BMJ Case Rep
· 2026 Jun · PMID 42230006
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Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis typically associated with autoimmune disease; however, its coexistence with giant cell arteritis (GCA) and optic neuritis is exceedingly uncommon and rarely rep...Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis typically associated with autoimmune disease; however, its coexistence with giant cell arteritis (GCA) and optic neuritis is exceedingly uncommon and rarely reported. We describe a woman in her early 70s with rheumatoid arthritis and recently diagnosed GCA who developed painful breast ulcers while on tapering systemic corticosteroids for GCA, shortly after a herpes zoster infection. The ulcers showed classic PG morphology and fulfilled Delphi diagnostic criteria. She had preceding MRI-confirmed bilateral optic neuritis followed by bilateral temporal arteritis. Intralesional corticosteroid therapy resulted in complete ulcer healing within 1 month. This case highlights an unusual constellation of PG, GCA, rheumatoid arthritis and optic neuritis, with herpes zoster as a potential pathergic trigger. It emphasises the importance of considering PG in atypical ulceration occurring in patients with multisystem autoimmunity, even when lesions develop despite ongoing low-dose systemic corticosteroid therapy.
Perez-Melendez Y, Selvakumar T, Greenberg C
… +3 more, Bergman S, Coltoff A, Youkhana K
BMJ Case Rep
· 2026 Jun · PMID 42230005
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Inherited fibrinogen disorders (IFDs) are rare, and limited evidence-based management guidelines exist, especially regarding haematological malignancies and haematopoietic stem cell transplantion (HSCT). This case highli...Inherited fibrinogen disorders (IFDs) are rare, and limited evidence-based management guidelines exist, especially regarding haematological malignancies and haematopoietic stem cell transplantion (HSCT). This case highlights the successful multidisciplinary management of an adult patient with acute Philadelphia-negative B-cell lymphoblastic leukaemia (B-ALL) and IFD from induction through HSCT. A patient in his 20s with an IFD is diagnosed with B-ALL and receives induction chemotherapy, including dose-reduced pegaspargase (PEG-Asp), blinatumomab consolidative therapy and HSCT for post-induction measurable residual disease (MRD) positivity. Management involved prophylactic anticoagulation (AC) during induction and pharmacokinetic-guided fibrinogen replacement. Complications were iatrogenic intracranial hypotension and acute catheter-associated proximal deep vein thrombosis managed with therapeutic AC. One year post-HSCT, he remained MRD-negative with 100% donor chimerism. This case highlights a management strategy for patients with IFD requiring chemotherapy and/or HSCT and addresses a critical gap in knowledge.
Gusatovic J, Stavngaard T, Gharehbagh SS
… +1 more, West AS
BMJ Case Rep
· 2026 Jun · PMID 42230004
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We present the case of a man in his late 50s who was admitted with an acute ischaemic stroke and subsequently developed rapidly progressive encephalopathy, multiple bilateral infarcts and intracranial haemorrhages. Despi...We present the case of a man in his late 50s who was admitted with an acute ischaemic stroke and subsequently developed rapidly progressive encephalopathy, multiple bilateral infarcts and intracranial haemorrhages. Despite initial suspicion of reversible cerebral vasoconstriction syndrome or posterior reversible encephalopathy syndrome, repeated neuroimaging, including high-resolution black-blood MRI, demonstrated vessel wall enhancement consistent with vasculitis. Extensive work-up excluded systemic vasculitis, infection, malignancy and cardioembolic sources. The clinical and radiological findings met the diagnostic criteria for probable primary angiitis of the central nervous system (PACNS). Definite diagnosis of PACNS requires histopathological confirmation by biopsy, which was not performed. Immunosuppressive therapy with high-dose corticosteroids and azathioprine was initiated, leading to a gradual improvement of the encephalopathic state although severe neurological deficits persisted. This case highlights the diagnostic challenges associated with PACNS and underscores the importance of repeated reassessment in patients with unexplained altered consciousness.
BMJ Case Rep
· 2026 Jun · PMID 42230003
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A patient in his late adolescence was referred for evaluation of low and apparently declining spinal bone density on dual-energy X-ray absorptiometry (DXA). Review of the DXA images revealed normal bone mineral density a...A patient in his late adolescence was referred for evaluation of low and apparently declining spinal bone density on dual-energy X-ray absorptiometry (DXA). Review of the DXA images revealed normal bone mineral density at other body sites but exceedingly low lumbar spine Z-scores which appeared to get progressively lower over time. The DXA result was explained by congenital spinal dysraphism with absent posterior spinous elements, rather than true low bone mineral content. Recognition of this structural artefact prevented unnecessary interventions. The case underscores the importance of correlating DXA scan results with clinical context and anatomic variations of bone structure, and of direct image review by the interpreting clinician. Understanding the technical principles and limitations of DXA, including artefact recognition, is essential to avoid misdiagnosis.
