Yazaki N, Katsurada Y, Okumura T
… +1 more, Ueda S
BMJ Case Rep
· 2026 Jun · PMID 42362345
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IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory disorder that typically presents with multiorgan involvement. Herein, we report a rare phenotype in which the disease was confined solely to the kidneys and...IgG4-related disease (IgG4-RD) is a systemic fibroinflammatory disorder that typically presents with multiorgan involvement. Herein, we report a rare phenotype in which the disease was confined solely to the kidneys and lungs. A man in his 60s presented with a 6-month history of cough and exertional dyspnoea. Imaging revealed bilateral renal enlargement with decreased enhancement, compatible with IgG4-related kidney disease, whereas the pulmonary findings were atypical for IgG4-related lung disease and radiologically mimicked non-specific interstitial pneumonia, making it difficult to determine whether the pulmonary lesions represented part of the same disease process or a separate interstitial lung disease. Serological findings indicated IgG4-RD. To clarify whether both organs were affected by a single systemic process, a thoracoscopic surgical lung biopsy was performed. The histopathological examination confirmed IgG4-positive plasma cell-rich inflammation establishing the diagnosis of IgG4-RD. Corticosteroid therapy resulted in radiological and clinical improvements of both organs. Histopathological evaluation of the lung lesions enabled a unified diagnosis of both the renal and pulmonary manifestations. A stepwise diagnostic approach using lung biopsy facilitated accurate diagnosis and effective treatment.
Deshmukh M, Vishwakarma JC, Chitale N
… +1 more, Palekar T
BMJ Case Rep
· 2026 Jun · PMID 42362344
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A man in his 60s presented with acute hypoxaemic respiratory failure secondary to post-COVID-19 fibrotic pneumonia, requiring 3 L/min oxygen therapy (peripheral oxygen saturation (SpO) 75%), peripheral cyanosis, modified...A man in his 60s presented with acute hypoxaemic respiratory failure secondary to post-COVID-19 fibrotic pneumonia, requiring 3 L/min oxygen therapy (peripheral oxygen saturation (SpO) 75%), peripheral cyanosis, modified Borg Dyspnoea Scale score 4 and exertional desaturation. An 8-week physiotherapy protocol progressed from diaphragmatic breathing/gravity-assisted postures (days 1-3) through segmental percussion/proprioceptive neuromuscular facilitation (day 4 to week 2), short-lever/long-lever upper limb exercises (weeks 3-4), to trunk mobility/ambulation (weeks 5-8). Outcomes included oxygen weaning to 0.5 L/min, SpO 94% on room air, Borg score 1 and 50 m unsupported ambulation. The interventions enhanced secretion clearance, alveolar recruitment and ventilation-perfusion matching via titration matched to clinical stability (SpO ≥90% phase thresholds). This demonstrates the role of structured physiotherapy in resource-limited settings for post-COVID-19 recovery.
Ziliotti R, Seitz L, Bonadies N
… +2 more, Banz Y, Seitz P
BMJ Case Rep
· 2026 Jun · PMID 42362343
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A man in his 50s receiving immunomodulatory therapy for presumed Behçet's disease presented with odynophagia and jaw pain. Three months earlier, he had developed deep vein thrombosis and extensive superficial phlebitis w...A man in his 50s receiving immunomodulatory therapy for presumed Behçet's disease presented with odynophagia and jaw pain. Three months earlier, he had developed deep vein thrombosis and extensive superficial phlebitis with transmural inflammation on histopathology. Imaging revealed carotid artery vasculitis and unilateral inflammation around the temporal vessels. Ultrasound demonstrated wall thickening of the right temporal vein with normal temporal arteries. Persistent systemic inflammation and bicytopenia prompted bone marrow examination revealing myelodysplastic syndrome. Detection of a somatic mutation confirmed VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). Glucocorticoids and interleukin-1 blockade were initiated. Due to severe cytopenia, the patient underwent allogeneic haematopoietic stem cell transplantation, resulting in clinical remission. VEXAS causes variable vessel vasculitis, affecting arteries and veins alike even without thrombosis. In older men with myelodysplasia or cytopenia, VEXAS should be considered in the differential of both venous and arterial vasculitis. Ultrasound may distinguish temporal phlebitis from giant cell arteritis.
