BMJ Case Rep
· 2026 Jun · PMID 42336484
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A woman in her late 20s presented with severe subacute right-sided abdominal pain. Laboratory investigations revealed elevated inflammatory markers and normal serum IgG4 levels. Abdominal and pelvic CT revealed an omenta...A woman in her late 20s presented with severe subacute right-sided abdominal pain. Laboratory investigations revealed elevated inflammatory markers and normal serum IgG4 levels. Abdominal and pelvic CT revealed an omental lesion, with inflammatory stranding along the right paracolic gutter. Colonoscopy revealed an inflamed right colon with no specific lesions. Right colonic and omental biopsies showed inflammatory changes with a prominent plasma cell infiltrate in the omental mass, with IgG4-positive plasma cells on immunohistochemistry (IgG4:IgG ratio 40%-50%), but no storiform fibrosis or venulitis. After considering an extensive differential diagnosis, these findings were most consistent with IgG4-related disease (IgG4-RD). The patient responded to high-dose glucocorticoids but was unable to taper it below 10 mg/day. She received rituximab with complete resolution of symptoms and almost radiographic improvement.Intraperitoneal and omental tumoral manifestations of IgG4-RD are rare.
Kothia D, Valdes O, Mouselli A
… +1 more, Habeb BF
BMJ Case Rep
· 2026 Jun · PMID 42336483
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A Caucasian man in his 20s with no known medical history presented to the emergency department with acute flaccid quadriparesis following a high-carbohydrate meal and strenuous physical activity. Initial evaluation revea...A Caucasian man in his 20s with no known medical history presented to the emergency department with acute flaccid quadriparesis following a high-carbohydrate meal and strenuous physical activity. Initial evaluation revealed profound hypokalaemia (1.7 mmol/L; reference 3.5-5 mmol/L), marked QTc prolongation (594 ms), and mild troponin I elevation (51 ng/L; reference <40 ng/L). He reported two similar episodes over the preceding year that had been attributed to dehydration. Thyroid function testing demonstrated severe hyperthyroidism with suppressed thyroid-stimulating hormone (<0.003 mIU/L; reference 0.4-4 mIU/L), with positive thyroid-stimulating immunoglobulin confirming Graves' disease as the underlying cause. Thyrotoxic periodic paralysis (TPP) was diagnosed. Treatment included cautious potassium replacement, propranolol and antithyroid therapy. Paralysis resolved completely within 24 hours without rebound hyperkalaemia. He remained clinically well without recurrence after achieving euthyroid state. This case highlights the importance of recognising TPP in individuals of any ethnic background and emphasises key management principles to prevent serious complications.
BMJ Case Rep
· 2026 Jun · PMID 42336482
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We report a case of a term neonate who developed massive haematemesis at 15 hours of life without identifiable risk factors. Despite conservative management, the bleeding persisted, resulting in haemorrhagic shock and an...We report a case of a term neonate who developed massive haematemesis at 15 hours of life without identifiable risk factors. Despite conservative management, the bleeding persisted, resulting in haemorrhagic shock and anaemia. Endoscopy was not feasible due to a large intragastric haematoma, so surgical haemostasis was performed, revealing diffuse gastric erosion and multiple bleeding ulcers and the neonate recovered well postoperatively. This report shows that life-threatening bleeding can occur even in term neonates without identifiable risk factors. In cases of ongoing massive bleeding in which conservative and endoscopic management are unsuccessful or not feasible, surgical haemostasis may need to be considered.
Aubry L, Badoux T, Reygaerts T
… +1 more, Grandmaison G
BMJ Case Rep
· 2026 Jun · PMID 42336481
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Isaacs syndrome (IS) is a rare peripheral nerve hyperexcitability disorder, often associated with an underlying disease. We report a clinical case which appears to be a previously unreported co-occurrence of IS and syste...Isaacs syndrome (IS) is a rare peripheral nerve hyperexcitability disorder, often associated with an underlying disease. We report a clinical case which appears to be a previously unreported co-occurrence of IS and systemic polyarteritis nodosa, diagnosed in a young woman presenting with subacute back pain, weight loss, fasciculations, diaphoresis, tachycardia, micturition disorder, constipation, cutaneous lesions and mesenteric vasculitis on MRI. The patient achieved clinical remission following treatment with intravenous cyclophosphamide and corticosteroids.
