BMJ Case Reports最新文献

Pulmonary artery stenosis (PAS) is most encountered in the paediatric population as a congenital anomaly. In adults, PAS from extrinsic compression of the pulmonary artery (PA) results from conditions such as fibrosing mediastinitis, malignancy, infections and anastomotic stenosis after lung transplantation. We describe a woman in her 50s with extensive stage small cell lung cancer who presented with symptoms of shortness of breath and hypoxaemic respiratory failure. CT angiography chest showed a progressively enlarging mediastinal mass causing severe compressive stenosis of the right PA and moderate stenosis of the left PA. Her symptoms did not improve despite using bronchodilators and intravenous steroids. Pulmonary angiography confirmed clinically significant stenosis of her right PA. The placement of a single stent within the right PA provided significant improvement in symptoms and supplemental oxygen requirement within 24 hours.

Ovarian inguinal herniation is a rare clinical entity. It can be safely managed laparoscopically, even in patients with concurrent gynaecological malignancies requiring radical hysterectomy.We present the case of a middle-aged woman admitted for severe anaemia and progressive weakness. Imaging revealed endometrial cancer and a right inguinal hernia containing an 8 cm lesion of indeterminate origin. MRI identified strangulated ovarian tissue within the hernia, and histopathology confirmed a low-grade endometrioid adenocarcinoma.The patient underwent a planned laparoscopic procedure, including radical hysterectomy, sentinel lymph node biopsy and simultaneous inguinal hernia repair. The hernia was repaired using the transabdominal preperitoneal approach after excision of the right adnexa, with polyvinylidene fluoride mesh fixation. The patient experienced an uneventful recovery and was discharged on the second postoperative day.Histopathological analysis confirmed low-grade endometrioid carcinoma with clear margins and metastasis in two lymph nodes, demonstrating the feasibility of managing both conditions concurrently.

A young man in his late adolescence presented with a gradually progressive diminution of vision in both eyes for 3 years. A general physical examination revealed features suggestive of Marfan syndrome, with a positive family history. Ocular examination revealed a superonasal lens subluxation with a myopic fundus in both eyes. The patient underwent pars plana lensectomy with anterior vitrectomy in the right eye followed by the left eye. The right eye surgery was uneventful, and the patient was left aphakic. On the first postoperative day, the left eye developed hypotony. By the second day, spontaneous scleral melt was noted posterior to the surgical wound with severe hypotony and loss of globe architecture. The patient was taken up for emergency surgery with an amniotic membrane graft over the area of scleral melt and was started on oral ciclosporin (100 mg). Postoperatively, the patient's globe stabilised. After 1 week, the patient's vision increased to 6/24 with normal intraocular pressure.

Macrophage activation syndrome (MAS) is a frequent complication of adult-onset Still's disease (AOSD) and is characterised by organ dysfunction, cytopenia and coagulopathy. There are few data regarding the use of granulocyte colony-stimulating factor (G-CSF) as a treatment for neutropenia in MAS due to AOSD. This case describes a previously healthy mid-20s patient who was diagnosed with AOSD and subsequently MAS. Although his clinical symptoms and ferritin levels responded well to steroids, interleukin-1 inhibition and Janus kinase inhibition, he developed prolonged and profound neutropenia for which he received one dose of G-CSF. His MAS flared markedly, requiring intensive immunosuppression and significantly prolonging his hospital stay. This report illustrates that G-CSF carries the risk of worsening inflammation leading to MAS, particularly in auto-inflammatory conditions such as AOSD.

Mild developmental delay in infants with obesity is often disregarded, attributing it to increased weight by parents and practitioners. We report an infant with obesity and gross motor delay after the first 6 months of age, seizures and obstructive sleep apnoea. The child was diagnosed with pseudohypoparathyroidism (PHP) and was medically managed with parenteral calcium, vitamin D and magnesium. Appropriate early interventions by developmental therapists addressing the developmental domains coordinated by developmental paediatricians and relevant drug and diet management corrected the delay. The child is followed up for soft tissue calcifications, kidney functions and skeletal health. This case highlights the importance of early recognition and comprehensive management of correctable conditions like PHP by developmental specialists rather than addressing only the developmental aspect of it.

A newborn delivered by emergency lower segment caesarean section at 35 weeks of gestation suspected duodenal atresia antenatally with maternal ultrasonogram showing double bubble sign. After birth, the baby was stabilised and taken up for laparotomy and was found to have duodenal atresia along with intestinal malrotation, annular pancreas and preduodenal portal vein (PDPV). Ladd's procedure with Kimura's duodenoduodenostomy was performed. In a similar previously reported case study, a gastrojejunostomy was conducted;⁵ here, we were able to do a duodenoduodenostomy which is a better physiological anastomosis than a gastrojejunostomy since we achieved adequate duodenal mobilisation after the Ladd's procedure. Postoperatively, the patient recovered well, tolerated feeds, passed stools and gained adequate weight.

A woman in her 70s on pembrolizumab for non-small cell lung cancer experienced progressive fatigue, intractable nausea and reduced mobility since commencing her cancer treatment. After repeat admissions and prolonged inpatient stay from compounded septicaemia, a diagnosis of programmed cell death 1 (PD-1) inhibitor-induced hypophysitis was confirmed, with remarkable improvement on commencement of cortisol replacement.While this side effect is known to oncologists, the non-specific symptoms and a lack of familiarity with PD-1 inhibitor and programmed cell death ligand 1 inhibitor therapies in other medical fields can result in diagnostic delays if not actively searching for hypophysitis.Intractable nausea, vomiting and weight loss, even in the absence of hyponatraemia or hypoglycaemia, should trigger physicians to consider hypophysitis.

In this case, a man in his late 20s visited his general practitioner with unilateral left nipple discharge. Initially, he was treated with antibiotics and the nipple discharge stopped. When the discharge recurred after a few weeks, the patient was referred to the multidisciplinary breast centre in UZ Leuven. Clinical examination revealed an otherwise healthy but obese man (body mass index of 31 kg/m²). On examination, we were able to evacuate bloody discharge from a single duct by mild compression of the left nipple.The bilateral mammography and ultrasound showed an irregular retroareolar density of 40×50 mm with adjacent, multiple clustered microcalcifications over a total distance of 20 mm on the left side.The histopathological report after core needle biopsy revealed a poorly differentiated ductal carcinoma in situ Genetic testing for hereditary breast-ovarian cancer genes was negative. A simple left mastectomy with sentinel lymph node biopsy was performed. There was no indication for adjuvant chemotherapy or radiotherapy, nor for adjuvant endocrine therapy.