BMJ Case Rep
· 2026 Jun · PMID 42362342
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A woman in her 30s presented with sudden bilateral vision loss, ocular pain, headache, nausea and vomiting. She had been taking topiramate for migraine prophylaxis for 10 days. Examination revealed shallow anterior chamb...A woman in her 30s presented with sudden bilateral vision loss, ocular pain, headache, nausea and vomiting. She had been taking topiramate for migraine prophylaxis for 10 days. Examination revealed shallow anterior chambers and intraocular pressure (IOP) of 59 mm Hg OD and 55 mm Hg OS, with appositional angle closure. Anterior segment optical coherence tomography confirmed closed angles and ultrasound biomicroscopy revealed ciliary body effusion. A diagnosis of topiramate-induced acute angle closure was made. Prompt treatment with systemic and topical steroids, cycloplegics, mannitol and topical anti-glaucoma drugs led to rapid improvement in vision and IOP within 6 hours. Full recovery was achieved by day 3. Acetazolamide triggered a recurrence of elevated IOP. This case highlights the importance of early initiation of systemic steroids, which can result in rapid anatomical and functional recovery, and underscores the potential for acetazolamide to worsen angle closure in such cases.
BMJ Case Rep
· 2026 Jun · PMID 42362341
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Gallbladder torsion is an uncommon cause of acute abdomen that occurs when the gallbladder rotates around its mesentery, leading to vascular compromise and ischaemia. Although preoperative diagnosis is uncommon, certain...Gallbladder torsion is an uncommon cause of acute abdomen that occurs when the gallbladder rotates around its mesentery, leading to vascular compromise and ischaemia. Although preoperative diagnosis is uncommon, certain imaging findings, including a floating gallbladder or twisting of the cystic pedicle, may raise suspicion.A woman in her 70s presented with acute right upper quadrant pain and vomiting of less than 24-hour duration. Ultrasound demonstrated a markedly distended gallbladder with wall thickening and markedly reduced Doppler wall perfusion, while CT showed an abnormally oriented gallbladder with a possible twisted cystic pedicle. Given concern for vascular compromise, urgent surgical exploration was performed. Intraoperatively, the gallbladder was found to be freely mobile and twisted around the cystic duct and artery with ischaemic changes. Robot-assisted laparoscopic cholecystectomy was completed without complication. Histopathology confirmed transmural ischaemic necrosis.Gallbladder torsion should be considered in elderly patients presenting with abrupt right upper quadrant pain, low body habitus, and imaging findings that may overlap with acute cholecystitis.
BMJ Case Rep
· 2026 Jun · PMID 42362340
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Retroperitoneal teratomas constitute 5%-15% of all teratomas, with malignant transformation occurring in 3%-6% of cases, most commonly to squamous cell carcinoma. Adenocarcinoma of colorectal phenotype is exceedingly rar...Retroperitoneal teratomas constitute 5%-15% of all teratomas, with malignant transformation occurring in 3%-6% of cases, most commonly to squamous cell carcinoma. Adenocarcinoma of colorectal phenotype is exceedingly rare, with roughly 15 reported cases, one-third of which showed metastasis. Ovarian metastasis has not been previously documented; we report the first known case. A multiparous woman in her late 30s was diagnosed with a mature retroperitoneal teratoma that underwent malignant transformation into colonic-type adenocarcinoma with para-aortic lymph node metastases. She underwent surgical resection, including left nephrectomy and lymph node dissection, followed by adjuvant capecitabine plus oxaliplatin (CAPEOX) chemotherapy. Six months later, she developed ovarian metastasis, requiring additional surgery. She remains disease-free at the 1-year follow-up. This case illustrates the aggressive behaviour of retroperitoneal teratomas with adenocarcinoma transformation. Owing to its rarity, treatment is extrapolated from mucinous ovarian and colorectal cancer protocols. Optimal management includes surgery and systemic therapy, with long-term surveillance critical for detecting recurrence or delayed metastasis.
BMJ Case Rep
· 2026 Jun · PMID 42362339
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A hernia containing a Meckel's diverticulum is termed a Littre hernia, with the mixed subtype describing the presence of additional abdominal viscera. Mixed Littre hernias are rare and often identified intra-operatively....A hernia containing a Meckel's diverticulum is termed a Littre hernia, with the mixed subtype describing the presence of additional abdominal viscera. Mixed Littre hernias are rare and often identified intra-operatively. We report the case of a man in his 60s undergoing a right inguinoscrotal hernia repair who was found to have a 10 cm Meckel's diverticulum with a loop of ileum within the hernia sac. The diverticulum appeared normal and was managed non-operatively with no complications at 6 months. Management of an incidental Meckel's diverticulum remains controversial, divided between non-operative and operative management which can include selective or routine prophylactic resection. High-quality evidence is limited, and existing studies focus on intra-abdominal Meckel's diverticula rather than those within a hernia sac which may have a distinct risk profile. Further research and development of guidelines are required to guide intra-operative decision making in rare cases such as a mixed Littre hernia.
