Ines Garcia Nunes, Patricia Pereira Amaral, Andre Reis Correia, Marta Luísa Rodrigues
Ovarian vein thrombophlebitis (OVT) is a rare but serious complication, most often described postpartum but also possible after abortion or pelvic surgery. It represents part of a spectrum that includes ovarian vein thrombosis, OVT and septic pelvic thrombophlebitis (SPT). Clinical features are non-specific, with pelvic pain and persistent fever often mimicking endometritis, urinary tract infection or other abdominal conditions, which contributes to delayed diagnosis. Imaging, particularly contrast-enhanced CT, is crucial for confirmation.We report the case of a woman in her 20s who developed OVT after an abortion at 16 weeks' gestation, an exceedingly uncommon setting for this condition. Diagnosis was established by clinical features, inflammatory markers and CT showing right ovarian vein thrombosis. She was successfully treated with broad-spectrum antibiotics and anticoagulation, transitioning from low-molecular-weight heparin to rivaroxaban, with complete recovery.
{"title":"Ovarian vein thrombophlebitis as a complication of second trimester abortion.","authors":"Ines Garcia Nunes, Patricia Pereira Amaral, Andre Reis Correia, Marta Luísa Rodrigues","doi":"10.1136/bcr-2025-269604","DOIUrl":"https://doi.org/10.1136/bcr-2025-269604","url":null,"abstract":"<p><p>Ovarian vein thrombophlebitis (OVT) is a rare but serious complication, most often described postpartum but also possible after abortion or pelvic surgery. It represents part of a spectrum that includes ovarian vein thrombosis, OVT and septic pelvic thrombophlebitis (SPT). Clinical features are non-specific, with pelvic pain and persistent fever often mimicking endometritis, urinary tract infection or other abdominal conditions, which contributes to delayed diagnosis. Imaging, particularly contrast-enhanced CT, is crucial for confirmation.We report the case of a woman in her 20s who developed OVT after an abortion at 16 weeks' gestation, an exceedingly uncommon setting for this condition. Diagnosis was established by clinical features, inflammatory markers and CT showing right ovarian vein thrombosis. She was successfully treated with broad-spectrum antibiotics and anticoagulation, transitioning from low-molecular-weight heparin to rivaroxaban, with complete recovery.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092154","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}
Ashli Gibb, Lauren Wehner, Chelsea Leipold, Michelle Chung
Spontaneous coronary artery dissection (SCAD) is a rare acute coronary artery event; however, it should always be considered in pregnant and postpartum patients as it can be life-threatening if untreated. Diagnosis of pregnancy-associated spontaneous coronary artery dissection (PSCAD) can be challenging when pathophysiological lines are blurred by changes related to pregnancy or concurrent obstetric processes such as pre-eclampsia or haemolysis elevated liver enzymes and low platelets. It has been reported that PSCAD has an increased incidence in women with pre-eclampsia, possibly due to their similar pathogenic mechanisms. We present a case of a woman who developed PSCAD on postpartum day 1 from an uncomplicated vaginal delivery. Her diagnosis was complicated by simultaneous elevation of blood pressures and worsening gestational thrombocytopaenia. The patient underwent coronary artery catheterisation, which confirmed the diagnosis of SCAD and was treated conservatively. She was eventually discharged home without any longstanding complications. .