BMJ Case Rep
· 2026 Jun · PMID 42230002
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Neuromyelitis optica spectrum disorder (NMOSD) is a chronic inflammatory demyelinating disease mediated by aquaporin-4 antibodies (AQP4-IgG) and frequently requires long-term immunosuppressive therapy to prevent irrevers...Neuromyelitis optica spectrum disorder (NMOSD) is a chronic inflammatory demyelinating disease mediated by aquaporin-4 antibodies (AQP4-IgG) and frequently requires long-term immunosuppressive therapy to prevent irreversible neurological and visual disability. Coexistence with systemic lupus erythematosus (SLE) further complicates management. We report a young woman with AQP4-IgG-positive NMOSD who experienced recurrent optic neuritis and myelitis over several years before diagnostic confirmation. Attempts at multiple conventional steroid-sparing immunosuppressive agents were unsuccessful due to reproducible hypersensitivity reactions, later attributed to underlying cutaneous lupus SLE, resulting in prolonged corticosteroid dependence. Although rituximab was initially tolerated and achieved disease stability, relapse occurred when access to therapy was limited by socioeconomic factors. This case highlights the challenges of delivering standard-of-care treatment for NMOSD in real-world settings, where patient-specific factors and treatment accessibility may constrain optimal management, underscoring the need for individualised strategies to prevent cumulative visual and neurological morbidity.
Lucas M, da Bernarda Rodrigues I, Rosmaninho-Salgado J
… +1 more, Mirante A
BMJ Case Rep
· 2026 Jun · PMID 42225324
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A mid-adolescent boy presented with pubertal delay and micropenis. His sister had amenorrhoea. Laboratory evaluation confirmed hypogonadotropic hypogonadism. Brain MRI showed normal pituitary and hypothalamus, though the...A mid-adolescent boy presented with pubertal delay and micropenis. His sister had amenorrhoea. Laboratory evaluation confirmed hypogonadotropic hypogonadism. Brain MRI showed normal pituitary and hypothalamus, though the olfactory bulbs assessment was limited by artefacts. Testosterone therapy enabled the development of secondary sexual characteristics. Subsequent genetic testing identified compound heterozygous pathogenic variants in the gonadotropin-releasing hormone receptor gene, establishing the molecular basis of isolated hypogonadotropic hypogonadism (IHH). Identifying a genetic cause allowed proper counselling regarding prognosis, fertility induction and familial risk. Management focuses on completing sexual maturation, fertility induction and genetic counselling. This case emphasises that mid-adolescents with absent sexual characteristics apart from pubic hair should be evaluated for hypogonadotropic hypogonadism. Early recognition and prompt investigation support timely pubertal induction, fertility preservation and genetic counselling, improving long-term outcomes. Furthermore, this report highlights the pivotal role of genetic testing in guiding the diagnosis and long-term treatment management in patients with IHH.
BMJ Case Rep
· 2026 Jun · PMID 42225323
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A man in his early 70s with a prior history of high-grade urothelial carcinoma presented with a large left upper lobe lung mass detected on imaging. Endobronchial biopsy demonstrated non-small cell carcinoma with squamoi...A man in his early 70s with a prior history of high-grade urothelial carcinoma presented with a large left upper lobe lung mass detected on imaging. Endobronchial biopsy demonstrated non-small cell carcinoma with squamoid morphology and diffuse p40 positivity, supporting an initial diagnosis of primary pulmonary squamous cell carcinoma. The patient received neoadjuvant platinum-based chemotherapy and immunotherapy without a significant radiographic response. Subsequent lobectomy revealed a carcinoma with prominent papillary architecture and an immunophenotype characterised by cytokeratin 7, cytokeratin 20, GATA binding protein 3 (GATA3) and p40 positivity, supporting metastatic urothelial carcinoma. Review of the original biopsy confirmed limited tissue with overlapping squamoid features. This case highlights a potential diagnostic pitfall: metastatic urothelial carcinoma may demonstrate diffuse p40 expression and mimic primary pulmonary squamous cell carcinoma on limited lung biopsy, emphasising the importance of expanded immunohistochemical panels and clinicopathologic correlation.