BMJ Case Rep
· 2026 Jun · PMID 42362338
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Iatrogenic chylothorax, a rare but serious complication, can occur after central venous catheter (CVC) placement. It is usually linked to left internal jugular vein (IJV) cannulation due to the anatomical location of the...Iatrogenic chylothorax, a rare but serious complication, can occur after central venous catheter (CVC) placement. It is usually linked to left internal jugular vein (IJV) cannulation due to the anatomical location of the thoracic duct. However, right IJV cannulation has also been reported to cause chylothorax. We present a case of a man in his early 50s who developed a right-sided chylothorax after right IJV cannulation. Analysis of the pleural fluid confirmed the diagnosis, showing high triglyceride levels (271 mg/dL). The condition improved quickly after draining the fluid with a pigtail catheter and removing the CVC.
BMJ Case Rep
· 2026 Jun · PMID 42362337
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Hidrocystomas are benign cystic skin tumours of sweat gland origin which often involve the eyelids but are usually solitary. We report the case of a middle-aged man with multiple bilateral eyelid hidrocystomas, palmoplan...Hidrocystomas are benign cystic skin tumours of sweat gland origin which often involve the eyelids but are usually solitary. We report the case of a middle-aged man with multiple bilateral eyelid hidrocystomas, palmoplantar keratoderma, hypodontia and nail dystrophy, in keeping with a diagnosis of Schöpf-Schulz-Passarge syndrome, an exceedingly rare ectodermal dysplasia. Hyperprolactinaemia was found on testing, and radiology revealed an incidental prolactinoma. Raised serum prolactin has not been previously associated with Schöpf-Schulz-Passarge syndrome. The significance of raised serum prolactin in the context of multiple eyelid hidrocystomas is discussed.
Chirumamilla L, Challa SR, Adidam S
… +4 more, Ganju N, Laiyemo A, Kibreab A, Aduli F
BMJ Case Rep
· 2026 Jun · PMID 42362336
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Upper gastrointestinal bleeding (UGIB) secondary to malignancy is frequently refractory to conventional endoscopic therapies. We report a man in his 60s who presented with severe anaemia, melaena and haemodynamic instabi...Upper gastrointestinal bleeding (UGIB) secondary to malignancy is frequently refractory to conventional endoscopic therapies. We report a man in his 60s who presented with severe anaemia, melaena and haemodynamic instability. Urgent investigation demonstrated a friable, actively bleeding fundal mass with imaging features suspicious for metastatic gastric malignancy. Standard haemostatic measures, including epinephrine injection and haemostatic clips, failed to achieve bleeding control, resulting in progressive transfusion dependence. After multidisciplinary review, salvage endoscopic haemostasis was achieved using a haemostatic powder, followed by selective embolisation of the left gastric artery to consolidate haemostatic control. The patient stabilised without further transfusion requirements and was discharged with community palliative care support.This case illustrates the diagnostic and therapeutic complexity of refractory malignant UGIB and the need for a coordinated multidisciplinary strategy-spanning gastroenterology, interventional radiology and palliative care-guided by the evolving clinical picture and goals of care.
Pahari A, Surkunda ST, Stanley W
… +1 more, Kramadhari H
BMJ Case Rep
· 2026 Jun · PMID 42362335
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We report the case of a woman in her 20s who presented to the emergency department with fever, reduced vision and hemiparesis. She had experienced an incomplete spontaneous abortion 1 month prior at 8 weeks of gestation...We report the case of a woman in her 20s who presented to the emergency department with fever, reduced vision and hemiparesis. She had experienced an incomplete spontaneous abortion 1 month prior at 8 weeks of gestation for which she underwent dilation and curettage. MRI of the brain revealed multiple embolic strokes. Blood cultures confirmed methicillin-resistant Cardiac imaging identified a vegetation on the mitral valve. Persistent vaginal bleeding with associated hypotension prompted further evaluation, leading to the detection of enhanced myometrial vascularity with an intracavitary aneurysm. Glue embolisation was performed, resulting in the complete cessation of bleeding and the patient recovered well following targeted intravenous antibiotic therapy. Prompt diagnosis, multidisciplinary management and targeted antibiotic therapy were crucial in achieving a favourable outcome.
