BMJ Case ReportsPub Date : 2025-03-03DOI: 10.1136/bcr-2024-264339
Aravind Balachandran, Sourabh Sinha, Hem Raj Gujar
{"title":"Hoffa-mimicking fracture of the tibial plateau.","authors":"Aravind Balachandran, Sourabh Sinha, Hem Raj Gujar","doi":"10.1136/bcr-2024-264339","DOIUrl":"https://doi.org/10.1136/bcr-2024-264339","url":null,"abstract":"<p><p>We report the case of a teenage male who had a slip and fall from a motorcycle and sustained injury to his left knee. A clinicoradiological evaluation revealed a closed displaced osteochondral fragment of the posterolateral tibial plateau. The patient underwent open reduction and internal fixation with two cannulated headless screws. The patient recovered uneventfully on follow-up. The Hoffa-like displaced posterolateral tibial plateau fracture with no associated ligament damage is a rare injury. Further, there are very few reported cases on the surgical approach and fixation techniques in this pattern of injury.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540091","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 : 2025-03-03DOI: 10.1136/bcr-2025-265047
Yumika Azuma, Takuya Otsuki, Kosuke Ishizuka, Kenya Ie
{"title":"Summer-type hypersensitivity pneumonitis in an early adolescent Japanese male.","authors":"Yumika Azuma, Takuya Otsuki, Kosuke Ishizuka, Kenya Ie","doi":"10.1136/bcr-2025-265047","DOIUrl":"https://doi.org/10.1136/bcr-2025-265047","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540100","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 : 2025-03-03DOI: 10.1136/bcr-2025-264935
Jihoon Park, Juri Kanda, Kan Takahashi, Hiroyuki Tanaka
{"title":"Prepubertal Graves' disease with hyperactivity and overgrowth since early childhood.","authors":"Jihoon Park, Juri Kanda, Kan Takahashi, Hiroyuki Tanaka","doi":"10.1136/bcr-2025-264935","DOIUrl":"https://doi.org/10.1136/bcr-2025-264935","url":null,"abstract":"<p><p>Although Graves' disease is a prevalent endocrine disorder, it is rare in prepubertal patients. Here, we describe the case of a middle childhood boy diagnosed with Graves' disease. The patient experienced exophthalmos, hyperactivity and overgrowth. Endocrinological tests revealed positivity for hyperthyroidism and thyrotropin receptor antibodies. Ultrasonography revealed an enlarged thyroid gland with increased blood flow. The onset of symptoms was estimated to have occurred around the age of 4 years based on the growth chart and past facial photographs. We speculate that it took more than 2 years from onset to diagnosis in this patient. The symptoms of Graves' disease in childhood, such as hyperactivity or overgrowth, may be overlooked as problems with developmental characteristics or growth effects. Although Graves' disease is rare in this age group, it should be considered in the differential diagnosis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540097","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 : 2025-03-03DOI: 10.1136/bcr-2024-262591
Laxmi Iyengar, John Su
{"title":"Osteoma cutis.","authors":"Laxmi Iyengar, John Su","doi":"10.1136/bcr-2024-262591","DOIUrl":"https://doi.org/10.1136/bcr-2024-262591","url":null,"abstract":"<p><p>In this report, we discuss two children with progressive cutaneous ossification and review its aetiology and associations. Osteoma cutis (OC) is a cutaneous disease associated with ossification in the dermis or subcutaneous tissue, classified as either primary or secondary. Primary OC is rare. Although it can occur <i>de novo</i>, it has significant genetic and metabolic associations that must be excluded and warrants a thorough clinical workup. Secondary OC arises in response to inflammation, neoplasia or trauma and may have aesthetic concerns.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540095","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":"Urachal adenocarcinoma presenting as pseudomyxoma peritonei: an unusual bladder tumour.","authors":"Prashant Singh, Rudra Prasad Ghorai, Amlesh Seth, Sumit Saini","doi":"10.1136/bcr-2023-258115","DOIUrl":"https://doi.org/10.1136/bcr-2023-258115","url":null,"abstract":"<p><p>A man in his 50s presented to the emergency department with a complaint of progressively increasing swelling in the lower abdomen. Investigations revealed a large pelvic mass for which a fine needle aspiration cytology was done, which was suggestive of adenocarcinoma. He was then referred to a urologist in view of suspected urachal adenocarcinoma. Following preoperative evaluation, he was taken up for tumour excision with partial cystectomy and extended pelvic lymph node dissection. Intraoperatively, there was a growth involving the dome of the bladder with mucinous ascites and multiple omental and peritoneal nodules. A gastrointestinal surgery consultation was sought, and eventually, he underwent tumour excision, omphalectomy, partial cystectomy, omentectomy, appendectomy, peritonectomy and hyperthermic intraperitoneal chemotherapy with mitomycin C. He recovered well in the postoperative period. The follow-up of 18 months showed no evidence of disease.