOIUrl":"https://doi.org/10.1186/s13256-024-04793-9","url":null,"abstract":"<p><strong>Background: </strong>Clinical amyopathic dermatomyositis is characterized by cutaneous symptoms but lacks muscle symptoms. Anti-melanoma differentiation-associated gene 5 antibodies are frequently found in Japanese patients with clinical amyopathic dermatomyositis. Patients with rapidly progressive interstitial lung disease with positive anti-melanoma differentiation-associated gene 5 antibodies have poor prognoses, and majority of them are treated with combination immunosuppressive therapy; however, the best treatment is yet to be determined.</p><p><strong>Case presentation: </strong>A 52-year-old Asian male patient presented with a chief complaint of dyspnea on exertion. He had a typical skin rash and rapidly progressive interstitial pneumonia. Additionally, anti-melanoma differentiation-associated gene 5 antibodies were detected; therefore, he was diagnosed with dermatomyositis-associated interstitial pneumonia. Respiratory failure worsened despite administering steroid pulse therapy, tacrolimus, and cyclophosphamide. Consequently, plasma exchange was performed on day 13 of admission. After a slight improvement, the patient's respiratory failure worsened. Thus, cyclophosphamide was replaced by tofacitinib on day 28. Although respiratory failure improved and the progression of interstitial pneumonia seemed under control, βD-glucan level increased and Aspergillus antigen was detected on day 49. Micafungin and voriconazole were administered, but the patient succumbed to worsening respiratory failure on day 61. The pathological autopsy revealed multiple nodular lesions with cavity formation in both lungs and the presence of Aspergillus with severe neutrophilic infiltration and necrosis, which supported the diagnosis of invasive pulmonary aspergillosis.</p><p><strong>Conclusion: </strong>The patient with anti-melanoma differentiation-associated gene 5 antibody-related rapidly progressive interstitial lung disease, whose disease was difficult to control after the administration of triple immunosuppressive therapy (steroids, tacrolimus, and cyclophosphamide), showed good response with tofacitinib. Unfortunately, the patient died of invasive pulmonary aspergillosis owing to severe immunosuppression; thus, the signs of complications should be promptly detected.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348346","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":"Methotrexate-induced leukoencephalopathy presenting as acute-onset limb weakness in a child: a case report.","authors":"Hashan Pathiraja, Gayathri de Abrew, Linushika de Silva, Sanjaya Fernando, Shobhavi Randeny, Sachith Mettananda","doi":"10.1186/s13256-024-04824-5","DOIUrl":"https://doi.org/10.1186/s13256-024-04824-5","url":null,"abstract":"<p><strong>Background: </strong>Methotrexate is an essential medicine used to treat childhood malignancies including acute lymphoblastic leukemia. Neurotoxicity manifesting as leukoencephalopathy is an important adverse effect of methotrexate. Methotrexate-induced leukoencephalopathy classically demonstrates sub-acute-onset neurological manifestations that include learning disability, progressive dementia, drowsiness, seizures, ataxia, and hemiparesis. These are rare in children and are generally reported following intrathecal or intravenous use of methotrexate. In contrast, acute onset neurotoxicity with oral use of methotrexate is very rare. We report a 10-year-old boy presenting with acute onset limb weakness and neurological signs due to methotrexate-induced leukoencephalopathy following oral methotrexate.</p><p><strong>Case presentation: </strong>A 10-year-old Sri Lankan boy presented with fever and headache for 5 days and difficulty in walking for 2 days. He was unable to stand unaided on admission, and his parents complained of repetitive, involuntary extension movements involving the right upper limb. He is a child diagnosed with acute lymphoblastic leukemia who was on treatment for a relapse with daily oral dexamethasone and mercaptopurine, weekly oral methotrexate and folinic acid, and once every two weeks intrathecal vincristine. On examination, he had dystonic movements of the right upper limb and hypotonia and reduced muscle power (grade 3/5) of the left upper and lower limbs proximally and distally. The muscle power of the right side was grade 4 (out of 5). Tendon reflexes were diminished in all four limbs, and the plantar response was flexor bilaterally. The child had dysmetria and intension tremors on both sides. T2-weighted magnetic resonance imaging of the brain revealed symmetrical high signal intensities with diffusion restriction involving bilateral putamen, subcortical areas, and deep white matter, suggesting treatment-related neurotoxicity due to methotrexate-induced leukoencephalopathy. Oral methotrexate was discontinued. He showed gradual improvement in limb weakness and other neurological signs following treatment with intravenous folinic acid, aminophylline, dexamethasone, and oral dextromethorphan.</p><p><strong>Conclusion: </strong>This case report describes a patient with rapidly progressing methotrexate-induced leukoencephalopathy following oral methotrexate. It highlights that the risk of neurotoxicity persists even with the oral use of methotrexate; therefore, the prescribers should be vigilant of this uncommon side effect.