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Objective: To describe and compare the information obstetricians and geneticists in five European countries report they would give following the prenatal diagnosis of Klinefelter syndrome. Methods: 388 obstetricians and 269 geneticists from Germany, the Netherlands, Portugal, Spain and the UK completed a brief questionnaire assessing two variables: the information they reported providing to parents following the prenatal diagnosis of Klinefelter syndrome (categorized as positive or negative); and their perceptions of the quality of life with the condition. Results: Geneticists were more likely than obstetricians to report providing more positive than negative information about Klinefelter syndrome than equal amounts of positive and negative information or more negative than positive information about the condition (excess positive information). Regardless of specialty, the information that health professionals reported providing was predicted by their perceptions of the quality of life with the condition, and the country from which they came. Those perceiving quality of life as greater were more likely to provide an excess positive information, as were health professionals from Germany and the UK. Conclusions: These results suggest that the information parents across Europe receive after the prenatal diagnosis of Klinefelter syndrome varies according to the specialty and country of the health professionals consulted, and their perceptions of quality of life with the condition. This variation seems to reflect personal, cultural and professional differences between health professionals.

A 70-year-old woman presented to the emergency department with symptoms of a lower respiratory infection. A chest x-ray showed enlargement of the mediastinal space. The patient was admitted with a respiratory tract infection and started on antibiotic treatment. A computed tomography (CT) scan of the thorax revealed a large diaphragmatic hernia with stomach, large intestine and caudal pancreas lodged in the thoracic cavity. After the antibiotic treatment, the patient became asymptomatic and surgery repair was declined.

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POEMS syndrome is a rare paraneoplastic condition associated with polyneuropathy, organomegaly, monoclonal gammopathy, endocrine and skin changes. We report a case of a man with Castleman disease and monoclonal gammopathy, with a history of chronic diarrhoea and asthenia. Gastrointestinal involvement in POEMS syndrome is not frequently referred to in the literature and its physiopathology is not fully understood. Diagnostic criteria were met during hospitalization but considering the patient’s overall health condition, therapeutic options were limited. Current treatment for POEMS syndrome depends on the management of the underlying plasma cell disorder. This report outlines the importance of a thorough review of systems and a physical examination to allow an attempted diagnosis and appropriate treatment.