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540112","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":"First worldwide surgical procedure of giant inguinoscrotal repair with the new Hugo robotic assisted system: video and docking presentation.","authors":"Riccardo Caruso, Emilio Vicente, Yolanda Quijano, Valentina Ferri","doi":"10.1136/bcr-2024-260658","DOIUrl":"https://doi.org/10.1136/bcr-2024-260658","url":null,"abstract":"<p><p>Giant inguinoscrotal (GIS) hernias are rarely present in clinical settings and its treatment with a minimally invasive approach is often considered a challenge. In recent years, robotic surgical techniques have gained prominence in the medical field, offering advantages over traditional laparoscopic methods. The Hugo robotic system introduces a fresh paradigm by employing independent robotic arms, enhancing manoeuverability in diverse surgical contexts. The aim of this video is to evaluate the efficacy of robotic TAPP (robotic transabdominal preperitoneal) in order to treat a GIS hernia.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540088","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 : 2025-03-03DOI: 10.1136/bcr-2024-262226
Riya Sharma, Tanish Modi, Ritu Shree, Chirag K Ahuja
{"title":"Inferior olivary hypertrophy and palatal tremor in cerebrotendinous xanthomatosis.","authors":"Riya Sharma, Tanish Modi, Ritu Shree, Chirag K Ahuja","doi":"10.1136/bcr-2024-262226","DOIUrl":"https://doi.org/10.1136/bcr-2024-262226","url":null,"abstract":"<p><p>Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder, and palatal tremor, as well as inferior olivary hypertrophy in its clinical spectrum, is exceptional. A man in his 30s who presented with bilateral lower limb weakness and spasticity, progressively enlarging swelling in bilateral Achilles region and a history of intellectual disability and childhood bilateral cataracts was found to have a palatal tremor on examination and inferior olivary hypertrophy on neuroimaging. This case demonstrates some of the classical clinical and neuroimaging findings, as well as some uncommon features associated with CTX.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540092","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 : 2025-03-03DOI: 10.1136/bcr-2024-262436
Zac Dragan, Ryan J Campbell, Terence R Moopanar
{"title":"Medial lag screw migration in an intramedullary nail combination.","authors":"Zac Dragan, Ryan J Campbell, Terence R Moopanar","doi":"10.1136/bcr-2024-262436","DOIUrl":"10.1136/bcr-2024-262436","url":null,"abstract":"<p><p>Intramedullary fixation is increasingly used for intertrochanteric fractures in the elderly population. The management of hardware migration and non-union remains a challenge for orthopaedic surgeons, often necessitating complex revision procedures. We report a case of medial lag screw migration with propagation of a reverse oblique neck of femur fracture 8 weeks postoperatively in a patient in their mid-70s with pre-existing paraplegia. A revision procedure was performed. Existing hardware was removed without complication. The lag screw tract was packed with layers of a haemostatic agent to prevent intra-articular cement migration followed by fixation with a long intramedullary nail with cement augmentation via the new lag screw. There were no intraoperative complications, and postoperative progress was satisfactory. This report presents a rare case of medial lag screw migration in an intramedullary nail combination and provides a novel surgical strategy for revision.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11880431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540093","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}
BMJ Case ReportsPub Date : 2025-03-03DOI: 10.1136/bcr-2024-264671
Emilio García Gómez, Daniel San-Juan, Juan Romero Valencia, Cristobal Jeronimo Ortega-Arenas
{"title":"Focal refractory epilepsy associated to 15q13.3 microduplication.","authors":"Emilio García Gómez, Daniel San-Juan, Juan Romero Valencia, Cristobal Jeronimo Ortega-Arenas","doi":"10.1136/bcr-2024-264671","DOIUrl":"https://doi.org/10.1136/bcr-2024-264671","url":null,"abstract":"<p><p>A young man in his early 20s, with a maternal history of epilepsy and psychiatric disorders, presents with drug-resistant epilepsy (DRE). His seizures began at age 5 following mild head trauma and have since progressed to frequent generalised and focal seizures. Despite treatment with carbamazepine, levetiracetam and gabapentin, seizure control remains elusive.Genetic testing reveals a 440.5 Kb microduplication at 15q13.3 involving the CHRNA7 gene. Brain MRI shows non-specific gliosis in the left frontal subcortical region. This finding aligns with previous associations of 15q13.3 copy number variations with epilepsy, intellectual disability and attention-deficit/hyperactivity disorder, though their role in DRE remains unclear.This case highlights the complexity of 15q13.3 microduplications, their phenotypic variability and incomplete penetrance, making management challenging. Treatment strategies remain largely undefined, emphasising the need for comprehensive genetic evaluation and personalised approaches. Further research is essential to refine therapeutic options for patients with this genetic alteration.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 3","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540090","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}