BMJ Case Reports最新文献

Often the workup to find the causes of common symptoms can lead to unexpected findings, thereby emphasising the need to keep a broad suspicion and continued search for emerging evidence. In this report, we describe the case of an elderly woman in her late 60s without any comorbidities, who presented with new-onset neck stiffness, progressive headache and continuous fever with no other clue that could lead us to a telltale diagnosis, and in whom the diagnostic staircase ultimately led to the diagnosis of IgG4 hypophysitis and pachymeningitis. Only a prompt clinical suspicion and appropriately timed workup can help in revealing such intricate and uncommon diagnosis among the maze of more common differentials having similar manifestations. Especially in such uncommon scenarios, common aetiologies such as tuberculosis should always be kept in the horizon.

Chronic scleritis poses a diagnostic and therapeutic challenge with multiple mimickers, underlying autoimmune conditions, diverse presentations and variable course. Treatment for mild forms includes topical corticosteroids and non-steroidal anti-inflammatory drugs (NSAIDs). For long-term control in patients with inadequate responses to steroids and NSAIDs, immunomodulators are employed. While oral cyclosporine has been used for inflammatory ocular conditions, research on topical cyclosporine for scleritis is limited. We present two cases: a man in his early 60s and a women in her late 20s, both with chronic, bilateral, intrapalpebral nodular scleritis with the clinical appearance of an inflamed pinguecula. After an initial poor response to conventional treatments, both patients responded positively to cyclosporine 0.05% ophthalmic emulsion as long-term monotherapy, likely due to cyclosporine's inhibitory effects. These outcomes suggest topical cyclosporine as an effective additive therapy to steroids to maintain quiescence for this particular subset of nodular scleritis, especially when traditional therapies are inadequate.

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder characterised by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. Iron deficiency due to chronic bleeding events is a common manifestation that produces a range of nonspecific symptoms. We report on a patient with HHT with longstanding fatigue and exercise intolerance, which was persistently attributed to iron deficiency, who was revealed to have glycogen storage disease type V, an autosomal recessive metabolic myopathy caused by deficiency of myophosphorylase due to PYGM variants. Genetic testing revealed a pathogenic common exon mutation of one allele and a pathogenic intronic mutation of the other, possibly suggestive of a milder phenotype. We not only detail the first case of concurrent HHT and glycogen storage disease in the literature but more importantly emphasise the need for clinician awareness of the disorders to avoid perpetuating a biased clinical impression and delay in diagnosis as well as prevent potentially harmful interventions.

Extranodal involvement in lymphomas is well-documented in the literature. However, certain anatomical sites, such as the epidural space, are rarely affected by lymphoproliferative neoplasms. When lymphomas are confined to the epidural space without other recognisable sites of involvement at diagnosis, they are classified as primary spinal epidural lymphoma. We report the case of a man in his early 30s who presented with lower back pain and progressive quadriparesis. Imaging revealed an extradural mass extending from the sixth to the tenth thoracic vertebrae, with lateral extension into the extrapleural space. A biopsy confirmed diffuse large B-cell lymphoma, and the patient was started on combination chemotherapy.

We present the case of a young male in his mid-30s who developed baroliths, a rare complication, following a barium contrast study. The patient initially presented with abdominal pain, vomiting and constipation. Imaging revealed two large masses of retained contrast material within the sigmoid colon and rectum, consistent with baroliths. Despite initial conservative management, including enema and electrolyte correction, the patient required surgical intervention due to persistent symptoms. An exploratory laparotomy and rigid sigmoidoscopy were performed to remove the impacted stool, leading to symptom resolution. This case highlights the need for vigilance in keeping baroliths as a differential in patients presenting with signs of gastrointestinal obstruction with a history of recent barium studies and emphasises the importance of preventive measures, early recognition and tailored management to prevent severe complications.

We report the case of a girl in her middle childhood who presented with progressive neck swelling, sore throat, dysphagia, low-grade fever and malaise, and with no prior vaccinations. Examination revealed a 'bull neck' appearance with pseudomembranous pharyngitis, which showed bleeding on membrane removal. The patient did not have any respiratory distress, but RT-PCR confirmed the concurrent coinfection of DPT with SARS-CoV-2. The laboratory investigations exhibited a leucocyte count of 17.2 × 10⁹/L and ALT raised at 113 U/L, indicative of systemic involvement. Imaging showed mild tonsillar calcifications with ground-glass opacities on the chest CT, which placed a CT severity score for cough severity of 13/25, indicating moderate COVID-19 pneumonia. Treatment was intravenous DPT antitoxin (100 000 units) and cefotaxime (1 g two times per day for 14 days). Symptomatic resolution occurred within 10 days, including clearing inflammatory markers and membranes. Recovery was complete and uncomplicated, with no sequelae after 3 months.

IgA vasculitis (IgAV), also called Henoch-Schönlein purpura (HSP), is an immune complex vasculitis characterised by IgA1-dominant immune deposits affecting small vessels (predominantly capillaries, venules or arterioles). It often involves the skin and gastrointestinal tract, frequently causes arthritis and rarely causes vasculitis in the kidney indistinguishable from IgA nephropathy. It usually presents as a purpuric non-blanching rash mostly on the lower limbs, although it may extend to the upper limbs and the trunk, and more rarely to the face. Respiratory tract infection or a history of exposure to antigens from certain foods, insects, drugs or vaccines may trigger the pathogenesis of IgAV. Adenovirus mostly causes acute respiratory diseases and occasionally causes gastroenteritis. Literature on the adenovirus as a trigger or direct involvement in the onset of IgAV is scarce. We report a few cases where IgAV is associated with adenovirus infection, and more research is required to establish this association.

A nulliparous woman presented to the hospital at 11 weeks' gestation with acute onset chest pain, non-specific ECG changes and mildly elevated cardiac enzymes despite having no cardiac risk factors. She re-presented 4 days later with chest and arm pain, and ECG changes consistent with a posteroinferior ST elevation myocardial infarction. She was diagnosed with a spontaneous coronary artery dissection on a coronary angiogram and a right vertebral artery dissection on CT scan. Subsequent extension of the coronary dissection 4 days later required a coronary artery bypass graft. The patient elected to continue the pregnancy, while acknowledging the maternal and fetal risks. At 28 weeks' gestation, the fetus had dilated small bowel loops on the obstetrical ultrasound. At 33+4 weeks' gestation, a 2154 g male infant was born by emergency Caesarean section for non-reassuring cardiotocography. The infant had jejunal atresias, requiring bowel resection and primary anastomoses.

We present a case of a patient who was successfully treated for a critical illness involving a large parapneumonic effusion and hypercapnic respiratory failure secondary to infection with Legionella pneumophila This pathogen is thought to have originated from a commercially available mushroom growing kit.

Peptic ulcer disease (PUD) is a common cause of abdominal pain which can present acutely with gastrointestinal perforation. This report presents an exceptionally rare case of a patient whose presentation of perforated PUD heralded a new diagnosis of both multiple myeloma and sickle cell disease (SCD). Histological analysis of the ulcer tissue, following omental patch repair, did not demonstrate features of extramedullary myeloma or amyloid light chain deposition, two pathologies traditionally thought to drive PUD in this patient group. Instead, we suggest malignant hypercalcaemia stimulating gastric acid secretion, in combination with mucosal ischaemia caused by SCD, may have led to gastric mucosal erosion. This case underscores the diagnostic challenges in managing patients with complex comorbidities and the need to consider atypical causes of PUD in the workup of this patient group.