Ghodke AS, Dahale A, Banerjee D
… +1 more, Kranthi D
BMJ Case Rep
· 2026 Jun · PMID 42225321
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Syphilitic proctitis is an uncommon presentation of infection and can closely resemble other anorectal conditions. Due to its non-specific symptoms, it is often underdiagnosed, particularly in individuals without system...Syphilitic proctitis is an uncommon presentation of infection and can closely resemble other anorectal conditions. Due to its non-specific symptoms, it is often underdiagnosed, particularly in individuals without systemic manifestations. A male patient in his 30s presented with isolated rectal bleeding. Sigmoidoscopy revealed multiple superficial ulcers over the folds of the anal canal, along with erythematous rectal mucosa and focal erosions. Given the patient's history of unprotected sexual intercourse, serological testing was performed. The Venereal Disease Research Laboratory test and histopathology from the rectal ulcers confirmed the diagnosis of syphilitic proctitis. The patient was treated successfully with intramuscular benzathine penicillin, resulting in complete resolution of symptoms. This case underscores the importance of considering infection in patients with unexplained rectal bleeding, particularly those with a history of unprotected sexual activity. Early recognition and appropriate antibiotic therapy are essential to prevent complications and limit transmission.
BMJ Case Rep
· 2026 Jun · PMID 42225318
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The human sense of smell is important for the awareness of danger like gas, fire or spoiled food, perception of the flavours of food and drink, and social interaction. The impact of limited olfactory capacity or total lo...The human sense of smell is important for the awareness of danger like gas, fire or spoiled food, perception of the flavours of food and drink, and social interaction. The impact of limited olfactory capacity or total loss of the sense of smell may be associated with decline in the quality of life and depressive symptoms. Various conditions can be the cause of olfactory disorders, including congenital absence of the olfactory nerve. We present a boy with Silver-Russell syndrome suffering from anosmia.
BMJ Case Rep
· 2026 Jun · PMID 42225316
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A woman in her 40s presented with massive upper gastrointestinal bleeding a few months after undergoing a single-anastomosis gastric bypass. CT abdomen and pelvis showed a marginal ulcer with adjacent inflammatory change...A woman in her 40s presented with massive upper gastrointestinal bleeding a few months after undergoing a single-anastomosis gastric bypass. CT abdomen and pelvis showed a marginal ulcer with adjacent inflammatory change and suspected colo-enteric fistulation. Endoscopy identified a bleeding fistulous tract; in the context of presumed Roux-en-Y anatomy, this was interpreted as a likely gastro-colic fistula, although diagnostic certainty was limited. Angiography failed to localise active extravasation. Emergency laparotomy ultimately confirmed single-anastomosis anatomy with a gastro-gastric fistula and erosion into the splenic artery. The patient required staged damage-control surgery including resection of the gastric remnant and splenectomy, followed by delayed reconstruction 1 year later. This case highlights diagnostic challenges in altered postbariatric anatomy and the potential for catastrophic vascular complications arising from fistulating marginal ulcer disease.
Hagiwara J, Sekine M, Sakawaki E
… +2 more, Sakawaki S, Takeyama Y
BMJ Case Rep
· 2026 Jun · PMID 42225315
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While immune checkpoint inhibitors (ICIs) have revolutionised cancer treatment, they can cause immune-related adverse events, including thyroid dysfunction and rarely, thyroid storm. Here, we present a rare case of thyro...While immune checkpoint inhibitors (ICIs) have revolutionised cancer treatment, they can cause immune-related adverse events, including thyroid dysfunction and rarely, thyroid storm. Here, we present a rare case of thyroid storm occurring during ICI therapy, in which clinical and immunological findings strongly suggested Graves' disease. A man in his 80s with advanced lung cancer was hospitalised for multiple rib fractures. During admission, he developed fever, delirium, atrial fibrillation and marked thyrotoxicosis, leading to a diagnosis of thyroid storm. Given his prior treatment with nivolumab and ipilimumab, destructive thyroiditis was initially suspected, as this is the most common mechanism of ICI-associated thyrotoxicosis. However, marked thyroid-stimulating antibody positivity was more suggestive of Graves' disease than destructive thyroiditis. This case highlights that ICI therapy-associated thyroid storm can arise not only from destructive thyroiditis but also from Graves' disease. Therefore, careful clinical evaluation is essential to determine the underlying pathophysiology and guide optimal management.