BMJ Case Rep
· 2026 Jun · PMID 42320955
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Juvenile autoimmune myasthenia gravis (JAMG) is uncommon in children and extremely rare in infants. The condition is frequently recognised late since it mimics congenital and neuromuscular disorders. We report a case of...Juvenile autoimmune myasthenia gravis (JAMG) is uncommon in children and extremely rare in infants. The condition is frequently recognised late since it mimics congenital and neuromuscular disorders. We report a case of a toddler presenting with fluctuating bilateral ptosis that worsened in the evening. The bedside ice pack test was positive, and serum acetylcholine receptor antibodies confirmed the diagnosis. A chest CT scan revealed no abnormalities in the thymus. The child showed a good response to anticholinesterase treatment. This case emphasises the significance of recognising fatigable ptosis and employing simple bedside assessments for the early diagnosis of juvenile autoimmune myasthenia gravis.
BMJ Case Rep
· 2026 Jun · PMID 42320954
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Macular telangiectasia (MacTel) is characterised by perifoveal capillary abnormalities, which can progress to retinal layer loss and cavitation-like changes. Though it occurs predominantly in isolation, a genetic associa...Macular telangiectasia (MacTel) is characterised by perifoveal capillary abnormalities, which can progress to retinal layer loss and cavitation-like changes. Though it occurs predominantly in isolation, a genetic association of MacTel has been noted. Our report aims to demonstrate one such association causing an alteration in serine metabolism leading to neuropathy and maculopathy secondary to Muller cell degeneration.
BMJ Case Rep
· 2026 Jun · PMID 42320953
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Pulmonary actinomycosis is a rare cause of granulomatous and suppurative lung disease that often presents with non-specific symptoms leading to misdiagnosis or delayed diagnosis. Complications include sepsis, infective e...Pulmonary actinomycosis is a rare cause of granulomatous and suppurative lung disease that often presents with non-specific symptoms leading to misdiagnosis or delayed diagnosis. Complications include sepsis, infective endocarditis and rarely empyema necessitans. In our report, we present a case of a gentleman in his late 50s, with poor oral hygiene and a number of other risk factors who presented with severe weight loss and an expanding chest wall mass. Following a thorough physical examination and biochemical, radiological and microbiological investigations, the patient was diagnosed with an empyema necessitans secondary to pulmonary actinomycosis. The patient was eventually treated successfully with a prolonged course of antibiotics and did not require surgical intervention. Pulmonary actinomycosis has decreased drastically in incidence and the presence of such severe clinical presentations have become even rarer, thanks to the early introduction of antimicrobial agents.
Hiraoka E, Murakami Y, Obunai K
… +1 more, Suzuki T
BMJ Case Rep
· 2026 Jun · PMID 42320952
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A middle-aged woman with complex congenital heart disease (CHD) and stage D heart failure-including a double outlet univentricular heart-faced difficulty accessing a specialised centre due to dyspnoea, frailty and geogra...A middle-aged woman with complex congenital heart disease (CHD) and stage D heart failure-including a double outlet univentricular heart-faced difficulty accessing a specialised centre due to dyspnoea, frailty and geographic distance. Despite attempting to seek care at local hospitals and clinics, she was turned away due to the absence of specialists in adult CHD (ACHD). Over time, our local tertiary care hospital, though lacking the expertise to care for her ACHD initially, coordinated a gradual transition of care from the ACHD centre to our facility by overlapping services and addressing both her medical and psychological needs. Ultimately, the care transition was successful. This case highlights the urgent need to establish integrated, community-based care models for adults with complex CHD, incorporating local hospitals, primary care providers, home health services and a structured consultation pathway with ACHD specialists. Without such systems, frail patients in advanced stages of CHD with severe complexity may be left without access to appropriate care.