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348347","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":"BRAF mutant PD-L1 positive metastatic musculoskeletal lesions from primary lung adenocarcinoma treated with combination vemurafenib and pembrolizumab: a case report.","authors":"Corazon A Ngelangel, Florge Francis Sy","doi":"10.1186/s13256-024-04773-z","DOIUrl":"https://doi.org/10.1186/s13256-024-04773-z","url":null,"abstract":"<p><strong>Background: </strong>B-Raf mutation positivity, B-Raf mutation positivity occurrence with programmed death ligand 1 overexpression, and musculoskeletal metastasis are singly rare in non-small cell lung cancer, and even rarer is all occurring in one patient.</p><p><strong>Case presentation: </strong>A Filipino 63-year-old male had B-Raf mutation positive and programmed death ligand 1 overexpressed symptomatic metastatic musculoskeletal lesions from lung adenocarcinoma treated with a BRAF inhibitor, vemurafenib, in combination with an immune checkpoint inhibitor, pembrolizumab. He exhibited significant reduction in pain and burden of musculoskeletal metastatic lesions.</p><p><strong>Conclusion: </strong>Although a rare occurrence and known to have a poor prognosis, B-Raf mutation positive programmed death ligand 1 overexpressed lung adenocarcinoma presenting with metastatic musculoskeletal lesions can respond favorably to a combination immune checkpoint inhibitor and BRAF inhibitor medication.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11437808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348339","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":"Morphine-induced fever: a case report and review of the literature.","authors":"Lirong Zhu, Zimin Zhang, Hua Ju, Chenkun Wang, Weiwei Jiang","doi":"10.1186/s13256-024-04770-2","DOIUrl":"https://doi.org/10.1186/s13256-024-04770-2","url":null,"abstract":"<p><strong>Background: </strong>Morphine is widely used to treat moderate-to-severe cancer pain. However, it causes various adverse effects, with morphine-induced fever being an extremely rare and poorly understood symptom.</p><p><strong>Case presentation: </strong>We report the case of a 58-year-old Chinese woman with advanced lung cancer. Due to the ineffectiveness of tramadol for pain relief, her treatment regimen was switched to morphine. Following the change, she developed nausea, vomiting, dizziness, and elevated body temperature. A similar episode occurred subsequently. After a drug review, the pharmacist speculated that morphine was the most likely causative agent. Upon discontinuation of morphine, her body temperature returned to baseline levels.</p><p><strong>Conclusions: </strong>This case highlights the need for healthcare providers to consider morphine as a potential cause of unexplained fever in patients. The fever may be caused by a hypersensitive response, as there was a significant increase in eosinophils during the fever episodes.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348348","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":"Successful application of percutaneous endoscopic cholangioscopy + electrohydraulic lithotripsy for hepatolithiasis post-liver transplantation: a case report.","authors":"Ana Clarete, Daniela Nasner, Juan Sebastián Toro-Gutiérrez, Alfonso Holguín-Holguín","doi":"10.1186/s13256-024-04669-y","DOIUrl":"https://doi.org/10.1186/s13256-024-04669-y","url":null,"abstract":"<p><strong>Background: </strong>Liver transplantation in pediatric patients is a crucial intervention for treating end-stage hepatic diseases. Despite significant advances in surgical techniques and postoperative care, complications remain a substantial challenge in this population. Biliary stones, an infrequent complication, present challenges in this context. Given the impossibility of endoscopic treatments, different strategies have been explored to address post-liver transplantation gallstones in children by implementing percutaneous treatment with intraductal lithotripsy.</p><p><strong>Case presentation: </strong>A 7-year-old Latin patient, who had a diagnosis of biliary atresia at the age of 2, underwent a liver transplant from a living donor. However, 4 months after the transplant, the patient experienced recurring episodes of cholangitis. Cholangioresonance revealed intrahepatic lithiasis and anastomotic stenosis. Attempted gallstone removal through percutaneous cholangiography proved unsuccessful, as multiple peripheral stones in all ducts remained immobile. Subsequently, a percutaneous endoscopic cholangioscopy using the SpyGlass Discover system for visual examination of the bile ducts + electrohydraulic lithotripsy was performed, effectively removing the stones without any complications.</p><p><strong>Conclusions: </strong>Percutaneous cholangioscopy with intraductal lithotripsy enables accurate identification and extraction of intrahepatic stones without the need for surgical intervention. This method proves to be a valuable alternative in addressing post-transplant biliary stone. In our case, it was performed on a pediatric patient who underwent liver transplantation, which makes it interesting and relevant as there is currently insufficient literature on this approach in such cases in this population.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11429367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142348349","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}