BMJ Case Rep
· 2026 Jul · PMID 42386335
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Odontogenic infections are commonly considered a cause of Ludwig's angina; their progression to necrotising fasciitis (NF) is rare and often associated with significant morbidity and mortality. We report a case of a prev...Odontogenic infections are commonly considered a cause of Ludwig's angina; their progression to necrotising fasciitis (NF) is rare and often associated with significant morbidity and mortality. We report a case of a previously healthy patient in his 20s, a heavy smoker, who developed extensive cervicothoracic NF after wisdom tooth extraction. He initially presented with neck swelling and pain, with stable vital signs and no airway compromise. Within 24 hours, he deteriorated abruptly with respiratory distress and septic shock. CT showed widespread fascial involvement with emphysema tracking into the mediastinum and bilateral pleural effusion. His Laboratory Risk Indicator for Necrotising Fasciitis score was 7, indicating high risk. He required emergent, extensive, repeated debridement, chest drainage and later thoracoscopy. Cultures predominantly grew Despite multiple complications, he fully recovered. This case shows that NF can occur even in young, healthy patients, underscoring the importance of early recognition and aggressive management.
A late 60s man presented with a 1-week history of recurrent transient monocular visual loss in his left eye, followed by sudden, severe visual loss and eyelid pain. Examination revealed a left relative afferent pupillary...A late 60s man presented with a 1-week history of recurrent transient monocular visual loss in his left eye, followed by sudden, severe visual loss and eyelid pain. Examination revealed a left relative afferent pupillary defect and segmental chalky-white oedema of the superior half of the optic disc. During admission, he experienced repeated episodes of no light perception in the left eye. A systematic review revealed jaw claudication, low-grade fever and scalp tenderness. Inflammatory markers were elevated and temporal artery ultrasound showed vessel wall thickening and stenosis. Extensive work-up for embolic and inflammatory causes of transient visual loss, including carotid Doppler, echocardiography, brain and vascular MRI and serology for myelin oligodendrocyte glycoprotein and AQP4 antibodies, was unremarkable. Temporal artery biopsy confirmed giant cell arteritis. Intravenous methylprednisolone 1 g/day for 3 days, followed by high-dose oral prednisolone, led to substantial visual recovery, with best-corrected acuity improving to 20/63. This case highlights that even severe, evolving visual loss with segmental chalky disc oedema in giant cell arteritis may be partially reversible if recognised promptly and treated emergently.
Lead encephalopathy is a rare but life-threatening neurotoxic emergency in children. Although rare, lead encephalopathy can mimic infectious encephalitis leading to delay in diagnosis and management in resource-limited s...Lead encephalopathy is a rare but life-threatening neurotoxic emergency in children. Although rare, lead encephalopathy can mimic infectious encephalitis leading to delay in diagnosis and management in resource-limited settings. A toddler belonging to poor socioeconomic strata presented with non-bilious vomiting for 6 days, intermittent fever for 3 days, seizures and rapidly deteriorating neurological status a few hours prior to arrival in triage. A thorough history later found the child's visits to a battery recycling unit. Blood lead levels (BLL) were 88.1 mcg/dL. Chelation therapy with intramuscular dimercaprol (British anti-Lewisite) along with calcium disodium EDTA was administered via intramuscular injection for 5 days but the child deteriorated due to severe brain herniation, resulting in demise. In cases of unexplained encephalopathy in children (after ruling out infectious causes) along with the presence of environmental and occupational risk factors with biochemical support, lead toxicity must be considered early. Early targeted history taking and chelation are essential to prevent irreversible damage.