Bal A, Tamang M, Sahoo B
… +2 more, Patro PS, Mahalik SK
BMJ Case Rep
· 2026 Jun · PMID 42350057
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Urinary bladder agenesis is an extraordinarily rare congenital anomaly, often associated with complex genitourinary malformations and poses significant diagnostic challenges in infancy. We report an infant girl with prog...Urinary bladder agenesis is an extraordinarily rare congenital anomaly, often associated with complex genitourinary malformations and poses significant diagnostic challenges in infancy. We report an infant girl with progressive abdominal distension, continuous urinary dribbling and bilateral hydronephrosis, ultimately found to have bladder agenesis with bilateral pelviureteric junction obstruction, ectopic ureteric insertion into the vagina and malrotated kidneys. Multimodality imaging, including ultrasonography, radionuclide diuretic renography with single-photon emission CT/CT and contrast-enhanced CT, was essential for establishing the diagnosis when the bladder was not visualised on initial evaluation. The child underwent staged management with initial decompression by percutaneous nephrostomy followed by left pyeloplasty, and was planned for delayed bladder reconstruction, but was lost to follow-up. This case highlights the need for high index of suspicion when the bladder is not visualised on imaging in infants with continuous dribbling and upper tract dilatation. It underscores the need to prioritise relief of obstruction before definitive reconstruction.
BMJ Case Rep
· 2026 Jun · PMID 42350056
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A female patient diagnosed with an undifferentiated connective tissue disorder (UCTD) experienced progressive symptoms including hair loss, vomiting, diarrhoea and abdominal pain accompanied by haematological changes of...A female patient diagnosed with an undifferentiated connective tissue disorder (UCTD) experienced progressive symptoms including hair loss, vomiting, diarrhoea and abdominal pain accompanied by haematological changes of anaemia, absolute neutropenia with thrombocytosis following 7 weeks of azathioprine therapy. Consequently, azathioprine was discontinued, resulted in hematologic recovery and hair regrowth. Genetic analysis revealed the presence of an polymorphism, indicating impaired thiopurine metabolism. Hair loss was the first symptom, above all others, indicating an early onset of anagen effluvium as a warning sign of myelotoxicity. The reactive thrombocytosis was attributed to cytokine-mediated inflammation involving IL-1 and IL-6, suggesting a combined haematological response to azathioprine. It is recommended that Clinicians perform a preliminary genetic testing to prevent the need for frequent blood monitoring and to avoid myelotoxicity.
Manji Z, Chauhan L, Asis J
… +2 more, Chreif H, Power S
BMJ Case Rep
· 2026 Jun · PMID 42342281
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We report a man in his 90s who was referred to our pleural clinic with a left-sided moderate large pleural effusion. Despite the absence of systemic inflammatory features and normal serum inflammatory markers, pleural fl...We report a man in his 90s who was referred to our pleural clinic with a left-sided moderate large pleural effusion. Despite the absence of systemic inflammatory features and normal serum inflammatory markers, pleural fluid microbiology was diagnostic of empyema. Initially, the patient was treated with a short course of antibiotics, as the clinical impression of the multidisciplinary team was that the presentation did not align with typical systemic inflammatory features of empyema. However, recurrence of the effusion after drainage led to further bacterial growth from repeat samples, ultimately clarifying the diagnosis. This illustrates how an attenuated systemic inflammatory response, consistent with immunosenescence, can complicate the diagnosis and management of pleural infection in elderly patients.
BMJ Case Rep
· 2026 Jun · PMID 42336490
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Huntingtons disease (HD) is characterised by progressive motor impairment and neuropsychiatric dysfunction; however, early presentations may be dominated by psychiatric symptoms. We describe a man in his 50s with a docum...Huntingtons disease (HD) is characterised by progressive motor impairment and neuropsychiatric dysfunction; however, early presentations may be dominated by psychiatric symptoms. We describe a man in his 50s with a documented diagnosis of HD established several years prior and a strong family history, whose early examinations showed minimal motor findings despite severe psychiatric manifestations including a prior suicide attempt and psychosis. Over subsequent years, serial examinations documented clear motor progression to abnormal gait, weakness and prominent choreiform movements, with intermittent wheelchair use. Bedside cognitive examination during incarceration revealed impaired set-shifting and markedly reduced phonemic and semantic verbal fluency, consistent with the HD cognitive phenotype. Neurology consultation was offered during hospitalisation but declined, and outpatient referral was interrupted by incarceration. During incarceration, severe choreiform movements and impaired insight were documented, with fluctuation in motor severity across settings. This case illustrates the evolution from neuropsychiatric-predominant HD to advanced motor involvement in the context of fragmented continuity of neurologic care, highlighting the importance of longitudinal specialist follow-up in progressive neurodegenerative disease.
