Search

Background: Neuromyelitis optica is an inflammatory syndrome of the central nervous system, associated with anti-aquaporin-4 IgG antibodies. It is associated with severe neurological symptoms and risk of permanent neurological disability. The diagnosis can be established on the basis of clinical core characteristics of neuromyelitis optica, together with serological testing for anti-aquaporin-4 IgG antibodies and magnetic resonance imaging of the central nervous system., Case Presentation: We describe the case of a young woman presenting with obstipation, persistent nausea, vomiting and hiccups. The initial diagnostic workup confirmed obstipation, but did not find any underlying gastrointestinal pathology that could explain her persistent symptoms. Her condition deteriorated, she was unable to eat or drink without inducing vomiting, and eventually she received parenteral nutrition. Further diagnostic workup included magnetic resonance imaging of the brain, which revealed a T2-hyperintense lesion in the medulla oblongata, more specifically in the area postrema. Neurological and neuroradiological assessment led to a tentative clinical diagnosis of neuromyelitis optica spectrum disorder with a well-described, but rare, presentation: the area postrema syndrome. The diagnosis was confirmed by serological testing for anti-aquaporin-4 IgG antibodies. She was successfully treated with methylprednisolone with complete remission of symptoms. Patients with neuromyelitis optica spectrum disorders frequently experience relapses of the disease if untreated, and she was therefore treated with rituximab to prevent future relapses., Interpretation: This case is a reminder that common gastrointestinal symptoms may be caused by diseases of the central nervous system.

Background: Dyspnoea and syncope are common causes of admission to hospitals. Pulmonary embolism is often a differential diagnosis, and by examining the clinical history the clinician searches for known predisposing factors. This case report highlights the importance of Klinefelter's syndrome as a predisposing factor for venous thromboembolism. The syndrome is caused by an extra X chromosome in men, among whom the prevalence is estimated to be 1:500-1:1000. Probably only 25 % of men with the syndrome are diagnosed., Case Presentation: A man in his forties was admitted to hospital due to dyspnoea and syncope. CT showed submassive pulmonary embolism. The course illustrates the challenges of pulmonary embolism and its association with Klinefelter's syndrome., Interpretation: Several studies have shown an increased incidence of venous thromboembolism in patients with Klinefelter's syndrome. Klinefelter's patients have a higher pre-test likelihood of venous thromboembolism than other patients, similar to patients with hereditary thrombophilia. Klinefelter's syndrome is a persistent risk factor for recurrent thromboembolism. Thus, Klinefelter's syndrome impacts both the diagnosis and treatment of thromboembolic disease.