Penetrating neck injuries are uncommon but carry high mortality due to the proximity of major vessels and the aerodigestive tract. We report a woman in her 80s who presented with a 40-cm flat-head screwdriver impaled in...Penetrating neck injuries are uncommon but carry high mortality due to the proximity of major vessels and the aerodigestive tract. We report a woman in her 80s who presented with a 40-cm flat-head screwdriver impaled in the right lower neck at the thoracic inlet. Computed tomographic angiography (CTA) demonstrated a distal thoracic aortic arch pseudoaneurysm with mediastinal haemorrhage. Although initially haemodynamically stable, she developed airway compromise and underwent emergent open tracheostomy in a hybrid operating room. Thoracic endovascular aortic repair excluded the pseudoaneurysm and achieved hemorrhage control, after which the screwdriver was removed under controlled conditions. Her postoperative course was notable for transient atrial fibrillation and a duodenal bulb ulcer bleed, both managed appropriately. She was discharged home on postoperative day 19. Early airway control, endovascular hemorrhage control before extraction and multidisciplinary hybrid-operating room (OR) capability were key to survival.
Ehrlichiosis is a rare tick-borne zoonosis caused by , and related species. In solid organ transplant recipients, immunosuppression can result in atypical presentations, delayed diagnosis and poor outcomes. The disease...Ehrlichiosis is a rare tick-borne zoonosis caused by , and related species. In solid organ transplant recipients, immunosuppression can result in atypical presentations, delayed diagnosis and poor outcomes. The disease remains under-recognised among lung transplant recipients despite its potentially fatal course. A man in his early 70s with a history of bilateral lung transplantation for chronic obstructive pulmonary disease presented with a high-grade fever and shortness of breath. Bronchoalveolar lavage (BAL) culture grew and meropenem was initiated. He subsequently developed severe thrombocytopenia, acute kidney injury and elevated liver transaminases. Disseminated intravascular coagulation (DIC) and thrombotic thrombocytopenic purpura (TTP) were excluded, while haemophagocytic lymphohistiocytosis (HLH) was considered but not confirmed. His condition rapidly progressed to multiorgan failure requiring mechanical ventilation and haemodialysis. was identified postmortem by next-generation sequencing. This case highlights diagnostic challenges and the importance of early empiric doxycycline therapy in endemic areas.
A man in his 60s with metastatic Merkel cell carcinoma was treated with avelumab. After 8 months, he achieved complete resolution of cutaneous lesions. At 13.5 months, he developed erythematous chest papules with biopsy-...A man in his 60s with metastatic Merkel cell carcinoma was treated with avelumab. After 8 months, he achieved complete resolution of cutaneous lesions. At 13.5 months, he developed erythematous chest papules with biopsy-proven non-necrotising granulomas. Imaging revealed bilateral hilar and mediastinal lymphadenopathy, and serum calcium was elevated at 3.02 mmol/L. This is consistent with a sarcoid-like reaction to avelumab. High-dose prednisolone resolved sarcoid lesions and normalised calcium. However, avelumab rechallenge triggered recurrent hypercalcaemia and renal deterioration, raising concern for immunotherapy-related sarcoid nephritis. Avelumab was permanently discontinued after 2 years, and the sarcoid-like reaction remained inactive thereafter.
BMJ Case Rep
· 2026 Jun · PMID 42379657
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We present two cases with glaucoma who presented with blurred vision or metamorphopsia; the common feature was the ongoing medication with prostaglandin analogue latanoprost and neither patient received systemic corticos...We present two cases with glaucoma who presented with blurred vision or metamorphopsia; the common feature was the ongoing medication with prostaglandin analogue latanoprost and neither patient received systemic corticosteroids or reported stress. Fundus image, optical coherence tomography and angiography confirmed presence of subretinal fluid and diagnosis of central serous chorioretinopathy (CSCR). These cases resolved on withdrawing the offending drug latanoprost, and when the drug was reintroduced for better intraocular pressure management, the serous detachment recurred. We analyse these cases for the role of proinflammatory and haemodynamic effects of prostaglandin analogues (PGA) on initiating CSCR. A review of other similar cases reported earlier is included. The key learning point is to consider potential association of this group of drugs with CSCR, when other risk factors have been excluded.
