BMJ Case Reports最新文献

This case report describes a male patient in his 70s who developed a rare and severe complication of gamma knife radiosurgery (GKRS) following treatment for trigeminal neuralgia. While initially effective, the patient developed progressive facial numbness and intractable facial pain approximately 1 year post-treatment, resulting in a diagnosis of anaesthesia dolorosa (AD), a debilitating form of deafferentation pain marked by painful numbness. Despite multiple specialist evaluations and treatment attempts, his symptoms persisted, profoundly impairing function and quality of life. This case underscores the potential for delayed-onset, life-altering complications following GKRS, a treatment generally considered safe. It highlights the critical importance of thorough preoperative counselling, long-term follow-up and early recognition of atypical symptom evolution. As AD is rarely reported after GKRS, this case adds to the limited literature and calls for increased clinical awareness and multidisciplinary approaches to diagnosis, prevention and management of this devastating condition.

This case report discusses a woman in her 30s presenting with an acute, rapidly progressive left anterior cervical swelling. While the neck swelling improved spontaneously, the patient subsequently developed large bilateral pleural effusions with respiratory failure requiring ventilatory support in the high dependency unit. Therapeutic thoracocentesis yielded chylous pleural fluid bilaterally. The respiratory failure subsequently improved and the patient was discharged home. This was an atypical presentation of chylothorax with no history of malignancy, atypical infection or apparent blunt trauma to the thoracic cage. The presence of bilateral chylothoraces suggested a multilevel thoracic duct injury. A significant tonic-clonic epileptic seizure, 6 days prior, is hypothesised as the potential underlying cause, which has not previously been reported in the literature.

Miliary tuberculosis (TB) is a rare but severe manifestation in infancy. Hypercalcaemia, well documented in granulomatous diseases like TB and sarcoidosis in adults, is infrequently reported in children. Nephrogenic diabetes insipidus induced by hypercalcaemia is a known complication. A female infant with right-sided neck swelling for 1 month (fine-needle aspiration showed tubercular lymphadenitis), on four-drug anti-tubercular therapy (ATT), admitted with complaints of polyuria, polydipsia and progressive weight loss over the last 2 weeks. Her father was on ATT for pulmonary TB. Investigations revealed hypercalcaemia with suppressed parathyroid hormone, elevated 25-hydroxyvitamin D₃ and 1,25-dihydroxyvitamin D₃, high urinary calcium-to-creatinine ratio and dilute polyuria. Despite adequate hydration and ATT, hypercalcaemia persisted, necessitating corticosteroids, furosemide and a single dose of intravenous zoledronic acid. The child improved significantly with this approach. Hypercalcaemia in paediatric TB, although rare, can be a life-threatening emergency. Prompt recognition and multimodal treatment are crucial steps in management of the condition.

Zinc is an essential micronutrient for the body and plays a crucial role in skin integrity, yet zinc deficiency remains an under-recognised cause of dermatitis, particularly in patients with predisposing risk factors. A male in his mid-30s with alcohol-related liver disease and ulcerative colitis presented with a widespread rash. Initial treatment for contact dermatitis and possible herpes simplex virus infection with topical steroids, antivirals and emollients was unsuccessful. His condition worsened, requiring intensive care admission. Imaging revealed bilateral pneumonia, and a skin biopsy returned inconclusive results. Dermatology review raised suspicion for an acrodermatitis enteropathica (AE)-like presentation. Although AE is typically inherited, acquired zinc deficiency can mimic its features in high-risk individuals. Subsequent serum zinc testing revealed low levels, and supplementation was initiated, resulting in rapid clinical improvement, supporting the diagnosis. This case highlights the need to consider micronutrient deficiencies, including zinc, in patients with severe dermatitis and significant risk factors. .

Quadrilateral space syndrome (QSS) is an uncommon cause of posterior shoulder pain and deltoid weakness, most often related to axillary nerve compression. We report a young adult male who presented with persistent pain and weakness of the right shoulder following trauma. Examination revealed deltoid atrophy and loss of abduction strength. MRI demonstrated a large inferior paralabral cyst compressing the quadrilateral space, while electromyography confirmed axillary nerve involvement. Initial management with arthroscopic labral repair and cyst decompression provided partial relief; however, persistent neurological deficit required secondary open quadrilateral space decompression. The patient achieved complete recovery of range of motion and deltoid strength, with no cyst recurrence at the 2.5-year follow-up. This case underscores the importance of considering QSS in patients with unexplained posterior shoulder pain and weakness, highlights paralabral cysts as a rare but treatable cause, and demonstrates the value of staged management and long-term follow-up in preventing chronic axillary neuropathy.

Foreign body (FB) aspiration in adults is uncommon and often overlooked, particularly without a clear history of aspiration. Bilateral airway obstruction due to aspirated dentures is exceptionally rare and may mimic chronic obstructive pulmonary disease (COPD), resulting in diagnostic delay. We report the case of a male patient in his 40s with a known history of COPD, who presented with progressively worsening respiratory symptoms. Imaging revealed radio-opaque FBs in the bilateral mainstem bronchi. Flexible bronchoscopy confirmed and enabled successful retrieval of dentures from both bronchi, leading to marked clinical improvement. This case highlights the importance of considering FB aspiration in adults with unexplained or refractory respiratory symptoms and demonstrates the utility of flexible bronchoscopy for both diagnosis and management.

Vitamin A deficiency-which leads to xerophthalmia-is rarely observed in developed countries. However, it can be triggered by malabsorption conditions such as short bowel syndrome (SBS). Herein, we present an early-adolescent boy with hypoganglionosis-related SBS receiving long-term supplemental parenteral nutrition who presented with night blindness, bilateral conjunctival xerosis and Bitot's spots. The patient's serum retinol level was 4.2 (normal: > 20) µg/dL. Thus, 100 000 IU of vitamin A was administered intramuscularly on days 1, 2 and again after 2 weeks. The ocular signs and night blindness resolved. Paediatric patients with SBS may develop symptomatic xerophthalmia despite routine supplemental or total parenteral nutrition. Therefore, regular ophthalmologic examinations are recommended. However, in the case of any ocular abnormality-such as night blindness and conjunctival xerosis-clinicians should immediately facilitate the measurement of serum retinol levels. Intramuscular high-dose vitamin A is an effective treatment if malabsorption prevents adequate enteral uptake.

While microsatellite instability-high (MSI-H) colorectal cancer (CRC) exhibits high sensitivity to immunotherapy, microsatellite stable (MSS) CRC is a particularly immune-resistant disease. Whether microsatellite status remains unvaried in solid tumours or changes over time under treatment pressure is largely unknown, as, to our knowledge, no previous cases have been reported in the literature.Here, we report the case of a patient with MSI-H CRC who experienced a long-lasting complete response to first-line pembrolizumab, but subsequently relapsed after more than 4 years with an MSS phenotype, which acts as an immune escape mechanism. This case may present new challenges in this field that have not been previously described.