title: Biot's breathing in a woman with fatal familial insomnia: is there a role for noninvasive ventilation?
abstract: We present the case of a 48-year-old woman suffering from fatal familial insomnia (FFI)--a rare prion disease--who developed Biot's breathing and secondary respiratory failure during the early stages of the illness. Once hypercapnia was detected a trial of nocturnal noninvasive ventilation (NIV) was offered with important improvement of arterial blood gases (ABG), and subjective good quality of sleep. To our knowledge, this is the first report in the medical literature of the use of NIV in the management approach of this devastating disease. Its impact on the prognosis and survival of these patients, however, is yet to be elucidated.
authors.affiliation: Pulmonary Service, Corporació Parc Taulí, Hospital de Sabadell, Universitat Autònoma de Barcelona, Sabadell (Barcelona), Spain. lcasas@tauli.cat
authors.forename: Luis Fernando
authors.initials: LF
authors.lastname: Casas-Méndez
authors.forename: Manel
authors.initials: M
authors.lastname: Lujan
authors.forename: Laura
authors.initials: L
authors.lastname: Vigil
authors.forename: Gemma
authors.initials: G
authors.lastname: Sansa
mesh_terms: D001344:Autopsy; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006935:Hypercapnia / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008875:Middle Aged; D017286:Polysomnography / Q000379:methods; D011659:Pulmonary Gas Exchange; D035583:Rare Diseases; D012121:Respiration, Artificial; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000150:complications* / Q000175:diagnosis; D012720:Severity of Illness Index