{"title":"Recognition and treatment of pregnancy-associated spontaneous coronary artery dissection in the postpartum period .","authors":"Ashli Gibb, Lauren Wehner, Chelsea Leipold, Michelle Chung","doi":"10.1136/bcr-2025-267181","DOIUrl":"https://doi.org/10.1136/bcr-2025-267181","url":null,"abstract":"<p><p>Spontaneous coronary artery dissection (SCAD) is a rare acute coronary artery event; however, it should always be considered in pregnant and postpartum patients as it can be life-threatening if untreated. Diagnosis of pregnancy-associated spontaneous coronary artery dissection (PSCAD) can be challenging when pathophysiological lines are blurred by changes related to pregnancy or concurrent obstetric processes such as pre-eclampsia or haemolysis elevated liver enzymes and low platelets. It has been reported that PSCAD has an increased incidence in women with pre-eclampsia, possibly due to their similar pathogenic mechanisms. We present a case of a woman who developed PSCAD on postpartum day 1 from an uncomplicated vaginal delivery. Her diagnosis was complicated by simultaneous elevation of blood pressures and worsening gestational thrombocytopaenia. The patient underwent coronary artery catheterisation, which confirmed the diagnosis of SCAD and was treated conservatively. She was eventually discharged home without any longstanding complications. .</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092236","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}
Chun Kei Boris Chow, Ryo Wan Lung Yeung, Wai David Au-Yang, Wai Lun Poon
Migration of a haemodialysis catheter is an uncommon complication that may compromise dialysis efficacy and patient safety. This report describes a case of haemodialysis catheter tip migration into the azygos vein. A man in his 40s presented with progressive dyspnoea and reduced extracorporeal blood flow during haemodialysis. Chest radiography revealed that both limbs of the left internal jugular tunnelled haemodialysis catheter had migrated to the right brachiocephalic vein and azygos vein, respectively, causing inefficient dialysis. The catheter was successfully repositioned using the modified loop-snare technique, involving a wire loop created with a reverse-curve catheter and goose-neck snare to address the kinked limb. This case underscores the importance of recognising catheter migration and the problem-solving skills of an interventionist. The modified loop-snare technique is an effective, minimally invasive method to reposition migrated haemodialysis catheters, avoiding cuff dissection and a new subcutaneous tunnel creation.
{"title":"Imaging features of azygos vein migration of haemodialysis catheter and repositioning using the modified loop-snare technique.","authors":"Chun Kei Boris Chow, Ryo Wan Lung Yeung, Wai David Au-Yang, Wai Lun Poon","doi":"10.1136/bcr-2025-267923","DOIUrl":"10.1136/bcr-2025-267923","url":null,"abstract":"<p><p>Migration of a haemodialysis catheter is an uncommon complication that may compromise dialysis efficacy and patient safety. This report describes a case of haemodialysis catheter tip migration into the azygos vein. A man in his 40s presented with progressive dyspnoea and reduced extracorporeal blood flow during haemodialysis. Chest radiography revealed that both limbs of the left internal jugular tunnelled haemodialysis catheter had migrated to the right brachiocephalic vein and azygos vein, respectively, causing inefficient dialysis. The catheter was successfully repositioned using the modified loop-snare technique, involving a wire loop created with a reverse-curve catheter and goose-neck snare to address the kinked limb. This case underscores the importance of recognising catheter migration and the problem-solving skills of an interventionist. The modified loop-snare technique is an effective, minimally invasive method to reposition migrated haemodialysis catheters, avoiding cuff dissection and a new subcutaneous tunnel creation.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12863239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092185","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}
Enteric duplication cysts are an uncommon congenital anomaly that can occur anywhere along the gastrointestinal tract. These rare abnormalities are predominantly diagnosed in children and seldom reported in adults. We report a case of a male in his 50s who presented with an acute abdomen due to perforation peritonitis. Emergency exploratory laparotomy revealed two communicating jejunal duplication cysts, one of which was perforated. The involved jejunal segment was resected, and a primary end-to-end anastomosis was performed. Ultrasonography, CT and MRI can assist in making a preoperative diagnosis; however, intraoperative diagnosis is common and histological examination is required for confirmation. In this case, the congenital anomaly was identified intraoperatively and managed surgically. Increased awareness of this rare congenital entity among clinicians can aid in early recognition and appropriate surgical planning.
