BMJ Case Reports最新文献

We report the case of a male patient in his 30s with newly diagnosed multiple sclerosis who initially responded well to high-dose corticosteroids and was started on ofatumumab as disease-modifying therapy. Baseline laboratory investigations, viral screening and autoantibody testing were normal. Within days of the first injection, he developed jaundice, abdominal pain and gastrointestinal symptoms. Laboratory studies revealed severe hepatocellular injury with hyperbilirubinaemia, coagulopathy, elevated pancreatic enzymes and positive anti-smooth muscle antibodies, consistent with autoimmune hepatitis. Imaging demonstrated gallstone disease, which later progressed to acute calculous cholecystitis and severe necrotising pancreatitis. Ofatumumab was discontinued and corticosteroids with supportive therapy were administered. His liver function gradually normalised, and his gastrointestinal symptoms resolved. Neurological follow-up showed no residual deficits, with radiological stability. This case represents, to our knowledge, the first reported case of ofatumumab-associated autoimmune hepatitis complicated by necrotising pancreatitis, highlighting the importance of vigilance and multidisciplinary care when initiating B-cell-depleting therapy.

We report the case of a male in his late teens who presented to our emergency department with acute generalised tonic-clonic seizures. Neurological examination, neuroimaging and laboratory tests confirmed severe hypocalcaemia, secondary to hypoparathyroidism, as the cause of his seizures. A detailed history was significant for recurrent urinary tract infections and epilepsy, accompanied by impaired academic performance and an intracardiac repair 8 years prior to presentation for a congenital cyanotic heart disease. Dysmorphic features on clinical examination, accompanied by the chronicity of complaints, led us to consider a genetic syndrome. On genomic microarray analysis (GMA), a 22q11.21 deletion was detected. The present case aims to highlight how commonly encountered laboratory findings, such as hypocalcaemia, can facilitate the identification of genetic associations like 22q11.2 deletion syndrome (22q11.2DS), a rare diagnosis in adulthood. In many cases, clinical problems may be managed in isolation without triggering a unifying diagnosis.

An immunocompromised patient presented with acute-on-chronic back pain following minor trauma. The pain was accompanied by worsening right-sided weakness, paraesthesias, progressive gait impairment and hyperreflexia concerning for compressive myelopathy. The patient's spouse also reported months of increasing forgetfulness. Imaging revealed a thoracic arachnoid cyst, which was treated by fenestration and resection of the cyst via laminoplasty. At the time of surgery, the thickened cyst wall was sent off for pathological evaluation. Postoperatively, pathology identified yeast consistent with cryptococcus; a subsequent lumbar puncture confirmed the diagnosis. Aside from mild cognitive impairment and a transient episode of delirium, the patient had no prior cognitive nor cranial nerve deficits. This case highlights the importance of considering subacute, low-grade infection in the differential diagnosis of de novo arachnoid cysts in immunocompromised patients.

Brucellosis is a zoonotic disease that frequently involves the musculoskeletal, reticuloendothelial and neurological systems. We present the case of a male in his early 20s from central India who presented to our outpatient department with a 3-month history of fever, right-sided lower backache and weight loss. A preliminary panel of investigations was unremarkable. However, imaging revealed lymphadenopathy with right-sided sacroiliitis. Despite negative baseline serology (standard agglutination test) and culture, a strong index of suspicion for brucellosis was maintained due to retrospectively elicited history of cattle exposure. This led us to consider an immunocapture agglutination test, which was strongly positive. Subsequently, baseline blood culture was retained for prolonged incubation, yielding Brucella melitensis This case underscores the importance of considering brucellosis as a differential for fever of unknown origin when preliminary diagnostics fail to yield a result.

Vaginal pessaries are a simple and effective conservative treatment for pelvic organ prolapse. However, neglected devices can result in rare but serious complications, including incarceration and fistula formation. A woman in her early 30s with a history of uterine prolapse presented with 4 months of discomfort, lower abdominal pain and dyspareunia. She had a ring pessary inserted 1 year earlier, which had not been replaced or maintained. Examination revealed the pessary incarcerated in the posterior fornix with mucosal overgrowth. Histopathology excluded malignancy, routine tests were normal and MRI confirmed pessary incarceration without bladder or rectal involvement. The pessary was removed surgically under general anaesthesia following a mucosal incision. Recovery was uneventful, and at the 2-week follow-up, the patient was asymptomatic with complete healing.This case highlights the importance of follow-up in pessary users, as neglected devices may cause significant morbidity even in younger women.