Reddy JK, Nair JN, Palanisamy T
… +1 more, Krishnaswamy V
BMJ Case Rep
· 2026 Jun · PMID 42320951
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Acute visual loss following transsphenoidal pituitary surgery is rare but potentially reversible if promptly identified and treated. Migration of fat graft into the sella is an infrequently recognised but treatable cause...Acute visual loss following transsphenoidal pituitary surgery is rare but potentially reversible if promptly identified and treated. Migration of fat graft into the sella is an infrequently recognised but treatable cause. A woman in her early 60s presented with pituitary acromegaly and underwent endoscopic endonasal transsphenoidal surgery for a pituitary macroadenoma. Postoperatively, she developed sudden bilateral visual loss. MRI revealed optic chiasm compression by migrated fat graft used for sellar reconstruction. Emergency re-exploration and decompression led to complete restoration of vision. Fat graft migration can cause chiasmal compression and sudden painless vision loss after pituitary surgery. Immediate imaging and decompression are critical for visual recovery.
BMJ Case Rep
· 2026 Jun · PMID 42320950
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A man in his early 70s presented with septic shock and severe ARDS, likely after aerosolising Initial empirical treatment for community-acquired pneumonia with ceftriaxone failed, resulting in clinical deterioration wit...A man in his early 70s presented with septic shock and severe ARDS, likely after aerosolising Initial empirical treatment for community-acquired pneumonia with ceftriaxone failed, resulting in clinical deterioration with stage 3 acute kidney injury requiring dialysis and necrotising pneumonia. After pneumonic tularaemia was identified, antimicrobial therapy was transitioned to renally dosed levofloxacin, along with aggressive ICU support including prone positioning and tube thoracostomy. The patient ultimately made a full recovery, returning to his functional baseline one month after discharge.This case underscores the importance of eliciting environmental exposures in patients with severe, culture-negative pneumonia unresponsive to beta-lactams, as this should prompt consideration of inhalational tularaemia. It also highlights how pathogen-induced cytokine storm can drive catastrophic multiorgan failure and supports fluoroquinolones as a safe and effective first-line alternative to aminoglycosides in the setting of renal failure.
BMJ Case Rep
· 2026 Jun · PMID 42320948
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We describe a case of isolated orbital Rosai-Dorfman disease. Diagnostic uncertainty meant that two biopsies were required to exclude orbital lymphoma and immunoglobulin G4 (IgG4)-related disease. In accordance with hist...We describe a case of isolated orbital Rosai-Dorfman disease. Diagnostic uncertainty meant that two biopsies were required to exclude orbital lymphoma and immunoglobulin G4 (IgG4)-related disease. In accordance with histopathological guidelines, we present salient IgG4 parameters. Initial treatment involved oral corticosteroids and an excisional biopsy which led to resolution of symptoms; however, recurrence occurred 4 months later. Avoiding further surgery and in line with the patient's preference, an intralesional corticosteroid injection was performed. The patient remains symptom-free after 4 years. This case and other cases reviewed here support the consideration for the early use of intralesional corticosteroids, a strategy which may avoid more toxic and resource intensive systemic treatments such as chemotherapy or immunomodulatory therapy.
Rai DK, Sharma P, Talwar D
… +2 more, Singh N, Pal S
BMJ Case Rep
· 2026 Jun · PMID 42320947
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We report the case of a man in his 30s who presented with exertional dyspnoea and dry cough for 18 months, along with fever and generalised lymphadenopathy (cervical and axillary) for 3 months. He had no feature indicati...We report the case of a man in his 30s who presented with exertional dyspnoea and dry cough for 18 months, along with fever and generalised lymphadenopathy (cervical and axillary) for 3 months. He had no feature indicating a connective tissue disorder. High-resolution CT of the chest revealed bilateral and diffuse thin-walled cysts with multiple mediastinal lymph nodes, consistent with a cystic interstitial lung disease. His pulmonary function test showed a severe restrictive disease and an autoimmune workup revealed strong positivity for anti-SSA/Ro52. Minor salivary gland biopsy showed lymphocytic foci with a focus score of >1. Based on the 2016 American College of Rheumatology-European Alliance of Associations for Rheumatology (ACR-EULAR) classification, the patients' diagnosis of Primary Sjögren's was confirmed. A transbronchial lung biopsy on histopathology showed diffuse polyclonal lymphoplasmacytic interstitial infiltration with germinal centre formation, consistent with lymphocytic interstitial pneumonia. In view of the extensive lymphadenopathy, lymphoma was systematically ruled out through lymph node excision, bone marrow examination and serum electrophoresis, all of which supported a benign reactive process. The patient was diagnosed with lymphocytic interstitial pneumonia and pseudolymphomatous lymphadenopathy as the initial manifestation of primary Sjögren's syndrome and showed clinical stability following treatment with systemic corticosteroids and mycophenolate mofetil.
