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Browsing by Author "Raposo, A"

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  • Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
    Publication . Sobreira, I; Sousa, C; Raposo, A; Soares, MR; Soudo, AP; Dias, AI
    Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.
    2012Journal article Open access Show more
  • You Can't Heyde Forever
    Publication . Pires, P; Costa, I; Raposo, A
    Heyde's syndrome describes an association between aortic stenosis and a predisposition to bleeding from intestinal angiodysplasia resulting from acquired von Willebrand disease. We present the case of an 82-year-old woman with recurrent intestinal bleeding, severe anaemia and secondary myocardial infarction. Investigation identified ileal angiectasia as the source of haemorrhage. As echocardiography revealed severe aortic stenosis the patient underwent surgical valve replacement. At her 3-month follow-up, the patient reported no new bleeding episodes and her functional status had improved. This case highlights Heyde's syndrome, an entity probably underdiagnosed despite the high prevalence of aortic stenosis and intestinal angiodysplasia in elderly patients. LEARNING POINTS: In a patient with bleeding intestinal angiectasia, Heyde's syndrome should be considered in the differential diagnosis.Although supportive therapy is crucial for clinical stabilization, aortic valve replacement is the therapeutic gold standard.Appropriate management of these patients requires a multidisciplinary approach.
    2018Journal article Open access Show more