{"title":"Perforated jejunal duplication cyst in an adult: diagnosis and management.","authors":"Vikram Saini, Parshant Kumar, Ujwal Chander, Megha Saini, Shubham Mehtani","doi":"10.1136/bcr-2025-268155","DOIUrl":"https://doi.org/10.1136/bcr-2025-268155","url":null,"abstract":"<p><p>Enteric duplication cysts are an uncommon congenital anomaly that can occur anywhere along the gastrointestinal tract. These rare abnormalities are predominantly diagnosed in children and seldom reported in adults. We report a case of a male in his 50s who presented with an acute abdomen due to perforation peritonitis. Emergency exploratory laparotomy revealed two communicating jejunal duplication cysts, one of which was perforated. The involved jejunal segment was resected, and a primary end-to-end anastomosis was performed. Ultrasonography, CT and MRI can assist in making a preoperative diagnosis; however, intraoperative diagnosis is common and histological examination is required for confirmation. In this case, the congenital anomaly was identified intraoperatively and managed surgically. Increased awareness of this rare congenital entity among clinicians can aid in early recognition and appropriate surgical planning.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092171","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}
Arthur Chen Wun Tan, Eun Young Han, Ezanul Harriz Abd Wahab, Timothy Chevassut
Necrotising soft tissue infection (NSTI), or necrotising fasciitis (NF), is a life-threatening, rapidly spreading bacterial infection affecting soft tissues. Mortality rates can be up to 70%, emphasising the need for early diagnosis and intervention. However, timely identification remains challenging, particularly in immunocompromised patients, due to nonspecific early signs. This case involves a patient who developed NF 12 days after R-CHOP (Rituximab, Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisolone) chemotherapy. Despite clinical and radiological evidence of NF and a high Laboratory Risk Indicator for Necrotising Fasciitis score, blood tests revealed leucopenia, neutropenia and lymphopenia, with no fever and a low National Early Warning Score of one. This atypical presentation underscores the difficulty in diagnosing NF in immunosuppressed individuals. The case highlights the complexity of managing NSTI in such populations, stressing the importance of rapid recognition and treatment to improve outcomes in these high-risk scenarios.
{"title":"Necrotising fasciitis in chronic lymphocytic leukaemia: a diagnostic challenge, management and learning points.","authors":"Arthur Chen Wun Tan, Eun Young Han, Ezanul Harriz Abd Wahab, Timothy Chevassut","doi":"10.1136/bcr-2025-268411","DOIUrl":"https://doi.org/10.1136/bcr-2025-268411","url":null,"abstract":"<p><p>Necrotising soft tissue infection (NSTI), or necrotising fasciitis (NF), is a life-threatening, rapidly spreading bacterial infection affecting soft tissues. Mortality rates can be up to 70%, emphasising the need for early diagnosis and intervention. However, timely identification remains challenging, particularly in immunocompromised patients, due to nonspecific early signs. This case involves a patient who developed NF 12 days after R-CHOP (Rituximab, Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisolone) chemotherapy. Despite clinical and radiological evidence of NF and a high Laboratory Risk Indicator for Necrotising Fasciitis score, blood tests revealed leucopenia, neutropenia and lymphopenia, with no fever and a low National Early Warning Score of one. This atypical presentation underscores the difficulty in diagnosing NF in immunosuppressed individuals. The case highlights the complexity of managing NSTI in such populations, stressing the importance of rapid recognition and treatment to improve outcomes in these high-risk scenarios.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092193","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}
Lisiane Hoff Calegari, Radhiya Al Maktumi, Soume Bhattacharya, Renjini Lalitha
{"title":"From fetal cardiac axis deviation to postnatal neurovascular diagnosis: road to a diagnosis of vein of Galen malformation.","authors":"Lisiane Hoff Calegari, Radhiya Al Maktumi, Soume Bhattacharya, Renjini Lalitha","doi":"10.1136/bcr-2025-269444","DOIUrl":"https://doi.org/10.1136/bcr-2025-269444","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092204","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}
An adolescent female with a prior diagnosis of Kawasaki disease (KD) presented with systemic inflammatory symptoms, including periorbital swelling, odynophagia and transient fever following initiation of statin therapy. Several months earlier, she experienced a prolonged febrile illness with unilateral neck pain and a desquamating rash, but without classic KD features. Imaging later revealed significant progression of coronary artery aneurysms and thrombus formation, raising concern for KD recurrence. Extensive autoimmune and infectious evaluations were largely unremarkable, apart from a primary Epstein-Barr virus infection. She was treated with intravenous immunoglobulin, corticosteroids and anticoagulation. This case highlights the diagnostic challenges posed by atypical presentations in a condition associated with rare recurrence rates. It underscores the need for long-term cardiovascular surveillance in patients with previous KD, even into adolescence.