Kawai R, Miyashita F, Maki Y
… +7 more, Yoshimoto Y, Hiramine T, Okada T, Shigehatake Y, Nishimuta Y, Watanabe O, Takashima H
BMJ Case Rep
· 2026 Jun · PMID 42225314
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Fish bone ingestion is common, but cerebral air embolism as a secondary complication is exceedingly rare. A man in his 80s presented to our tertiary emergency centre after sudden collapse following oesophageal discomfort...Fish bone ingestion is common, but cerebral air embolism as a secondary complication is exceedingly rare. A man in his 80s presented to our tertiary emergency centre after sudden collapse following oesophageal discomfort from fish bone ingestion the previous day. Head CT revealed punctate hypodense foci in the right frontal white matter, consistent with cerebral air, while CT perfusion showed decreased cerebral blood flow with delayed transit time. Chest CT demonstrated an impacted fish bone in the distal oesophagus and air bubbles in the pulmonary vein. Urgent endoscopy confirmed the fish bone, which was removed under general anaesthesia with mucosal clipping for haemostasis. MRI on day six showed cortical infarctions in the right hemisphere. This case underscores the diagnostic importance of multimodal imaging and procedural planning for the safe management of cerebral air embolism caused by oesophageal perforation.
Tanglay O, Cordato D, Ng S
… +3 more, Hsu D, Harrington Z, Cappelen-Smith C
BMJ Case Rep
· 2026 May · PMID 42215068
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The decision to resume anticoagulation after intracerebral haemorrhage is a major clinical challenge, with current evidence offering limited guidance on balancing thrombotic and haemorrhagic risks. We present a case that...The decision to resume anticoagulation after intracerebral haemorrhage is a major clinical challenge, with current evidence offering limited guidance on balancing thrombotic and haemorrhagic risks. We present a case that highlights the intersection of multiple rare but clinically significant conditions against a background of prothrombotic risk. The patient's course exemplifies the complex interplay between thrombosis and bleeding and the therapeutic dilemmas surrounding the timing and choice of anticoagulation. Current evidence, derived largely from observational cohorts and small randomised trials, supports a reduction in ischaemic events with anticoagulation but consistently demonstrates increased haemorrhagic risk, with limited advice on how best to individualise decisions. This case underscores the importance of multidisciplinary management, shared decision-making and the pressing need for personalised strategies in navigating anticoagulation after intracerebral haemorrhage.
BMJ Case Rep
· 2026 May · PMID 42215067
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This report presents a rare case of a boy in middle childhood who developed Alice in Wonderland syndrome (AIWS) after an adenovirus infection. During the febrile phase, he experienced persistent auditory hallucinations t...This report presents a rare case of a boy in middle childhood who developed Alice in Wonderland syndrome (AIWS) after an adenovirus infection. During the febrile phase, he experienced persistent auditory hallucinations that continued into the post-febrile period and gradually attenuated, followed by visual perceptual distortions. Neurological examination, electroencephalography and brain imaging revealed unremarkable findings. He had pre-existing hyperactivity, talkativeness and delayed task performance, which were identified after presentation and led to a diagnosis of attention-deficit/hyperactivity disorder (ADHD). To our knowledge, this is the first reported case of AIWS associated with adenovirus infection, showing a biphasic pattern of auditory and visual disturbances. Although auditory symptoms have been debated as possible manifestations within the AIWS spectrum, the auditory hallucinations in this case may also reflect adenovirus-associated encephalitic or transient neurofunctional disturbances, while the visual perceptual distortions were clinically consistent with AIWS. His symptoms improved rapidly after resuming co-sleeping with his mother, suggesting that psychosocial stress-including psychological vulnerability associated with ADHD and attachment insecurity following changes in family circumstances-may have contributed to the persistence and later recovery of his symptoms. This case highlights the importance of developmental and psychosocial factors in paediatric AIWS.
BMJ Case Rep
· 2026 May · PMID 42215066
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A boy in mid-childhood presented with diminished vision and corneal oedema in the right eye after blunt trauma. Visual acuity was hand motions in the right eye. Slit lamp examination showed diffuse corneal oedema with an...A boy in mid-childhood presented with diminished vision and corneal oedema in the right eye after blunt trauma. Visual acuity was hand motions in the right eye. Slit lamp examination showed diffuse corneal oedema with an area of relative translucency in the mid-peripheral region. The left eye had features characteristic of posterior amorphous corneal dystrophy (PACD). In the right eye, 15 radial corneal compression sutures were applied circumferentially over the posterior membrane defect. Corneal oedema resolved rapidly on postoperative day 1, with visual acuity of 20/125. Corneal clarity continued to improve, and visual acuity was 20/40 at the 4-month follow-up when all the sutures were removed. Serial documentation using optical coherence tomography and Scheimpflug imaging corroborated with clinical features. Circumferential mid-peripheral posterior membrane dehiscence occurring in PACD can be effectively managed with compression sutures to achieve favourable outcomes. Protective eyewear should be included in the management of such eyes.