ea0035p724 | Neuroendocrinology | ECE2014
Hoyos Emilia Gomez
, Gracia Teresa Ruiz
, Azorin David Garcia
, Hernandez Martin Cuesta
, Buigues Ana Ortola
, Hernandez Irene Crespo
, Orozco Francisco Martinez
, Pascual Alfonso Luis Calle
, Dolado Alberto Marco
, Vega Isabelle Runkle de la
Introduction: Fatal insomnia is a neurodegenerative spongiform prion disease. Presentation can be sporadic or hereditary (autonomal dominant). The latter, FFI, is caused by a mutation in the human prion protein gene on chromosome 20. Affected individuals present a disorderd sleep-wake cycle, dysautonomia and motor signs, with a predominance of lesions in the thalamus. SIADH has been described in two affected patients.Case Study: A 70-year-old woman was r...