{"title":"Recurrent systemic inflammatory episodes with coronary artery aneurysms in an adolescent with a history of Kawasaki disease.","authors":"Nehal Yemula, Rajinder S Andev","doi":"10.1136/bcr-2025-269606","DOIUrl":"https://doi.org/10.1136/bcr-2025-269606","url":null,"abstract":"<p><p>An adolescent female with a prior diagnosis of Kawasaki disease (KD) presented with systemic inflammatory symptoms, including periorbital swelling, odynophagia and transient fever following initiation of statin therapy. Several months earlier, she experienced a prolonged febrile illness with unilateral neck pain and a desquamating rash, but without classic KD features. Imaging later revealed significant progression of coronary artery aneurysms and thrombus formation, raising concern for KD recurrence. Extensive autoimmune and infectious evaluations were largely unremarkable, apart from a primary Epstein-Barr virus infection. She was treated with intravenous immunoglobulin, corticosteroids and anticoagulation. This case highlights the diagnostic challenges posed by atypical presentations in a condition associated with rare recurrence rates. It underscores the need for long-term cardiovascular surveillance in patients with previous KD, even into adolescence.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146092174","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}
Retropatellar (RP) chondral defects are commonly associated with trauma, sports-related injuries, or patellar dislocations. Effective management typically requires both cartilage repair and correction of underlying predisposing biomechanical factors. However, conventional imaging modalities may fail to detect subtle abnormalities.We describe a young female with persistent anterior knee pain in the absence of trauma or instability. Imaging studies, including radiographs and magnetic resonance imaging (MRI), confirmed an RP chondral defect, with no evidence of patella alta, malalignment or significant trochlear dysplasia. Surgical management was initiated with the focus on cartilage repair by autologous chondrocyte implantation (ACI). During first-stage arthroscopy, performed for autologous cartilage harvesting, dynamic assessment revealed a trochlear ridge impinging on the defect. This finding was considered a causative and perpetuating factor. ACI was therefore combined with mini-trochleoplasty to correct the impingement.This case demonstrates the diagnostic value of arthroscopy in detecting subtle biomechanical abnormalities. Surgeons should consider diagnostic arthroscopy as a dynamic tool to identify mechanical factors that may compromise cartilage repair outcomes.
{"title":"Dynamic arthroscopy in retropatellar cartilage defect: identifying trochlear ridge impingement and guiding towards mini-trochleoplasty.","authors":"Niels Merkelbach, Hidde D Veldman, Maarten Pf Janssen, Pieter J Emans","doi":"10.1136/bcr-2025-270085","DOIUrl":"https://doi.org/10.1136/bcr-2025-270085","url":null,"abstract":"<p><p>Retropatellar (RP) chondral defects are commonly associated with trauma, sports-related injuries, or patellar dislocations. Effective management typically requires both cartilage repair and correction of underlying predisposing biomechanical factors. However, conventional imaging modalities may fail to detect subtle abnormalities.We describe a young female with persistent anterior knee pain in the absence of trauma or instability. Imaging studies, including radiographs and magnetic resonance imaging (MRI), confirmed an RP chondral defect, with no evidence of patella alta, malalignment or significant trochlear dysplasia. Surgical management was initiated with the focus on cartilage repair by autologous chondrocyte implantation (ACI). During first-stage arthroscopy, performed for autologous cartilage harvesting, dynamic assessment revealed a trochlear ridge impinging on the defect. This finding was considered a causative and perpetuating factor. ACI was therefore combined with mini-trochleoplasty to correct the impingement.This case demonstrates the diagnostic value of arthroscopy in detecting subtle biomechanical abnormalities. Surgeons should consider diagnostic arthroscopy as a dynamic tool to identify mechanical factors that may compromise cartilage repair outcomes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146084113","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}
Muscular sarcoidosis is a rare disease characterised by non-caseating granulomas in muscle tissue. We report a woman in her late 70s with progressive lower-limb weakness, in whom ultrasonography revealed distinctive hypoechoic tumours in muscles. Using superb microvascular imaging (SMI), we detected intricate vascular networks within these lesions, which had not been previously reported in muscular sarcoidosis. Based on the clinical presentation and overall sonographic findings, muscular sarcoidosis was suspected, and a subsequent muscle biopsy provided findings consistent with this diagnosis. After steroid therapy, clinical improvement corresponded with decreased tumour size and reduced vascularity on follow-up ultrasonography. Ultrasonography enhanced by SMI may offer a valuable approach for both detecting muscular sarcoidosis and non-invasively monitoring its therapeutic response.
