BMJ Case ReportsPub Date : 2026-10-08DOI: 10.1136/bcr-2026-274204
Shivani Sidana, Lata Goyal, Armaandeep Kaur Virk, Mehak Gupta
{"title":"Pycnodysostosis causing short stature and recurrent fractures with sclerotic bones in a child.","authors":"Shivani Sidana, Lata Goyal, Armaandeep Kaur Virk, Mehak Gupta","doi":"10.1136/bcr-2026-274204","DOIUrl":"https://doi.org/10.1136/bcr-2026-274204","url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149134753","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 : 2026-10-07DOI: 10.1136/bcr-2026-275255
Orsolya Bálint, Eva Suranyi, Yi-Che Chang Chien, Dorottya Pasztor
{"title":"Scleral perforation in a young adult with Burkitt lymphoma.","authors":"Orsolya Bálint, Eva Suranyi, Yi-Che Chang Chien, Dorottya Pasztor","doi":"10.1136/bcr-2026-275255","DOIUrl":"10.1136/bcr-2026-275255","url":null,"abstract":"<p><p>A male in his 20s with Burkitt lymphoma (BL) treated with chemotherapy was referred for lagophthalmos and left facial nerve palsy and re-evaluated weeks later due to acute scleral perforation.The perforated area was surgically closed, but on the first postoperative day, corneal thinning down to the Descemet membrane was noted, with iris adherence to the endothelium and progressive expansion of the affected sclera. Further globe reconstruction was deemed impossible; therefore, enucleation was performed. Histopathology revealed keratoconjunctivitis and acute perforative scleritis, though the aetiology could not be determined. A review of internal medicine records identified <i>Pseudomonas aeruginosa</i> bacteraemia, which may have been the underlying cause of the ocular condition.Intraocular involvement in BL is rare, and although <i>P. aeruginosa</i> is a leading cause of infective necrotising scleritis, scleral perforation due to this bacterium without prior surgery has not been reported.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126564","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 : 2026-10-07DOI: 10.1136/bcr-2026-274547
Maria Laura Passaro, Matteo Airaldi, Tobi Somerville, Laura Atkinson, Alfredo Borgia, Stephen B Kaye
{"title":"Time to improve laboratory protocols in microbial keratitis: broad-range Internal Transcribed Spacer sequencing in refractory culture-negative keratitis.","authors":"Maria Laura Passaro, Matteo Airaldi, Tobi Somerville, Laura Atkinson, Alfredo Borgia, Stephen B Kaye","doi":"10.1136/bcr-2026-274547","DOIUrl":"https://doi.org/10.1136/bcr-2026-274547","url":null,"abstract":"<p><p>A woman in her 60s who was a soft contact lens wearer presented with rapidly progressive microbial keratitis unresponsive to intensive empirical therapy. Despite extensive investigations - including conventional cultures, impression cytology, in vivo imaging, and repeated targeted PCR from corneal and aqueous samples - the aetiology remained unclear, with all tests persistently negative. Progressive inflammation, enlarging hypopyon, stromal melt and rising intraocular pressure necessitated anterior chamber (AC) washout followed by therapeutic penetrating keratoplasty with extracapsular cataract extraction. Histopathology and PCR from the excised button were again non-diagnostic. When new epithelial breakdown and an AC mass raised concern for ongoing recrudescence of the infection, a loose corneal suture was removed and analysed: broad-range ITS2 rRNA sequencing detected fungal DNA consistent with <i>Fusarium</i>, providing the first microbiological clue after weeks of negative investigations although not corroborated by other tests and guiding targeted antifungal therapy. This case underscores the limitations of standard microbiology and targeted PCR in deep, pre-treated keratitis and highlights the value of broad-range Internal Transcribed Spacer sequencing as a critical complementary diagnostic tool when conventional methods repeatedly fail.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126632","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 : 2026-10-07DOI: 10.1136/bcr-2026-273344
Ian R Reekie, Jekaterina Sidhom, Randhir Chavan
{"title":"Acute retinal necrosis refractory to treatment.","authors":"Ian R Reekie, Jekaterina Sidhom, Randhir Chavan","doi":"10.1136/bcr-2026-273344","DOIUrl":"https://doi.org/10.1136/bcr-2026-273344","url":null,"abstract":"<p><p>A female patient in her 60s presented with a right eye hypertensive uveitis and subsequently developed vitritis and retinitis. An anterior chamber tap was PCR positive for herpes simplex virus. Despite oral valaciclovir 2 g three times a day and an initial intravitreal foscarnet 2.4 mg/0.1 mL injection her condition worsened, with more extensive retinal necrosis and retinal haemorrhages. A repeat anterior chamber tap was performed and PCR testing confirmed viral strains resistant to aciclovir. The patient was therefore treated with repeated intravitreal injections of foscarnet along with intravenous foscarnet which stabilised her clinical condition for a time, though unfortunately her retina later detached. Acute retinal necrosis is an uncommon but visually devastating infectious uveitis; in situations where initial antiviral treatments are not stabilising or improving the clinical picture it is important to consider the rare possibility of antiviral resistance. Intravenous foscarnet carries the risks of unpleasant and potentially dangerous side effects, about which patients must be counselled.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126520","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 : 2026-10-07DOI: 10.1136/bcr-2025-267764
Ana Rita Rodrigues, Delfim Duarte, Nuno Oliveira
