Oxford Medical Case Reports最新文献

Melorheostosis is a rare benign bone dysplasia characterized by dysostosis and sclerosis. The classic "dripping candle wax" appearance on imaging is a typical finding for the diagnosis. The authors report the case of a patient presenting with a hard and painful mass on the dorsal side of the hand.

Disseminated histoplasmosis is rarely reported in patients living with cancers in Nigeria. We report a 40-year-old woman who presented with left neck swelling and abdominal pain of two weeks duration. Clinical examination and radiological findings showed pallor, epigastric tenderness, generalized lymphadenopathy and hepatosplenomegaly. An initial diagnosis of sepsis and micronutrient deficiency was made following findings of macrocytosis, hypersegmented neutrophils and toxic granulations on blood smear. Intervention with antibiotics did not improve symptoms rather her clinical presentation worsened with the onset of fever, dizziness, easy fatiguability and generalized weakness. Histology of lymph node biopsy reported a diffuse large B-cell lymphoma. A repeat examination of the blood smear revealed budding yeast cells morphologically similar to Histoplasma capsulatum. This case emphasizes the need for a high index of suspicion of histoplasmosis in this at-risk population and the usefulness of a blood smear in diagnosing histoplasmosis.

Acute aortic dissection type A during cardiac catheterization has been reported as a rare but fatal complication. We present a case of acute aortic dissection type A occurring during catheter manipulation in the ascending aorta during mapping of ventricular premature contraction via the retrograde approach. In the present case, transthoracic echocardiography showed no pericardial effusion and no flap of the aorta, but intracardiac echo clearly showed the flap. Enhanced computed tomography revealed the aortic dissection, which extended from the ascending aorta to the bilateral common iliac artery, and the false lumen was thrombosed completely. Emergent surgery was performed and the postoperative course was uneventful, and he was discharged with no complications. Aortic dissection is a rare complication of cardiac catheterization, and early detection could prevent a fatal outcome. It is important to detect the signs and symptoms as quickly as possible and perform various diagnostic examinations.

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.].