Kamble MM, Swain N, Pathak J
… +1 more, Nalband MR
BMJ Case Rep
· 2026 Jun · PMID 42320946
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Alveolar soft part sarcoma (ASPS) is a rare malignant tumour that is considered to lack a normal cell counterpart and is commonly associated with a poorer prognosis. Etio-pathologically, it has been associated with alveo...Alveolar soft part sarcoma (ASPS) is a rare malignant tumour that is considered to lack a normal cell counterpart and is commonly associated with a poorer prognosis. Etio-pathologically, it has been associated with alveolar soft part sarcoma critical region-1-transcription factor for immunoglobulin heavy chain enhancer 3 fusion gene. Diagnosis is usually confirmed through histopathology, immunohistochemistry (IHC) and molecular testing. Being chemo-resistant, surgical excision with clear margins is the primary treatment, with radiation therapy considered adjuvant in advanced cases. Deceptively slow growth and potential metastatic potential make its diagnosis, treatment and prognosis challenging for clinicians. We report a case of ASPS in the left buccal mucosa of a young child who was mistaken for a dental infection by a local dentist. Later on, confirmation with histopathology and IHC, the patient underwent complete excision with hemi-mandibulectomy followed by adjuvant radiation therapy. This case emphasises the diagnostic and therapeutic approach for ASPS in the buccal mucosa of a young child.
BMJ Case Rep
· 2026 Jun · PMID 42320944
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A female toddler clinically diagnosed with hand, foot and mouth disease (HFMD) was referred by the treating paediatrician, with acute-onset painless diminution of vision for 3 days. She had papulomacular skin rashes and...A female toddler clinically diagnosed with hand, foot and mouth disease (HFMD) was referred by the treating paediatrician, with acute-onset painless diminution of vision for 3 days. She had papulomacular skin rashes and was unable to follow the light stimulus at presentation. On fundus evaluation, bilateral asymmetrical (left eye more severe than the right eye) multifocal full-thickness necrotising retinitis, occlusive haemorrhagic retinal vasculitis, optic disc pallor and left eye exudative retinal detachment (eRD) were noted. Due to the background of HFMD and unexpected prompt response of intravitreal and systemic corticosteroids, a preliminary diagnosis of bilateral presumed enterovirus-associated retinopathy was established. The patient showed a favourable response to a weekly taper of oral steroids for the next 3 months. The retinitis, vasculitis and eRD were resolved with widespread retinal pigment epithelium (RPE) atrophy.HFMD with retinopathy secondary to presumed enterovirus infection, though rare, can present with extensive RPE and optic disc atrophy despite administration of oral corticosteroids.
BMJ Case Rep
· 2026 Jun · PMID 42320943
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This report details a case of a patient in his 60s who exhibited ataxic gait, frequent falls, limb incoordination, tremors and rigidity, leading to a diagnosis of progressive supranuclear palsy with cerebellar predominan...This report details a case of a patient in his 60s who exhibited ataxic gait, frequent falls, limb incoordination, tremors and rigidity, leading to a diagnosis of progressive supranuclear palsy with cerebellar predominance (PSP-C). Clinical assessment indicated slurred speech, increased muscle tone, deep tendon reflexes that were mildly reduced asymmetrically on the left side and reduced strength, while sensations remained intact. PSP-C is an uncommon variant of PSP often misidentified as multiple system atrophy-cerebellar type (MSA-C) because of shared characteristics. The patient participated in a comprehensive physiotherapy programme that included transfer training and promotion of independence in activities of daily living while also targeting rigidity and tremors. This case illustrates the diagnostic difficulties associated with addressing motor impairments, fall prevention and improving quality of life in a condition with few treatment alternatives.
