BMJ Case Reports最新文献

A woman in her late 60s was referred with a positive faecal immunochemical test and change in bowel habit; a suspicion of gastrointestinal (GI) cancer led to straight-to-test vetting for colonoscopy, which was unsuccessful due to a nontraversable, fixed sigmoid colon, secondary to prior hysterectomy and adhesions.Radiological evaluation with CT scanning revealed an abnormally thickened stomach, with subsequent upper GI endoscopy and biopsy findings confirming the presence of invasive poorly differentiated carcinoma consistent with metastatic invasive lobular carcinoma originating from the breast. Immunohistochemistry testing for gross cystic disease fluid protein was positive, and the tumour demonstrated positive oestrogen receptor status, while human epidermal growth factor receptor 2 status was negative. The immunohistochemical profile of this carcinoma was identical to that observed in synchronous breast cores, indicating metastatic invasive lobular carcinoma of the breast.This unusual presentation of breast cancer metastasis is not well recognised.

Familial glucocorticoid deficiency (FGD) is a rare inherited cause of primary adrenal insufficiency, characterised by cortisol deficiency, without mineralocorticoid involvement. Affected patients commonly present in infancy or early childhood with hypoglycaemia, seizures, generalised hyperpigmentation and failure to thrive. Late diagnosis may lead to adverse neurological outcomes, usually resulting from repeated hypoglycaemic episodes. A family history of sibling deaths or affected relatives is often observed. Mutations in the gene encoding adrenocorticotropin receptor (melanocortin 2 receptor, MC2R), comprise about 25% of FGD cases (type 1 FGD). Here, we describe an infant born to parents with third-degree consanguinity and a history of unexplained neonatal deaths in two previous siblings, who had hyperpigmentation and hypoglycaemia. Genetic testing revealed both parents to be heterozygous for the MC2R gene variant c.701C>C/T (p.Pro234Leu). In the current pregnancy, amniocentesis performed for prenatal diagnosis confirmed the fetus to be homozygous for the same mutation as the parents, indicating the fetus would be affected with type I FGD. After birth, the infant was managed in the neonatal intensive care unit, and despite markedly low cortisol levels, prompt initiation of glucocorticoid replacement therapy resulted in the prevention of hypoglycaemia and adrenal crisis, with a favourable outcome. Our case is unique due to the antenatal diagnosis of FGD, allowing for proactive postnatal management and prevention of complications.

We describe the case of a middle-aged man with stage IV metastatic melanoma receiving ipilimumab/nivolumab combination therapy. Two weeks after receiving his third cycle of treatment, he presented to the emergency department with altered mental status, acute kidney injury, fever, anaemia with labs suggestive of haemolysis and a platelet count of 10. He had a calculated plasmic score of 6. A review of the peripheral smear confirmed the presence of schistocytes. He was treated with emergent plasma exchange, high-dose steroids, rituximab and caplacizumab throughout his hospitalisation. He had a good response to this treatment and was ultimately discharged to home 15 days later with a platelet count of greater than 200 and a high ADAMTS13 level in plasma (undetectable on admission).A growing body of literature suggests the possibility of thrombotic thrombocytopenic purpura (TTP) secondary to immunotherapy use, and thus a high index of suspicion is needed in these patients for timely, life-saving treatment initiation.

Soft tissue injuries of the head and neck are the most common injuries encountered in trauma emergency department, accounting for over 50% of injuries. Scalp soft tissue loss continues to pose a challenge for reconstruction due to limited skin mobility in the area. We present a case report involving two patients with traumatic soft tissue loss affecting the scalp who underwent rotational flap closure with favourable cosmetic results. Case 1: A male patient in his early 30s arrived at the emergency department with a history of road traffic accident, sustaining head injury. Soft tissue loss was noted on the left side of the fronto-parietal region, exposing the frontal bone. A rotational flap cover was performed using the unilobed technique. He was discharged on postoperative day 10. Case 2: A female patient in her late 40s presented to the emergency department with a history of a road traffic accident. Soft tissue loss was noted on the left side of the forehead, exposing the frontal bone. A unilobed rotational flap was successfully achieved with satisfactory cosmetic outcomes.

Periorbital necrotising fasciitis is an extremely rare and life-threatening condition, often requiring complex reconstructive strategies. The anterolateral thigh (ALT) flap is a fasciocutaneous flap often employed for cancer and trauma reconstruction. We report the successful utilisation of the ALT flap as a single-stage operation for reconstruction of a large tissue defect following extensive debridement and orbital exenteration using the reconstructive elevator as a framework for decision-making. The elderly patient recovered quickly, and the ALT flap provided suitable soft tissue coverage with future plans for elective flap debulking made to improve facial cosmesis.

Head and neck squamous cell carcinoma (HNSCC) with laryngeal involvement can lead to significant airway obstruction and compromise. This case report details a female patient in her 60s with a history of asthma who presented with refractory dyspnoea and persistent hoarseness, initially attributed to asthma. After multiple emergency room visits and treatment with bronchodilators and steroids, further investigation revealed an exophytic mass in the larynx, diagnosed as SCC. Despite normal pulmonary function tests, imaging indicated significant airway narrowing. The patient underwent a tracheostomy to secure her airway and was subsequently referred for curative surgery. This case underscores the importance of considering HNSCC in patients with unexplained respiratory symptoms, regardless of smoking history, and highlights the need for thorough investigation to prevent complications from advanced disease. Early multidisciplinary intervention is crucial in managing such cases effectively.

22q11.2 deletion syndrome (22q11.2DS) presents with a wide range of clinical manifestations, posing a diagnostic challenge. When cardinal characteristics, such as conotruncal cardiac anomalies or immunodeficiency, are absent, genetic testing may be delayed, postponing interventions to minimise developmental delay. We present a case of monochorionic monoamniotic identical twins diagnosed with de novo 22q11.2DS around 3 months of life, who lacked major characteristics of the disease. Both infants were admitted and discharged multiple times with consistent concerns for failure to thrive (FTT) and aspiration. Twin B was incidentally found to have asymptomatic hypocalcaemia and hypoparathyroidism, leading to a 22q11.2DS diagnosis. Twin A had no symptoms other than FTT and aspiration. This case encourages considering 22q11.2DS in the differential diagnosis for FTT, even when classic symptoms are absent or delayed in presentation. Early recognition allows for timely intervention and better outcomes.

Here, we report a case of a female adult patient presenting with fleshy lesions on her scalp who underwent elective excision, and two separate lesions were identified on histopathology. She was found to have an unusual concurrent presentation of syringocystadenoma papilliferum (SCAP) and basal cell carcinoma, emphasising the importance of differential diagnosis in cutaneous lesions. While SCAP is benign, the presence of basal cells necessitates careful monitoring and appropriate treatment. Factors contributing to the simultaneous occurrence of these lesions, such as genetic predisposition or environmental factors, warrant further investigation. Clinicians should be aware of the potential for concurrent skin lesions, particularly in sun-exposed areas. Comprehensive evaluation and management are crucial to ensure appropriate treatment and follow-up for patients presenting with multiple skin tumours.