{"title":"Neuromuscular ultrasound with superb microvascular imaging in muscular sarcoidosis: morphological features and treatment monitoring.","authors":"Masakazu Hirose, Takuya Katayama, Shintaro Sugiyama, Sota Baba, Akiharu Yoshioka, Takamichi Kitagawa, Akiyo Shinde, Toshihiko Suenaga","doi":"10.1136/bcr-2025-267288","DOIUrl":"https://doi.org/10.1136/bcr-2025-267288","url":null,"abstract":"<p><p>Muscular sarcoidosis is a rare disease characterised by non-caseating granulomas in muscle tissue. We report a woman in her late 70s with progressive lower-limb weakness, in whom ultrasonography revealed distinctive hypoechoic tumours in muscles. Using superb microvascular imaging (SMI), we detected intricate vascular networks within these lesions, which had not been previously reported in muscular sarcoidosis. Based on the clinical presentation and overall sonographic findings, muscular sarcoidosis was suspected, and a subsequent muscle biopsy provided findings consistent with this diagnosis. After steroid therapy, clinical improvement corresponded with decreased tumour size and reduced vascularity on follow-up ultrasonography. Ultrasonography enhanced by SMI may offer a valuable approach for both detecting muscular sarcoidosis and non-invasively monitoring its therapeutic response.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146084138","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}
Ochoa syndrome, or urofacial syndrome, is a rare autosomal recessive disorder combining bladder dysfunction and abnormal facial expressions. We present the case of a teenager with genetically confirmed Ochoa syndrome and high-pressure, poorly compliant bladder. Despite initially preserved renal function, adherence challenges led to rapid deterioration and acute kidney injury. He underwent augmentation cystoplasty with marked improvement in renal function and symptom control. While the use of gastrocystoplasty has been reported in a child with Ochoa syndrome, this is to our knowledge the first report of utilising an ileal segment for augmentation cystoplasty. This highlights the importance of early recognition, multidisciplinary input and timely escalation when conservative measures fail.
{"title":"Preserving renal function in Ochoa syndrome: augmentation cystoplasty in an adolescent with neurogenic bladder.","authors":"Dayan Jacob, Sumathi Gelli, Pragnitha Chitteti, Mehwash Nadeem","doi":"10.1136/bcr-2025-268507","DOIUrl":"https://doi.org/10.1136/bcr-2025-268507","url":null,"abstract":"<p><p>Ochoa syndrome, or urofacial syndrome, is a rare autosomal recessive disorder combining bladder dysfunction and abnormal facial expressions. We present the case of a teenager with genetically confirmed Ochoa syndrome and high-pressure, poorly compliant bladder. Despite initially preserved renal function, adherence challenges led to rapid deterioration and acute kidney injury. He underwent augmentation cystoplasty with marked improvement in renal function and symptom control. While the use of gastrocystoplasty has been reported in a child with Ochoa syndrome, this is to our knowledge the first report of utilising an ileal segment for augmentation cystoplasty. This highlights the importance of early recognition, multidisciplinary input and timely escalation when conservative measures fail.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2026-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146084150","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}