BMJ Case Rep
· 2026 Jun · PMID 42320942
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We report a case of a woman in her 60s who initially presented with typical symptoms of multiple myeloma, including fatigue, muscle cramps, lower back pain, hypercalcaemia, renal impairment and anaemia. Laboratory testin...We report a case of a woman in her 60s who initially presented with typical symptoms of multiple myeloma, including fatigue, muscle cramps, lower back pain, hypercalcaemia, renal impairment and anaemia. Laboratory testing revealed elevated free light chains and M protein bands. Treatment was initiated for a working diagnosis of multiple myeloma. However, bone marrow assessment did not find plasma cells, instead revealing that the malignant clonal cells were of B-cell origin. Treatment was subsequently changed to a chemotherapy regimen for diffuse large B-cell lymphoma. After a suboptimal response, the patient received further treatment with a new regimen, resulting in a good response with no signs of active disease. Over 1 year after completing treatment, the patient remains well.
BMJ Case Rep
· 2026 Jun · PMID 42320941
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Pentobarbitone is a short-acting barbiturate central nervous system depressant used primarily for veterinary anaesthesia and euthanasia. Pentobarbitone has recognised clinical uses, including in anaesthesia and managemen...Pentobarbitone is a short-acting barbiturate central nervous system depressant used primarily for veterinary anaesthesia and euthanasia. Pentobarbitone has recognised clinical uses, including in anaesthesia and management of refractory seizures but may also be encountered in cases of intentional overdose. This report presents the case of a patient who ingested pentobarbitone and required mechanical ventilation for 6 days. Pentobarbitone and a barbiturate test kit were later found in the patient's home. Blood analysis revealed pentobarbitone concentrations of 91, 56 and 19 mg/L at 11, 59 and 107 hours post-ingestion, respectively. Following intensive supportive care, the patient made a full recovery. The case describes coma, respiratory failure and barbiturate-associated skin and vascular complications, with diagnosis delayed due to the agent's absence from standard hospital drug screens. As pentobarbitone may not cross-react with common phenobarbitone assays, rapid access to comprehensive toxicological analysis is critical for identifying uncommon toxicities and guiding timely clinical and public health responses. This case highlights that pentobarbitone toxicity may mimic severe neurological injury and may not be detected on routine hospital toxicology screening.
Murtagh P, Gatchalian L, Hussain R
… +1 more, Heimann H
BMJ Case Rep
· 2026 Jun · PMID 42320940
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We report a rare case of isolated choroidal inflammation in a patient with a history of treated choroidal melanoma who subsequently developed cutaneous melanoma and underwent adjuvant treatment with pembrolizumab. The pa...We report a rare case of isolated choroidal inflammation in a patient with a history of treated choroidal melanoma who subsequently developed cutaneous melanoma and underwent adjuvant treatment with pembrolizumab. The patient presented with a new choroidal lesion adjacent to the treated choroidal melanoma. Differential diagnosis included recurrence of choroidal melanoma, metastases from the cutaneous melanoma or pembrolizumab-associated choroidal inflammation. Ultrasound findings suggested an inflammatory aetiology and the patient was treated with an intravitreal dexamethasone implant. One month later, the lesion had regressed and visual acuity improved. Pembrolizumab, an immune checkpoint inhibitor, can cause ocular immune-related adverse effects, including choroidal inflammation. This case underscores the importance of distinguishing between inflammatory and metastatic lesions, particularly in patients with a history of ocular malignancy. Early recognition and appropriate treatment with steroids can prevent irreversible vision loss and multimodal imaging is crucial in such cases.