BMJ Case Rep
· 2026 Jun · PMID 42373205
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A male combat veteran in his late 40s presented with debilitating chronic neck pain, involuntary cervical muscle spasms, rightward head tilt and headaches occurring more than 15 days per month after cumulative cervical t...A male combat veteran in his late 40s presented with debilitating chronic neck pain, involuntary cervical muscle spasms, rightward head tilt and headaches occurring more than 15 days per month after cumulative cervical trauma from blast exposures and over 350 parachute jumps. He was diagnosed with post-traumatic cervical dystonia and treated with onabotulinumtoxinA injections to the procerus, bilateral corrugator, frontalis, temporalis, occipitalis, cervical paraspinal and upper and lower trapezius muscles. Ninety days after the first injection cycle he reported 85%-90% improvement in pain, spasms and headache frequency, with sustained 90% improvement across treatments. He experienced over 100 fewer headache hours and seven fewer headache days per month compared with baseline. Mild symptom recurrence during the final week of his 90-day interval led to adjustment to a 12-week schedule, resulting in improved consistency of relief. Botulinum toxin type A therapy provided substantial and consistent improvement in this case of post-traumatic cervical dystonia.
BMJ Case Rep
· 2026 Jun · PMID 42373204
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Light-chain-mediated acute tubulointerstitial nephritis (LC-ATIN) is an uncommon, under-recognised lesion within the spectrum of monoclonal gammopathy of renal significance (MGRS). It typically presents with acute kidney...Light-chain-mediated acute tubulointerstitial nephritis (LC-ATIN) is an uncommon, under-recognised lesion within the spectrum of monoclonal gammopathy of renal significance (MGRS). It typically presents with acute kidney injury (AKI), minimal proteinuria and nonspecific symptoms, complicating diagnosis and risking progression to end-stage kidney disease. We report a man in his early 40s with unexplained AKI whose diagnosis was established after kidney biopsy demonstrating kappa-restricted tubular basement membrane deposits on immunofluorescence and electron microscopy. Bone marrow evaluation identified a small kappa-restricted plasma cell clone, confirming MGRS. He received clone-directed therapy followed by autologous stem cell transplantation (ASCT) to deepen haematological response and preserve renal function. Although ASCT may improve response depth in related MGRS entities, its benefit in LC-ATIN remains unproven. This case highlights the importance of serum free light chain testing, early biopsy and timely clone-directed therapy in unexplained AKI, including in younger patients.
BMJ Case Rep
· 2026 Jun · PMID 42373203
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A male in his 50s initially presented with left ventricular hypertrophy (LVH) identified on transthoracic echocardiogram. He was diagnosed with hypertrophic cardiomyopathy without any further investigations. He later pre...A male in his 50s initially presented with left ventricular hypertrophy (LVH) identified on transthoracic echocardiogram. He was diagnosed with hypertrophic cardiomyopathy without any further investigations. He later presented in his 70s with decompensated heart failure. A cardiac MRI was performed that demonstrated extensive scarring, and the patient was labelled with a presumptive diagnosis of cardiac amyloidosis. An endomyocardial biopsy demonstrated extensive myocyte hypertrophy and fibrosis but was non-diagnostic in identifying a cause of the LVH. Genetic testing revealed that the patient had a genetic variant in the gene, which encodes for the α-galactosidase A enzyme that is known to be associated with adult onset of Fabry disease. This case highlights the importance of early incorporation of genetic screening and advanced imaging modalities in patients presenting with LVH.