BMJ Case Rep
· 2026 Jun · PMID 42336489
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Vanishing bile duct syndrome is a rare complication of classical Hodgkin's lymphoma (cHL) which may present with significant cholestasis and hepatic dysfunction. Management is primarily focused on chemotherapy and sympto...Vanishing bile duct syndrome is a rare complication of classical Hodgkin's lymphoma (cHL) which may present with significant cholestasis and hepatic dysfunction. Management is primarily focused on chemotherapy and symptomatic management of cholestatic liver failure. We describe a case of a man in his 60s with relapsed cHL with significant cholestatic liver injury who was treated with brentuximab vedotin complicated by renal failure. The complex decision-making surrounding chemotherapeutic choice with the presence of multiorgan dysfunction is discussed with a review of literature describing regimens in similar clinical circumstances.
BMJ Case Rep
· 2026 Jun · PMID 42336487
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A man in his 20s presented with fever, night sweats and marked leucocytosis (94×10/L). Cervical lymph node biopsy confirmed peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS). The disease was refractory to br...A man in his 20s presented with fever, night sweats and marked leucocytosis (94×10/L). Cervical lymph node biopsy confirmed peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS). The disease was refractory to brentuximab vedotin plus cyclophosphamide, doxorubicin and prednisone, SMILE and pralatrexate. Subsequently, single-agent gemcitabine (1000 mg/m² on days 1, 8 and 15) induced complete remission, unconfirmed (CRu), after two cycles, enabling reduced-intensity allogeneic haematopoietic stem-cell transplantation from an HLA one-locus-mismatched related donor in the host-versus-graft direction. The patient remains in remission 36 months post-transplant. Throughout the course, serial leucocyte-to-lymphocyte ratio (LLR) measurements appeared to parallel disease activity, with elevation during refractory disease and normalisation in remission. This case suggests that single-agent gemcitabine may provide a feasible low-toxicity bridge to transplantation in selected refractory PTCL-NOS and that serial LLR measurements may represent a simple adjunctive marker of disease dynamics.
BMJ Case Rep
· 2026 Jun · PMID 42336486
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Broad ligament leiomyomas are rare extra-uterine smooth muscle tumours that may present a diagnostic challenge, particularly in patients with a prior hysterectomy where they may closely mimic malignancy. We report a case...Broad ligament leiomyomas are rare extra-uterine smooth muscle tumours that may present a diagnostic challenge, particularly in patients with a prior hysterectomy where they may closely mimic malignancy. We report a case of a woman in her early 60s, with a history of laparotomy and hysterectomy, who presented with abdominal pain and a pelvic mass detected on imaging. Intraoperatively, a large, solid, cystic pelvic mass was identified, adherent to the adjacent pelvic structures and deriving vascular support from the surrounding tissues. The mass was excised and sent for histopathological examination which confirmed the diagnosis of leiomyoma. This case emphasises that, despite their rarity, broad ligament leiomyomas should be considered as a potential cause of pelvic masses in post-hysterectomy patients. Accurate diagnosis requires careful clinicoradiological correlation and intraoperative assessment to prevent misdiagnosing as malignancy, with histopathological examination remaining the gold standard for diagnostic confirmation.
Faia JRCRC, Paiva Santos A, Martins S
… +1 more, Violante Cunha G
BMJ Case Rep
· 2026 Jun · PMID 42336485
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Chronic mesenteric ischaemia (CMI) is a rare but potentially life-threatening condition, often underdiagnosed due to its vague and non-specific symptoms. We describe a patient who presented with progressive unintentional...Chronic mesenteric ischaemia (CMI) is a rare but potentially life-threatening condition, often underdiagnosed due to its vague and non-specific symptoms. We describe a patient who presented with progressive unintentional weight loss, anorexia and postprandial abdominal pain. Despite extensive investigations, no clear diagnosis was established until CT angiography revealed severe calcified stenosis of the coeliac trunk and superior mesenteric artery. The stenoses of two mesenteric vessels limited perfusion during periods of high metabolic demand, causing postprandial tissue ischaemia, which manifested as abdominal pain, reduced oral intake and consequent weight loss. A multidisciplinary approach led to the diagnosis of CMI and surgical revascularisation via iliomesenteric bypass was performed, resulting in complete resolution of symptoms and weight recovery. This case highlights the importance of considering CMI in older patients with unexplained weight loss and cardiovascular risk factors. Early recognition and timely intervention are crucial to prevent irreversible complications and ensure favourable outcomes.