BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-261016
Muhammad Akbar Baig, Joshua Nogar
{"title":"Endoscopic management of carefully selected asymptomatic body stuffers.","authors":"Muhammad Akbar Baig, Joshua Nogar","doi":"10.1136/bcr-2024-261016","DOIUrl":"https://doi.org/10.1136/bcr-2024-261016","url":null,"abstract":"<p><p>The guidelines from the European and American Societies for Gastrointestinal Endoscopy discourage endoscopic retrieval of drug bags in body stuffers. However, recent evidence challenges this stance, demonstrating successful bag retrieval without fatal outcomes. We present two distinct cases illustrating varying outcomes of intervention. The first involves a 30-year-old asymptomatic man who ingested a plastic bag containing 3,4-methylenedioxymethamphetamine (MDMA). Despite initial identification and successful retrieval via upper gastrointestinal (UGI) endoscopy, the second case, a 50-year-old asymptomatic man who ingested a balloon filled with MDMA, alprazolam and lorazepam, required laparoscopic removal due to technical challenges during endoscopy. These cases prompt reconsideration of current guidelines, particularly in light of emerging literature advocating for early UGI endoscopy as a viable intervention. However, proficiency in UGI endoscopy, often necessitating additional experience beyond standard training, remains imperative for successful outcomes in such cases.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-262815
Nicholas Pelz, Anthony Perugini, John Tucker Peabody, Stephen Berling
{"title":"Surgical excision of symptomatic lateral band snapping syndrome in small finger proximal interphalangeal joint.","authors":"Nicholas Pelz, Anthony Perugini, John Tucker Peabody, Stephen Berling","doi":"10.1136/bcr-2024-262815","DOIUrl":"https://doi.org/10.1136/bcr-2024-262815","url":null,"abstract":"<p><p>Lateral band snapping syndrome can be a debilitating condition involving the proximal interphalangeal (PIP) joint of the fingers. Although rare, it is thought to occur due to disruption of the finger extensor mechanism allowing inappropriate subluxation of the lateral bands over the PIP joint, leading to mechanical and painful symptoms.Here, we describe a woman in her early 40s with a painful, snapping PIP joint secondary to a work-related injury. On examination, there was radial lateral band subluxation with joint motion.The dorsal aspect of the small finger was explored, and the radial lateral band was found to be subluxated during the active range of motion. The injured retinacular ligament along with the pathological lateral band was excised. Postoperatively, the patient was allowed to have unrestricted range of motion. At the latest follow-up, there was no active or passive triggering/snapping symptoms, as well as full range of motion of the affected digit.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-259841
Ryan D Rosen, Matthew O'Brien, Ramya Ersala, John M Barnwell
{"title":"Surgical resection of a solitary fibrous tumour causing refractory hypoglycaemia: Doege-Potter syndrome.","authors":"Ryan D Rosen, Matthew O'Brien, Ramya Ersala, John M Barnwell","doi":"10.1136/bcr-2024-259841","DOIUrl":"https://doi.org/10.1136/bcr-2024-259841","url":null,"abstract":"<p><p>Solitary fibrous tumours (SFTs) are rare soft tissue masses that are often clinically silent until they cause mass effect. A paraneoplastic syndrome manifesting as persistent hypoglycaemia, termed Doege-Potter syndrome (DPS), can be associated with these lesions. Surgical treatment is recommended for the management of these tumours.A case of a man in his 60s who was admitted for altered mental status and hypoglycaemia is herein described. Physical examination revealed a distended, asymmetric abdomen with a firm palpable mass in the left upper quadrant. Imaging demonstrated a 24 cm abdominal mass, confirmed to be an SFT on pathology. Biochemical evaluation was consistent with DPS. Surgical excision was performed; however, its large size and retroperitoneal location complicated intraoperative visualisation, ultimately requiring aortic reconstruction, multiple extremity fasciotomy, nephrectomy and prolonged intensive care unit stay.Few publications describe DPS. While tumour excision can be curative, this case report describes challenges that may arise with surgical management.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-261859
Roohi Shrivastava, Louise Sherwin, James Davison, Simone Walter
{"title":"Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.","authors":"Roohi Shrivastava, Louise Sherwin, James Davison, Simone Walter","doi":"10.1136/bcr-2024-261859","DOIUrl":"https://doi.org/10.1136/bcr-2024-261859","url":null,"abstract":"<p><p>A toddler presented to audiovestibular medicine with mild bilateral, sensorineural hearing loss identified via the Newborn Hearing Screening Programme. This report focuses on the early clinical assessment and aetiological investigation which prompted testing for metabolic disease and highlights the parents' perspective. Early investigation led to a relatively early diagnosis of mucopolysaccharidosis (MPS) type IIIA: Sanfilippo disease which enabled the family to access a novel treatment option which otherwise would not have been possible.Infants with early signs and symptoms of MPS may present to a range of healthcare professionals. The detection of hearing loss via the newborn hearing screen presents an opportunity for healthcare professionals to initiate early investigation for a possible underlying metabolic disease before end-organ damage progresses. This is vital in allowing affected families to engage with clinical trials and genetic counselling.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-262722