Bahadur A, Kamat D, Panwar VK
… +1 more, Chauhan U
BMJ Case Rep
· 2026 Jun · PMID 42373202
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Pelvic desmoid fibromatosis is a rare locally aggressive benign neoplasm, typically presenting in the reproductive age group with lower abdominal pain. Extra-abdominal occurrence being predominant, the pelvic origin of t...Pelvic desmoid fibromatosis is a rare locally aggressive benign neoplasm, typically presenting in the reproductive age group with lower abdominal pain. Extra-abdominal occurrence being predominant, the pelvic origin of the tumour makes the clinical management a multidisciplinary challenge. Previous surgeries, current or previous pregnancies, and familial adenomatous polyposis have been documented as associated risk factors. Our patient was a young woman with three previous caesarean sections, admitted with a large infiltrative lesion extending into the left pelvic sidewall up to the pelvic bone, causing ipsilateral severe hydroureteronephrosis. Malignancy was suspected due to the infiltrating nature of the lesion on imaging. Due to its proximity to the pelvic veins, preoperative embolisation of the feeding vessel was done. An exploratory laparotomy was performed by a multidisciplinary team. For this deep-seated disease, mass excision was performed along with total hysterectomy, left salpingo-oophorectomy and left ureteroneocystostomy. A part of the lesion infiltrating the presacral fascia was not removed during the primary surgery. Within 24 hours of surgery, she developed critical limb ischaemia in the left limb due to thrombosis in the ipsilateral external iliac artery. An emergency thrombo-embolectomy was performed by the vascular surgeons and thromboprophylaxis continued. Final histopathology confirmed desmoid fibromatosis. For the residual disease, the patient has been under close follow-up and is receiving targeted therapy with oral sorafenib to prevent local progression. Her follow-up imaging showed a decrease in the size of the residual disease and she is asymptomatic currently.
BMJ Case Rep
· 2026 Jun · PMID 42373201
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Lynch syndrome, an autosomal dominant disorder caused by defective DNA mismatch repair genes, is linked to early-onset colorectal, ovarian, gastric, urinary tract and, less commonly, small bowel, biliary and pancreatic c...Lynch syndrome, an autosomal dominant disorder caused by defective DNA mismatch repair genes, is linked to early-onset colorectal, ovarian, gastric, urinary tract and, less commonly, small bowel, biliary and pancreatic cancers. We present a case of a man in his late 50s who presented with obstructive jaundice due to a biliary hilar mass with a history of urothelial malignancy requiring surgical intervention. Family history revealed colon cancer in mother and brother both below the age of 50 years. He underwent curative resection and reconstruction. Histopathology confirmed hilar cholangiocarcinoma. Due to suspicion of Lynch syndrome, microsatellite instability and mismatch repair gene mutation testing were performed, which confirmed loss of nuclear expression of MSH2/MSH6, hence confirming the diagnosis of Lynch syndrome. This enabled the decision to treat with immunotherapy for recurrence and also conduct family screening. In spite of the absence of colonic tumours, Lynch syndrome should be suspected in young patients with multiple tumours, particularly when supported by a relevant family history.
BMJ Case Rep
· 2026 Jun · PMID 42373200
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Cystic fibrosis (CF) is traditionally regarded as a paediatric disorder, with over 75% of cases diagnosed before the age of 2 years. We describe the case of CF diagnosed in a man in his 70s following investigations promp...Cystic fibrosis (CF) is traditionally regarded as a paediatric disorder, with over 75% of cases diagnosed before the age of 2 years. We describe the case of CF diagnosed in a man in his 70s following investigations prompted by an incidental finding of a pulmonary nodule and bronchiectasis on imaging. Further multidisciplinary assessment raised the possibility of CF. The diagnosis was confirmed through elevated sweat chloride levels and CFTR genotyping identifying compound heterozygosity for and This case serves as a timely reminder, particularly for clinicians outside specialist CF services, to consider CF when the constellation of features is suggestive, irrespective of age. It highlights that practice around CF screening in adults with bronchiectasis varies between centres and invites reflection on whether more standardised approaches might help reduce diagnostic delay. For specialist readers, the case further underscores that genotype-phenotype correlations in CF do not always align with expected clinical patterns.
