Oxford Medical Case Reports最新文献

Endoscopic retrograde cholangiopancreatography is a complex procedure with a significant risk of severe consequences. We herein report a 56-year-old Middle Eastern female who was diagnosed with acute ascending cholangitis. Endoscopic retrograde cholangiopancreatography was performed with gallstone absorption and stent implanting. However, the patient developed significant pneumothorax; pneumomediastinum, pneumoperitoneum, pneumoretroperitoneum, and subcutaneous emphysema of the abdomen, chest, right arm and shoulder, face and right orbital area. Radiological studies demonstrated no evidence of perforation on bowel obstruction. The patient was treated successfully with good results and post-operative follow-up was unremarkable. In conclusion, air leakage following endoscopic retrograde cholangiopancreatography without evidence of perforation is extremely rare. While pneumothorax development usually requires thoracostomy; pneumomediastinum, pneumoperitoneum, pneumoretroperitoneum, and subcutaneous emphysema are usually treated conservatively.

MEN1 is a rare syndrome caused by mutations in the MEN1 gene. We describe a clinical case of MEN1 syndrome associated with a recently discovered pathogenic mutation of MEN1 gene. A 32-year-old man with a history of osteopenia, nephrolithiasis, hypercalcemia and hypophosphatemia, impaired fasting glucose, and asthenia was admitted to our outpatient unit. Primary hyperparathyroidism, sustained by three hyperplastic parathyroid glands, was diagnosed. Prolactin- and GH-secreting adenomas were ruled out. After undergoing subtotal parathyroidectomy, the patient was diagnosed with non-functioning pituitary adenoma, three pancreatic lesions, and Cushing syndrome sustained by left adrenal adenoma. The patient underwent left adrenal surgery; somatostatin analogue lanreotide was started for the pancreatic lesions; the pituitary adenoma, being small and non-secreting, was not treated. A genetic test was performed to confirm the diagnosis of MEN1 syndrome, finding an association with a recently discovered mutation: the (NM_130799.2):c.758delC (p.Ser253Cysfs^*28) in exon 4.

An 83-year-old woman presented with disturbance of consciousness and hand tremor. She had taken lithium carbonate 300 mg/day for bipolar disorder and magnesium oxide 660 mg/day for constipation. Blood tests revealed lithium poisoning, hypermagnesemia and acute kidney injury. Computed tomography showed colonic obstruction caused by cancer of the descending colon. In the outpatient section, her blood pressure decreased to 89/54 mmHg, and her heart rate dropped to 40 bpm. We considered that the obstructive ileus induced intravascular dehydration, which led to toxic serum concentrations of lithium and magnesium, triggering the emergence of severe arrythmia induced by sinus dysfunction. The patient was treated with fluid resuscitation and hemodialysis, followed by endoscopic stent replacement for the descending colon cancer obstruction. These treatments improved her general condition and alleviated the lithium poisoning, hypermagnesemia and colonic obstruction. Such a case is considered extremely rare.

Recognising emergent acute pathology in the context of established chronic conditions can be challenging and is often overlooked due to cognitive biases in the physician's decision making. In the context of Parkinson's disease (PD), there is a large overlap between the non-motor symptoms of PD, common gastrointestinal symptoms amongst the elderly population, and symptoms associated with acute, severe GI pathology, which can result in diagnostic overshadowing. Here, a 68-year-old man with a background of PD reported nausea, constipation, and abdominal discomfort during routine frailty review by his general practitioner (GP). The patient reported these were common symptoms which usually resolved with laxatives. Aware of the potentially sinister nature of this presentation, the GP arranged transfer to the emergency department where CT subsequently revealed a closed-loop small bowel obstruction. This case highlights how frailty medicine is particularly susceptible to cognitive biases, which are commonly cited sources of medical errors.

Silver hair in a neonate is an uncommon occurrence. The aetiology of this condition is varied and is associated with immunodeficiency disorders such as Griscelli syndrome and Chédiak-Higashi syndrome. A preterm neonate with Griscelli syndrome type 2 might present with just silver colour staining of hair including the lanugo hair with no other complications. In those with associated systemic abnormalities such as congenital pulmonary airway malformation, further evaluation for conditions such as Menke-Kinke hair syndrome is required. In this case series, we describe two unique cases of silver hair syndrome in preterm neonates with their clinical description, course in the hospital, role of hair mount and genetic testing for further identification and diagnosis of this disorder.

[This corrects the article DOI: 10.1093/omcr/omae018.].

Supraventricular tachycardia (SVT) is a narrow QRS complex tachyarrhythmia with a heart rate above 220 beats per minute in infants and children. Ventricular tachycardia can be due to electrolyte abnormalities, cardiomyopathies, congenital heart disease, myocarditis or drug toxicity. Incidence has been estimated to be 1 in 250 to 1 in 1000 with spontaneous resolution in infants by one year of life. We present a full-term neonate who started experiencing a tachyarrhythmia on day zero of life until she reverted to sinus rhythm on day nine of life. The rhythm was most likely a ventricular tachyarrhythmia rather than supraventricular tachycardia due to its unresponsiveness to adenosine, wide QRS complexes, and lack of association with hemodynamic instability. This is a unique case presentation of a ventricular tachyarrhythmia for its diagnostic and therapeutic challenges, it's idiopathic nature and lack of association with any cardiac compromise, congenital heart disease or electrolyte imbalance.

Introduction: Pancreatic lesions have varied morphology and presentation making their diagnosis challenging. The lesions may be asymptomatic incidentalomas on abdominal imaging for other conditions, symptomatic producing specific hormone effects or causing local effects.

Case: We report a 35-year-old woman with recurrent abdominal pain confirmed gastroesophageal reflux disease. Initial CT imaging reported findings of a pancreatic pseudocysts. A careful review of the imaging showed cystic dilatation of the main pancreatic duct mimicking a main pancreatic duct intra-ductal papillary mucinous neoplasm. At surgery, a small nodule palpated in the pancreatic head with sacculation in the body and tail. A histopathological review showed a pancreatic neuroendocrine tumour blocking the main pancreatic duct at the neck causing downstream dilatation and sacculation. This case highlights the difficulty of diagnosing small asymptomatic pancreatic tumours especially with limited range of imaging modalities while increasing awareness of these conditions to improve our ability to manage them effectively.

We conducted clinical and histological evaluations on two male patients who presented with corneal keloid. One patient had a history of corneal trauma due to contact with boiling sunflower oil, while the other had undergone pterygium removal. Upon slit lamp examination, the corneal lesions were identified as single, well-circumscribed, pearly white nodules with a smooth surface. We successfully removed these nodules using a combination of superficial keratectomy and the application of mitomycin C. Light microscopy analysis of the excised nodules revealed hyperplastic epithelium, disrupted Bowman's layer, and irregularly arranged abundant collagen fibers within the stroma. Notably, there was no recurrence of the lesions in either case within six months following the surgical excision. Secondary corneal keloids should be considered as a potential diagnosis in patients with elevated corneal nodules, especially when there is a history of ocular surface trauma or surgery.