BMJ Case Reports最新文献

Primary pulmonary lymphoma (PPL) is a rare extranodal lymphoma confined to the lungs, accounting for <1% of non-Hodgkin lymphomas. We describe a man in his early 30s presenting with progressive dyspnoea, fever and productive cough, initially treated as pneumonia. Despite multiple antibiotic courses, radiological lesions persisted. Histopathology and immunohistochemistry from transbronchial lung biopsy revealed extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. PET-CT confirmed localised pulmonary involvement, fulfilling criteria for PPL. The patient responded to rituximab-bendamustine chemoimmunotherapy with clinical improvement. This case highlights the importance of considering rare malignancies in non-resolving pulmonary consolidations.

This report describes a preterm male neonate who presented in his second month of life with seizures, anasarca and severe hypoalbuminaemia. Laboratory evaluation revealed heavy proteinuria, electrolyte disturbances and microbiological seropositivity (cytomegalovirus, herpes simplex virus, rubella), while urine culture isolated Klebsiella Whole-exome sequencing confirmed a homozygous NPHS1 variant consistent with Finnish-type congenital nephrotic syndrome. The infant required mechanical ventilation, inotropic support, daily albumin infusions, antiviral therapy and intensive electrolyte correction during his neonatal intensive care course. Gradual stabilisation allowed discharge on oral therapy and nutritional supplementation, with continued weight gain and appropriate neurodevelopment during follow-up. This case is unique for its preterm onset, multiple congenital infections and early neurological involvement. It highlights the importance of considering genetic nephrotic syndromes in neonatal multisystem illness, early integration of genetic testing and infectious screening and the role of multidisciplinary care in optimising outcomes.

Multisystem inflammatory syndrome in neonates (MIS-N) is a rare condition linked to perinatal exposure to SARS-CoV-2. We report a case of a term male neonate presenting at birth with severe respiratory failure and persistent pulmonary hypertension of the newborn. Initial evaluations, including chest X-ray and ECG, were unremarkable, but echocardiography showed elevated pulmonary pressures without structural abnormalities. Over the next few days, the infant developed diffuse skin peeling, acute kidney injury and hypertension, creating a perplexing clinical picture. Only after retrospective maternal history revealed a late-pregnancy febrile illness was SARS-CoV-2 testing performed: the mother was RT-PCR positive, and the neonate had markedly elevated SARS-CoV-2 IgG with negative RT-PCR, consistent with proposed diagnostic criteria for MIS-N. The infant responded well to methylprednisolone (2 mg/kg/day) and intravenous immunoglobulin (2 g/kg). Serial echocardiography revealed diffuse endomyocardial and coronary intimal echogenicity suggestive of calcification, reproducible across time and imaging platforms, a feature not previously described in MIS-N. Persistent systemic hypertension was attributed to MIS-N after exclusion of other causes. The infant was discharged on aspirin (3 mg/kg/day) and antihypertensives and remains well on follow-up. This case underscores the diagnostic challenges of MIS-N and highlights unusual sequelae such as myocardial calcification and neonatal hypertension.

Immune checkpoint inhibitor immunotherapy enhances T cell activity against cancer cells but often leads to the immune system targeting healthy cells, causing 'immune-related adverse events' (irAEs). We report the case of a man in his 70s with metastatic melanoma being treated with ipilimumab and nivolumab. He presented with febrile neutropenia after lacerating a thumb on his compost bin. The neutrophil count only recovered once oral prednisolone was commenced, indicating a haematological irAE. A restaging Positron Emission Tomography scan revealed intramuscular ring-enhancing collections throughout his body, one of which was aspirated and cultured the fungus Lomentospora prolificans He was treated with voriconazole plus terbinafine, both of which were later substituted with olorofim due to a voriconazole-induced rash. After 4 months, the collections had resolved on repeat imaging, and olorofim was ceased due to transaminitis. This case highlights neutropenia as a lesser-known adverse effect of immunotherapy and raises awareness about L. prolificans infection.

