BMJ Case Reports最新文献

Cancer during pregnancy is uncommon. Symptoms caused by new cancers in pregnancy can be difficult to recognise leading to a delay in diagnosis and treatment. Ovarian cancer during pregnancy poses a further diagnostic challenge due to the vague symptoms that it can present, along with difficulty in the interpretation of tumour markers. Presentation with acute abdominal pain, in the presence of an ovarian cyst, can be misdiagnosed as benign conditions such as ovarian torsion or haemorrhage.We present a case of a highly aggressive small-cell ovarian carcinoma diagnosed in the third trimester of pregnancy. Ultrasound and MRI scans provided some information on the complex nature of the ovarian cyst. She underwent laparotomy with salpingo-oophorectomy, which was followed by Caesarean birth 2 weeks later at 34+ weeks' gestation. There was a rapid progression of disease between the two surgeries. Despite starting chemotherapy soon after, she became unwell after two cycles due to disease progression and suspected sepsis. She was unable to continue further treatment. She spent her last few days at home with her family. The final histology with specific stains confirmed the diagnosis of ovarian small cell carcinoma hypercalcaemic type.

We present a case of a male in his early 50s assessed in the emergency department with a seemingly clear alcohol history but with classic symptoms of Wernicke's encephalopathy (WE): disorientation, gait ataxia and vertical nystagmus. He also had significant bilateral hearing loss and profound anterograde amnesia. Neuroimaging revealed hallmark signs of WE, including symmetrical T2/fluid-attenuated inversion recovery hyperintensity in the medial thalami. Here, we consider important differentials beyond WE, discuss the importance of revisiting the patient's history and explore the significance of his imaging findings. Although the patient's cognitive function and ocular symptoms improved on standard treatment, his condition progressed to Korsakoff's syndrome accompanied by residual anterograde amnesia and ongoing confabulation that required cognitive rehabilitation.

We present a male patient in his early 70s with a cyclical 20-year history of a nodular papule affecting the left forefoot. On examination, ginger red-coloured hairs were evident within the sinus tract, correlating with the patient's short-haired Hungarian Vizsla dogs. Histology confirmed the diagnosis of pilonidal sinus. The patient was referred to the orthopaedic department for surgical intervention. Interdigital pilonidal sinus is a rare phenomenon which has been described as an acquired occupational hazard; however, this case report will highlight the importance of clinical history-taking including pet ownership when assessing a patient for the first time in a clinical setting.

Polyuria-polydipsia syndrome is composed of arginine vasopressin deficiency, arginine vasopressin resistance and primary polydipsia and are characterised by severe polyuria with hypotonic urine. The water deprivation test is commonly used to indirectly assess the vasopressin response to water deprivation. We report a woman in her 20s who demonstrated severe polyuria (11-12 L/day) on submitting a 24-hour urine sample for analysis. She subsequently mentioned having had polyuria and polydipsia for 10 years after an Epstein-Barr virus infection. A water deprivation test with copeptin measurement confirmed arginine vasopressin deficiency. Treatment with desmopressin transformed her life. Further investigation revealed possible concurrent subclinical mixed connective tissue disease. We suspect Epstein-Barr virus infection to be the cause of the arginine vasopressin deficiency and possibly the trigger for the subclinical mixed connective tissue disease. This case also highlights the utility of copeptin measurements in differentiating the various polyuria-polydipsia syndromes.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and neuromyelitis optica spectrum disorders (NMOSD) are two rare autoimmune inflammatory demyelinating diseases involving the central nervous system, which are often seen with combined involvement of the optic nerve and spinal cord. MOGAD can be confused with multiple sclerosis or NMOSD, due to its clinical presentation that may be similar and its characteristic to progress with habitual attacks. Although the clinical course of the above-mentioned three diseases is similar, their diagnosis and management are different. We hereby report a case which presented with predominant features of NMOSD but was later diagnosed as MOGAD, with strongly positive results for serum anti-myelin oligodendrocyte glycoprotein IgG antibody.

An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made. Further history revealed a family history of cognitive issues and dystonia in his uncle at the age of mid-40s. The diagnosis of HD was confirmed via genetic testing of the blood, specifically looking for trinucleotide repeats. HD allele 1 had full penetrance with 44 cytosine-adenine-guanine (CAG) repeats and HD allele 2 had partial penetrance with 15 CAG repeats. A multidisciplinary team was critical in diagnosing and managing this patient's underlying HD.

The hindfoot is an uncommon site for malignant tumours. While limb salvage procedures are now more common for treating bone sarcoma, there is limited information available on hindfoot reconstruction alternatives because of its low incidence and its challenging outcomes. We present a case report of a man in his late 60s with synovial sarcoma affecting the right heel (calcaneus and soft tissue). A wide resection was performed, followed by reconstruction using a femoral head allograft while preserving the subtalar joint and Achilles tendon insertion. Despite the partial reabsorption of the allograft at 8.4 years after surgery, excellent oncological and functional results were achieved.There are very few reports of calcaneal reconstruction following total or partial calcanectomy. Reconstructive options include the use of bone allografts, vascularized autografts, free vascularized musculocutaneous flaps and custom-made prosthesis replacement. The reconstruction technique described here, which uses an osteoarthritic femoral head allograft, is a relatively easy and widely available alternative. It has the potential functional benefits of preserving the subtalar joint and Achilles insertion if performed after a partial calcanectomy with geometric osteotomies.

Bochdalek hernias (BHs), though rare, are the most common congenital diaphragmatic hernias. Their coexistence with an ectopic intrathoracic kidney (IK), found in 0.25% of cases, is even rarer. Most IKs function normally; however, other than reported cases of BH-related obstruction, incarceration and strangulation, kidney-specific complications such as infection, obstruction and stone formation can occur. We present a patient presenting with a BH-IK in the setting of a symptomatic, multiply recurrent incisional hernia. Although there is no consensus on the best BH-IK repair technique, we propose that complete reduction and laparoscopic primary repair with mesh reinforcement using an intraperitoneal onlay mesh-plus technique are safe and feasible.