Killedar R, Wakde G, Andhare N
… +3 more, Lalwani S, Patvardhan N, Patil EPN
BMJ Case Rep
· 2026 Jun · PMID 42373199
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This case report details the rehabilitation of a male child in early teenage who developed complete left lower lobe collapse following surgical excision of a large mediastinal teratoma. The patient came with recurrent ch...This case report details the rehabilitation of a male child in early teenage who developed complete left lower lobe collapse following surgical excision of a large mediastinal teratoma. The patient came with recurrent chest infections with severe bronchomalacia and other significant post-operative pulmonary complications. A comprehensive rehabilitation programme for 90 days was designed, with emphasis on integration of virtual reality (VR) exercises to promote lung expansion and improve overall fitness and quality of life. This led to marked radiological and clinical improvements which avoided the need for a repeat invasive bronchoscopy. This report highlights the potential of VR as a powerful modality in pulmonary rehabilitation for post-surgical lung collapse.
BMJ Case Rep
· 2026 Jun · PMID 42362348
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We report a man in his 40s with progressive interstitial lung disease following long-term occupational exposure to industrial waste dust. Despite corticosteroid therapy, his respiratory condition deteriorated, with acute...We report a man in his 40s with progressive interstitial lung disease following long-term occupational exposure to industrial waste dust. Despite corticosteroid therapy, his respiratory condition deteriorated, with acute exacerbation requiring repeated high-dose steroid pulse therapy and additional immunosuppressive treatment. He subsequently underwent bilateral living-donor lung transplantation. Histopathological examination of the explanted lungs demonstrated unclassifiable interstitial pneumonia characterised by fibrotic non-specific interstitial pneumonia-like changes, surfactant accumulation and pleuroparenchymal fibroelastosis. Elemental analysis using wavelength-dispersive electron probe microanalysis revealed a wide range of inorganic elements, including aluminium, iron, silicon, nickel, manganese, cobalt and rare earth elements such as cerium and lanthanum. These findings strongly suggest that chronic inhalation of heterogeneous occupational particulates contributed to disease pathogenesis. The patient remains clinically stable 4 years after transplantation, with good functional recovery.
BMJ Case Rep
· 2026 Jun · PMID 42362347
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Laser burn maculopathy caused by handheld laser devices is on the rise with their widespread use as recreational devices. The paediatric group is particularly vulnerable due to universal accessibility, intentional/uninte...Laser burn maculopathy caused by handheld laser devices is on the rise with their widespread use as recreational devices. The paediatric group is particularly vulnerable due to universal accessibility, intentional/unintentional exposure to it, and the incidence of ocular injuries is proportionately increasing. We report a rare incidence of self-inflicted injury to both eyes after intentional exposure to a handheld laser beam in a young teen. Initially, the patient had been diagnosed with heredomacular dystrophy due to the bilateral presentation of maculopathy and was referred for further worsening of vision. Multimodal imaging revealed the presence of a choroidal neovascular membrane in both eyes; prompt anti-vascular endothelial growth factor treatment resolved the lesions, substantially improving vision. The rarity, misdiagnosis, late presentation, use of multimodal imaging for correct diagnosis and treatment outcomes are highlighted in the present case.
Elsirag MEEM, Hbib Allaha EH, Elfaki MSFSF
… +5 more, Mahjub ALSA, Khiralla M, Dafaallah AI, Hagelamin EE, Nasraldeen N
BMJ Case Rep
· 2026 Jun · PMID 42362346
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Mycetoma is an uncommon, chronic, granulomatous infectious condition that affects the skin, dermis and subcutaneous tissues. It is prevalent in tropical and subtropical areas. The patient presented to our hospital with a...Mycetoma is an uncommon, chronic, granulomatous infectious condition that affects the skin, dermis and subcutaneous tissues. It is prevalent in tropical and subtropical areas. The patient presented to our hospital with a left foot lesion that he first noticed 2 years ago. The lesion consisted of multiple pits discharging black granules and pus. Culture revealed that the grains comprise a mass of fungal hyphae organised within a deeply eosinophilic amorphous matrix (Splendore-Hoeppli material). The patient received multidrug therapy, radical excision of mycetoma and a skin graft. He responded well to treatment. Because the diseases progress slowly, most patients are often diagnosed at a later stage. Therefore, focusing on health education and the significance of wearing footwear is essential.