Ugeskrift for laeger最新文献

In this case report, we present an 11-year-old girl who developed super-refractory status epilepticus (SRSE) after focal seizures. Initial investigations, including MRI, CSF analysis, and autoimmune panels, were normal. Despite extensive treatment with several anti-seizure medications, immunotherapy, attempt of treatment with ketogenic diet and anesthetic infusions targeting burst-suppression, no improvement occurred. Trio whole genome sequencing revealed compound heterozygous pathogenic variants in POLG, confirming mitochondrial disease. Due to poor prognosis and deterioration, treatment was withdrawn, and she died in ICU.

Language barriers between healthcare professionals and families are increasingly common in Denmark and pose a serious threat to the quality and safety of healthcare for children. This review examines how these barriers lead to poorer outcomes for children, including diagnostic uncertainty and increased risks of adverse events. Although the use of professional interpreters - an entitlement in Denmark - can mitigate these risks, interpreters remain consistently underused. Furthermore, the absence of certification or educational requirements for medical interpreters in Denmark may further hinder the effectiveness and reliability of interpretation services in paediatric healthcare.

Encorafenib, cetuximab, and binimetinib are targeted therapies developed for metastatic colorectal cancer with a BRAF V600E mutation. This case report describes a patient with metastatic duodenal cancer with a BRAF V600E mutation who achieved durable complete remission following this treatment. The case highlights the potential use of BRAF V600E targeted therapy in BRAF V600E-mutated duodenal cancer and the importance of molecular profiling in rare cancers. Further research is needed on the effect and safety of targeted therapy for small bowel adenocarcinoma.

The diagnostic evaluation of sarcomas is carried out in one of the two sarcoma centres in Denmark - Aarhus University Hospital and Copenhagen University Hospital. Sarcomas are classified into soft tissue sarcomas and bone sarcomas. Furthermore, they are divided into low-grade and high-grade sarcomas according to the histopathology. This review confirms that the primary treatment for all sarcomas is surgical excision; however, chemotherapy and radiation therapy may be applied depending on the type of sarcoma. All sarcoma patients receive a minimum of five years of follow-up after treatment.

Dizziness is a common condition that can significantly reduce quality of life and increase the risk of falls. This review examines frequent vestibular causes, including benign paroxysmal positional vertigo, vestibular migraine, Ménière's disease, and vestibular neuritis. Vestibular rehabilitation is evidence-based and enhances compensation, balance, gaze, and functional mobility in daily life through tailored exercises, that include adaptation, substitution, and habituation. Given the significant variation in implementation across Denmark, it is essential to prioritise efforts for improved quality, standardisation, and comprehensive training nationwide.

We present a case of sporadic Creutzfeldt-Jakob disease (sCJD) in a 73-year-old patient, in which initial suspicion arose from unusual magnetic resonance imaging (MRI) findings and was later confirmed by cerebrospinal fluid analysis. This case report highlights the role of MRI in the early diagnosis of sCJD, facilitating timely palliative care, and highlights the key clinical and imaging characteristics of this rare and fatal prion disease.

Synkinesis is a sequela of moderate to severe facial palsy, caused by aberrant nerve regeneration. It leads to involuntary co-movements, impaired facial expression, and thus reduced quality of life. Treatment includes facial therapy, EMG biofeedback, botulinum toxin (BTX-A), and, in selected cases, surgery. This case report presents a case from Rigshospitalet demonstrating symptom relief and improved facial symmetry after treatment with BTX-A injections and facial therapy. Synkinesis is a complex condition that requires a multidisciplinary approach. Early detection, prevention and appropriate referral are crucial.

This is an editorial erratum to the article DOI: 10.61409/V01250023.

This case report presents a woman with post-partum depression treated with cabergoline for lactation inhibition who developed psychotic symptoms. She was admitted with moderate depression following a suicide attempt, and started on cabergoline and sertraline, with initial improvement of the depressive symptoms. Six days after starting cabergoline, she developed severe psychotic symptoms. Symptoms rapidly improved with antipsychotics and ECT. Due to the long half-life of cabergoline, this case potentially highlights a rare but serious adverse effect of cabergoline.