{"title":"Silent danger behind the forehead: Pott's puffy tumour presenting without systemic symptoms.","authors":"Ana Rita Rodrigues, Delfim Duarte, Nuno Oliveira","doi":"10.1136/bcr-2025-267764","DOIUrl":"https://doi.org/10.1136/bcr-2025-267764","url":null,"abstract":"<p><p>Pott's puffy tumour (PPT) is a rare complication of frontal sinusitis involving subperiosteal abscess and frontal bone osteomyelitis, often leading to serious intracranial sequelae. We report a case of a man in his 50s who presented with progressive, painless forehead swelling despite multiple antibiotic courses. Imaging confirmed bilateral subperiosteal collections and a right-sided epidural empyema. Initial management included broad-spectrum antibiotics, endoscopic sinus surgery and external drainage. Due to persistent collections, a second-stage osteoplastic approach was performed, resulting in complete resolution. Cultures were sterile, possibly due to early antibiotic administration. The patient completed 6 weeks of parenteral antibiotics and remained symptom-free at the 8-month follow-up. This case highlights the importance of early recognition, imaging and surgical management of PPT to prevent complications. An individualised, combined endoscopic and external approach may be essential in advanced presentations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126600","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 : 2026-10-07DOI: 10.1136/bcr-2026-273050
Shama Jawed, Brandon Daffue, Michael Riordan, Frances Enright
{"title":"Facial nerve palsy and hypertension; unusual presentation of apparent mineralocorticoid excess (AME) syndrome in a paediatric patient.","authors":"Shama Jawed, Brandon Daffue, Michael Riordan, Frances Enright","doi":"10.1136/bcr-2026-273050","DOIUrl":"https://doi.org/10.1136/bcr-2026-273050","url":null,"abstract":"<p><p>We report a rare case of a monogenic form of hypertension where a boy in early childhood presented with a 2-day history of right-sided facial palsy. Severe hypertension was evident with signs of end-organ damage. This report aims to highlight the diagnostic process when a common presentation, such as facial palsy, uncovers a serious and rare underlying condition that demands urgent multidisciplinary care. Further workup revealed that the patient had hypokalaemic metabolic alkalosis with low serum renin and aldosterone levels. His urinary steroid profile was suggestive of Apparent Mineralocorticoid Excess. A homozygous autosomal recessive variant in the <i>hydroxysteroid 11-beta dehydrogenase 2</i> gene confirmed a diagnosis of 11β-hydroxysteroid dehydrogenase type 2 deficiency. The syndrome has fewer than one hundred cases documented to date, with reversal of the mineralocorticoid effect as the primary treatment. This case highlights the importance of a step-by-step approach to paediatric hypertension and the need for an early urinary steroid profile.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126585","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 : 2026-10-07DOI: 10.1136/bcr-2025-271520
Jennifer Khong, Alisa Liberman, Arabella Hammoudeh, Karthik Kailasam
{"title":"Fatal haemophagocytic lymphohistiocytosis and atypical haemolytic uraemic syndrome following coronavirus disease 2019 infection.","authors":"Jennifer Khong, Alisa Liberman, Arabella Hammoudeh, Karthik Kailasam","doi":"10.1136/bcr-2025-271520","DOIUrl":"10.1136/bcr-2025-271520","url":null,"abstract":"<p><p>A previously healthy woman in her early 30s developed rash, fever and arthralgia 3 weeks after SARS-CoV-2 infection, rapidly progressing to multiorgan failure. Laboratory studies revealed severe thrombocytopenia (23×10<sup>9</sup>/L), microangiopathic haemolytic anaemia, acute kidney injury and ferritin >100 000 ng/mL. Kidney biopsy demonstrated thrombotic microangiopathy with negative antinuclear antibody, supporting atypical haemolytic uraemic syndrome (aHUS). Concurrently, low haptoglobin, elevated lactate dehydrogenase (2500 U/L), interleukin-2 receptor (18 644), triglycerides (425 mg/dL) and splenomegaly supported haemophagocytic lymphohistiocytosis (HLH). Despite plasmapheresis, corticosteroids, etoposide, eculizumab and continuous renal replacement therapy, she died 7 weeks after SARS-CoV-2 infection. Autopsy confirmed aHUS with extensive thrombotic microangiopathy and HLH with bone marrow haemophagocytosis. This case underscores the importance of recognising concurrent aHUS and HLH after COVID-19, as complement-mediated injury and hyperinflammation may produce catastrophic outcomes.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126573","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 : 2026-10-07DOI: 10.1136/bcr-2025-266256
Sujith Botsa, Sanjana Somanath Hansoge, Nishant Banait, Amit Kumar
{"title":"Complex presentation of neonatal arthrogryposis multiplex congenita: insights into a multifactorial disorder.","authors":"Sujith Botsa, Sanjana Somanath Hansoge, Nishant Banait, Amit Kumar","doi":"10.1136/bcr-2025-266256","DOIUrl":"https://doi.org/10.1136/bcr-2025-266256","url":null,"abstract":"<p><p>This case report details a neonate diagnosed with arthrogryposis multiplex congenita (AMC), specifically the amyoplasia subtype, presenting with bilateral talipes equinovarus, elbow contractures, ulnar deviation of the wrists and clinodactyly. Additional clinical findings included mild developmental dysplasia of the hips and a small atrial septal defect. Genetic analysis revealed heterozygous variants of uncertain significance in the <i>SYNE1</i> and <i>CHD4</i> genes, both of which were inherited from asymptomatic parents. While <i>SYNE1</i> is associated with autosomal recessive AMC type 3 and <i>CHD4</i> with Sifrim-Hitz-Weiss syndrome, the contribution of these genes to this patient's phenotype remains unclear. This case underscores the diagnostic complexities of AMC and highlights the necessity for further genetic investigations and long-term follow-up to clarify genotype-phenotype correlations.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"19 10","pages":""},"PeriodicalIF":0.4,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149126466","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}