A woman in her mid-30s at 24+5 weeks of a dichorionic diamniotic twin pregnancy with single intrauterine fetal demise presented with simultaneous prolapse of both amniotic sacs into the vagina and a 3 cm dilated cervix. She underwent ultrasound-guided amnioreduction and an emergency double McDonald cerclage using two Ethibond #2 sutures placed 1 cm apart. The pregnancy was successfully prolonged to 36+5 weeks, resulting in caesarean delivery of a healthy neonate weighing 2220 g and the demised co-twin. This case is unique, as it provides the first documented clinical and ultrasound images of simultaneous prolapse of both sacs in a twin pregnancy successfully managed by double cerclage.

A woman in her 60s with a history of atrial fibrillation, hypertension and dyslipidaemia was admitted to the Intensive Care Unit with hypotension, dehydration and acute kidney injury after 20 days of watery diarrhoea. Although initial investigations did not detect an evident infectious aetiology, a diagnosis of infectious colitis was hypothesised. After supportive care and quick recovery, she was discharged and instructed to resume her prior medications, including olmesartan (used for 1 year) for hypertension. Diarrhoea and renal failure recurred promptly, leading to readmission. Gastroscopy revealed severe villous atrophy and inflammation of the duodenum. However, serological tests for coeliac disease were negative. Olmesartan-related sprue-like enteropathy was diagnosed after discontinuing olmesartan, leading to clinical improvement without a gluten-free diet. This case emphasised the importance of considering iatrogenic causes in severe enteropathy differential diagnosis, particularly olmesartan-related complications in patients presenting with sprue-like symptoms, watery diarrhoea and acute renal failure.

ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome is a rare multisystem autoinflammatory disorder caused by heterozygous gain-of-function mutations in ALPK1 Initially characterised by these features, its clinical spectrum extends beyond the acronym. We report the first genetically confirmed case in Latin America. The proband, in her mid-20s, presented with progressive retinal dystrophy leading to vision loss, xerostomia, short dental roots, recurrent low-grade fevers and elevated C-reactive protein. Notably, she lacked splenomegaly and anhidrosis; instead, mild hypohidrosis was identified retrospectively following genetic confirmation of the ALPK1 p.Thr237Met variant. Her mother, carrying the same variant, exhibited blindness from advanced retinal degeneration, severe arthritis, recurrent fevers, hypohidrosis and inability to lactate. This family illustrates the variable expressivity of ROSAH syndrome and underscores that absence of classic features should not exclude the diagnosis. Early recognition and genetic testing are essential, as timely initiation of immunomodulatory therapy may mitigate the risk of loss of vision.

A male child presented with complex abnormal head posture (AHP), characterised by a 35° left head turn and a 45° left head tilt. Orthoptic evaluation revealed orthotropia with full ocular motility and a high-frequency, moderate-amplitude horizontal pendular nystagmus, which dampened in the preferred AHP. The remainder of ocular examination was unremarkable.Surgical correction was performed using Park's modification of the horizontal Kestenbaum procedure to shift both eyes to the left. To address the head tilt, extorsion of the left eye and intorsion of the right eye were achieved by vertically offsetting the horizontal rectus muscles.Postoperative evaluation showed complete resolution of the head turn, with a residual 5° left head tilt, which remained stable at 1-year follow-up.In conclusion, this surgical approach offers a simple and effective method for simultaneous correction of head tilt and turn in idiopathic infantile nystagmus syndrome, reducing the need for more complex muscle surgery.

Pancreatic schwannoma is usually a benign neoplasm presenting with non-specific symptoms, and preoperative diagnosis is often difficult to establish. The imaging features can overlap from benign cystic lesions to ductal adenocarcinomas.Diagnosis is mainly histological with characteristic microscopic appearance (aggregates of spindle-shaped cells) and immunostaining (positive for S100 and SOX-10) suggestive of a peripheral nerve sheath tumour. Due to diagnostic ambiguity, surgical resection is often mandated.We present a case of a female patient in her sixth decade of life presenting with symptoms pointing towards a malignant pancreatic head tumour. She underwent formal pancreatoduodenectomy, which on histopathological examination was diagnosed as a schwannoma.