Kartik Saini, Naveen Kumar Kansal, Ravi Hari Phulware, Riti Bhatia
{"title":"Severe childhood SLE with refractory autoimmune hemolytic anemia-a therapeutic challenge.","authors":"Kartik Saini, Naveen Kumar Kansal, Ravi Hari Phulware, Riti Bhatia","doi":"10.1136/bcr-2024-262722","DOIUrl":"https://doi.org/10.1136/bcr-2024-262722","url":null,"abstract":"<p><p>Paediatric Systemic lupus erythematosus (SLE) constitutes 10 to 20% of cases of SLE with more severe disease and higher mortality. We report a case of an adolescent girl with SLE with multisystem involvement who was started on hydroxychloroquine and oral prednisolone. However, due to persistent worsening of skin lesions and falling cell counts, pulsed dexamethasone was initiated which showed improvement in the skin lesions, cell counts, proteinuria and pleural effusion but there was a persistent fall in the haemoglobin. The patient was diagnosed with refractory autoimmune hemolytic anemia (AIHA) and treated with Rituximab which showed marked improvement in AIHA. Therefore, Rituximab can be considered in managing childhood SLE with refractory AIHA.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-263270
Naria S Quazi, John Ross Crawford
{"title":"Spontaneous resolution of an asymptomatic cerebral arachnoid cyst in a child.","authors":"Naria S Quazi, John Ross Crawford","doi":"10.1136/bcr-2024-263270","DOIUrl":"https://doi.org/10.1136/bcr-2024-263270","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-260080
Aicee Dawn Calma, Irene Tan, Ibrahim Tohidi-Esfahani, Lauren Sanders, Kishore Kumar, Katrina Morris
{"title":"Cerebral venous sinus thrombosis after intrathecal administration of nusinersen.","authors":"Aicee Dawn Calma, Irene Tan, Ibrahim Tohidi-Esfahani, Lauren Sanders, Kishore Kumar, Katrina Morris","doi":"10.1136/bcr-2024-260080","DOIUrl":"https://doi.org/10.1136/bcr-2024-260080","url":null,"abstract":"<p><p>Cerebral venous sinus thrombosis is an uncommon sequela of low intracranial pressure, which may result from a lumbar puncture (LP). We describe a case of a patient in their 40s presenting with 48 hours of persistent headache following intrathecal administration of nusinersen for spinal muscular atrophy (SMA) type 3. There were no focal neurological signs or symptoms apart from baseline symmetrical proximal limb weakness attributed to SMA. Initial investigations revealed radiological evidence of an acute cerebral venous sinus thrombus (CVST). The patient was promptly started on anticoagulation. Partial recanalisation was seen as soon as 48 hours after commencement of anticoagulation, with almost full resolution of the thrombus at follow-up in 2 months. Awareness of CVST as a potential complication of intrathecal therapies and diagnostic LP allows for early identification, management and prevention of serious neurological consequences.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytoreductive surgery and HIPEC with oxaliplatin for the treatment of peritoneal carcinomatosis from recurrent fibrolamellar carcinoma.","authors":"Luca Ballelli, Emilio Vicente, Yolanda Quijano, Valentina Ferri","doi":"10.1136/bcr-2024-261992","DOIUrl":"https://doi.org/10.1136/bcr-2024-261992","url":null,"abstract":"<p><p>Fibrolamellar hepatocellular carcinoma (FHCC) is a rare variant of hepatocellular carcinoma (HCC), characterised by a poorer prognosis in later stages compared with conventional HCC due to a high rate of local recurrence, lymph node metastasis and peritoneal metastasis. Conventional chemotherapy is generally ineffective, making surgery the only potentially curative treatment. Currently, surgery is also indicated in cases of recurrence, always aiming for an R0 resection.We present the case of a young patient with peritoneal and retroperitoneal carcinomatosis following multiple resections, exhibiting a peculiar 'sarcomatoid' pattern of recurrence that is primarily local and not widespread within the abdomen. Immunotherapy was ineffective, and after the third recurrence, a cytoreductive surgery combined with hyperthermic intraperitoneal chemotherapy was performed.To date, there are no studies on the effectiveness of intraperitoneal chemotherapy in FHCC, though promising results have been observed for conventional HCC. As reported in two other articles in the literature, we attempted to apply this approach to FHCC.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Case ReportsPub Date : 2025-01-04DOI: 10.1136/bcr-2024-262085
Panagiotis Tsoutsanis, Dimitrios Kapantais
{"title":"Orbital apex syndrome secondary to Sweet syndrome.","authors":"Panagiotis Tsoutsanis, Dimitrios Kapantais","doi":"10.1136/bcr-2024-262085","DOIUrl":"https://doi.org/10.1136/bcr-2024-262085","url":null,"abstract":"<p><p>Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is a dermatologic, auto-inflammatory disorder of unclear origin, often accompanied by systemic inflammation affecting various tissues, including the eyes. Common ocular manifestations include conjunctivitis but can extend to other ocular tissues. Orbital apex syndrome (OAS) involves damage to several cranial nerves transversing the orbital apex, leading to ophthalmoplegia and vision loss. This case report describes a rare case of OAS secondary to SS. A woman in her 50s with a history of SS presented with right eye loss of vision and ophthalmoplegia. Following treatment with high-dose systemic corticosteroids, her vision and ocular motility were restored. This case highlights the importance of recognising SS as a potential cause of OAS, especially when OAS is accompanied by the characteristic skin lesions noted in SS and that high-dose corticosteroids can treat this condition rapidly and effectively.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}