Dual anti-platelet therapy remains a cornerstone of the treatment for coronary artery disease. When choosing a second anti-platelet, ticagrelor remains a principal agent after the recent PLATO trial showed its superiority in reducing the incidence of stent thrombosis compared with clopidogrel. Despite this, ticagrelor has been shown to have side effects not seen by other anti-platelets, including shortness of breath, bradycardia and sinus pauses. These side effects are thought to be due to ticagrelor's second molecular target, human equilibrative nucleoside transporter 1, which leads to an increase in extracellular adenosine levels. This rise in adenosine is thought to trigger these adverse effects. This case report presents an example of an individual who has experienced these adenosine-driven side effects after starting ticagrelor and provides a review of the underlying adenosine-driven mechanisms.

Platypnoea-orthodeoxia syndrome (POS) is a rare cause of posture-dependent hypoxaemia, usually linked to intracardiac right-to-left shunts. We report an elderly woman with progressive dyspnoea and recurrent falls whose oxygen saturation fell from 95% supine to 84% upright. Imaging showed kyphoscoliosis with partial right hemi-diaphragmatic dysfunction. Supine and upright contrast transthoracic echocardiography demonstrated delayed bubble appearance, excluding an intracardiac shunt and suggesting an intrapulmonary mechanism. CT pulmonary angiography and Tc-99m macroaggregated albumin scintigraphy ruled out pulmonary arteriovenous malformations, indicating posture-dependent ventilation-perfusion mismatch as the cause. Comprehensive geriatric assessment identified frailty and limited physiological reserve, guiding conservative management with pulmonary rehabilitation and fall-prevention measures. This case emphasises the importance of postural pulse oximetry, sequential imaging and geriatric assessment in diagnosing POS in older adults and describes a rare extracardiac mechanism without cardiac or vascular shunting.

Primary aldosteronism is common in those diagnosed with hypertension and distinguishing primary aldosteronism from its mimics allows tailored management. A woman in her 30s presented to an Australian hospital with hypertensive crisis (209/100 mm Hg) and spontaneous hypokalaemia (2.9 mmol/L). Laboratory tests revealed hyperreninaemic hyperaldosteronism with a normal aldosterone-renin ratio. CT imaging showed focal areas of soft tissue encasement and enhancement surrounding multiple arteries, including the left renal artery, raising suspicion of a medium-vessel vasculitis. Further investigation led to a final diagnosis of polyarteritis nodosa with secondary aldosteronism.

Fibrodysplasia ossificans progressiva (FOP), also known as Munchmeyer disease or 'stone man syndrome', is a rare, disabling genetic disorder caused by an ACVR1/ALK2 mutation, resulting in progressive heterotopic ossification of muscles, tendons and ligaments. Even minor trauma can trigger flare-ups, causing joint fusion and severe disability.An early adolescent male presented with progressive joint stiffness, painful swellings and malnutrition. Examination revealed hallmark signs of FOP, including malformed great toes and widespread soft tissue ossification. Differential diagnoses such as progressive osseous heteroplasia and juvenile fibromatosis were excluded clinically. A biopsy was avoided due to the risk of disease exacerbation, and the diagnosis was made on clinical grounds.As no definitive cure exists, management was supportive with non-steroidal anti-inflammatory drugs for pain, nutritional supplementation and avoidance of surgery. Awareness and early recognition are crucial, while emerging therapies, such as palovarotene and gene-targeted approaches, hold promise for the future.

A patient developed several weeks of progressive bilateral sensorineural hearing loss, initially suspected to be an ischaemic stroke due to right parietal diffusion restriction on MRI. However, the persistence and progression of symptoms, including left upper extremity weakness, word deafness and cognitive decline, were inconsistent with a vascular event. Repeat imaging revealed expanding cortical ribboning without infarct evolution. Extensive workup ruled out stroke, autoimmune encephalitis, infection and seizure-related processes. Cerebrospinal fluid analysis demonstrated significantly elevated 14-3-3 and T-tau proteins, making sporadic Creutzfeldt-Jakob disease probable. This case illustrates how early prion disease can mimic stroke radiographically and clinically, underscoring the importance of reconsidering the diagnosis when neurological deficits progress rapidly and atypically.